Cutis laxa (CL) é uma doença do tecido conjuntivo que pode ser herdada ou adquirida. Ela é caracterizada por uma pele enrugada, frouxa, em excesso e sem elasticidade, que parece estar caída. Geralmente vem acompanhada de problemas nos ossos e no desenvolvimento e, em alguns casos, de problemas graves que afetam vários órgãos e sistemas do corpo. Várias formas diferentes de Cutis laxa hereditária já foram descritas, sendo classificadas de acordo com a forma como são herdadas, o quão afetados os órgãos internos estão, outros problemas que aparecem junto e a gravidade da doença.
Introdução
O que você precisa saber de cara
Cutis laxa (CL) é uma doença do tecido conjuntivo que pode ser herdada ou adquirida. Ela é caracterizada por uma pele enrugada, frouxa, em excesso e sem elasticidade, que parece estar caída. Geralmente vem acompanhada de problemas nos ossos e no desenvolvimento e, em alguns casos, de problemas graves que afetam vários órgãos e sistemas do corpo. Várias formas diferentes de Cutis laxa hereditária já foram descritas, sendo classificadas de acordo com a forma como são herdadas, o quão afetados os órgãos internos estão, outros problemas que aparecem junto e a gravidade da doença.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 200 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 541 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
15 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive.
CytoplasmGolgi apparatus
Geroderma osteodysplasticum
A rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation.
Facilitative glucose transporter required for the development of the cardiovascular system
Endomembrane systemCytoplasm, perinuclear region
Arterial tortuosity syndrome
An autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries.
Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). Stabilizes and organizes elastic fibers in the skin, lung and vasculature (By similarity). Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling (PubMed:10428823). May act as an adapter th
SecretedSecreted, extracellular space, extracellular matrix
Charcot-Marie-Tooth disease, demyelinating, type 1H
An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1H is characterized by peripheral sensorimotor neuropathy with onset usually in adulthood. Affected individuals present with foot deformities, upper or lower limb sensory disturbances, and motor deficits, mainly impaired gait. Rare patients may have hyperelastic skin or develop age-related macular degeneration.
Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GDP for free GTP
Cytoplasm
MACS syndrome
A complex disorder of elastic tissue characterized by sagging skin and occasionally by life-threatening visceral complications.
Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate to L-proline using NAD(P)H (PubMed:16730026, PubMed:19648921, PubMed:23024808, PubMed:28258219). At physiologic concentrations, has higher specific activity in the presence of NADH (PubMed:16730026, PubMed:23024808). Involved in the cellular response to oxidative stress (PubMed:16730026, PubMed:19648921)
Mitochondrion
Cutis laxa, autosomal recessive, 2B
A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Patients do not manifest metabolic abnormalities.
Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space (PubMed:2022183, PubMed:8617200, PubMed:8939931). Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta (PubMed:15184403, PubMed:8617200, PubMed:8939931). Outcompeted by LRRC32/GARP for
SecretedSecreted, extracellular space, extracellular matrix
Cutis laxa, autosomal recessive, 2E
A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. ARCL2E patients present with cutis laxa, inguinal hernia, craniofacial dysmorphology, variable heart defects, and prominent skeletal features including craniosynostosis, short stature, brachydactyly, and syndactyly.
Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine
MitochondrionMitochondrion matrix
Cutis laxa, autosomal recessive, 3A
A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities.
ATP-driven copper (Cu(+)) ion pump that plays an important role in intracellular copper ion homeostasis (PubMed:10419525, PubMed:11092760, PubMed:28389643). Within a catalytic cycle, acquires Cu(+) ion from donor protein on the cytoplasmic side of the membrane and delivers it to acceptor protein on the lumenal side. The transfer of Cu(+) ion across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing to
Golgi apparatus, trans-Golgi network membraneCell membraneMelanosome membraneEarly endosome membraneCell projection, axonCell projection, dendritePostsynaptic densityCytoplasm, cytosolEndoplasmic reticulum
Menkes disease
An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate.
Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta
Secreted, extracellular space, extracellular matrix
Urban-Rifkin-Davis syndrome
A syndrome characterized by disrupted pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial and dermal development. Clinical features include cutis laxa, mild cardiovascular lesions, respiratory distress with cystic and atelectatic changes in the lungs, and diverticulosis, tortuosity and stenosis at various levels of the intestinal tract. Craniofacial features include microretrognathia, flat midface, receding forehead and wide fontanelles.
Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity)
Secreted, extracellular space, extracellular matrix
Cutis laxa, autosomal dominant, 1
A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema.
Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth
Secreted, extracellular space, extracellular matrix
Doyne honeycomb retinal dystrophy
An autosomal dominant, progressive, ocular disorder characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. With age, drusen increase in size and number, and eventually cause visual symptoms, including decreased visual acuity, metamorphopsia, photophobia, and paracentral scotoma.
Catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:8463241). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (PubMed:32001091). In aerobic conditions, invol
CytoplasmCytoplasm, cytosolCytoplasmic vesicle, secretory vesicleCytoplasmic vesicle, clathrin-coated vesicle membraneLysosome
Cutis laxa, autosomal recessive, 2D
A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement.
Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:32001091, PubMed:33065002). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (PubMed:32001091)
Apical cell membraneCytoplasmic vesicle, secretory vesicle, synaptic vesicle membraneCytoplasmic vesicle, clathrin-coated vesicle membrane
Cutis laxa, autosomal recessive, 2C
A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2C patients exhibit severe hypotonia as well as cardiovascular involvement.
Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Essential component of the endosomal pH-s
Cell membraneEndosome membrane
Cutis laxa, autosomal recessive, 2A
A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases.
Plays a crucial role in elastic fiber formation in tissue, and in the formation of ultrastructural connections between elastic laminae and smooth muscle cells in the aorta, therefore participates in terminal differentiation and maturation of smooth muscle cell (SMC) and in the mechanical properties and wall integrity maintenance of the aorta (PubMed:27339457). In addition, is involved in the control of collagen fibril assembly in tissue throught proteolytic activation of LOX leading to cross- li
Secreted, extracellular space, extracellular matrixSecreted, extracellular space, extracellular matrix, basement membrane
Cutis laxa, autosomal recessive, 1B
A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. ARCL1B features include emphysema, lethal pulmonary artery occlusion, aortic aneurysm, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels.
Variantes genéticas (ClinVar)
320 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 3,482 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
20 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Cutis laxa
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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174 ensaios clínicos encontrados, 3 ativos.
Publicações mais relevantes
Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review.
Supravalvular aortic stenosis (SVAS) is a rare left ventricular outflow tract obstruction, most commonly caused by pathogenic variants in ELN. Truncating variants in exons 1-29 typically produce non-syndromic SVAS through elastin haploinsufficiency, whereas C-terminal variants are linked to autosomal dominant cutis laxa. However, clinically and mechanistically well-characterized variants in the distal part of this "stenotic zone," such as exon 28, remain uncommon. We conducted a retrospective family-based case report with standardized clinical evaluation, serial echocardiography, and trio whole-exome sequencing with Sanger confirmation and conservation analysis. A female infant presented at 1 month with severe sinotubular junction narrowing (Z-score -4.8, peak gradient 24 mmHg), severe peripheral pulmonary artery stenosis, a small atrial septal defect, and moderate mitral regurgitation. Her father had severe SVAS with mild PPAS and prior aortic root enlargement, without syndromic features. Trio sequencing identified a novel heterozygous ELN exon 28 frameshift variant, c.1879_1883dup (p.Ala629LeufsTer15), inherited from the father. Ala629 is fully conserved, and the duplication introduces a premature stop codon, consistent with nonsense-mediated decay and elastin haploinsufficiency. At 9 months, SVAS progressed (peak gradient 35 mmHg), while PPAS gradients regressed by >40%. This novel exon 28 ELN frameshift expands the non-syndromic SVAS spectrum and illustrates a characteristic pattern of progressive aortic stenosis with improving PPAS, supporting ELN testing and targeted longitudinal surveillance in similar patients and families.
Abnormal von Willebrand factor multimer pattern without VWF variants in autosomal-recessive cutis laxa type IIA.
Neurocutaneous disorders due to mitochondrial proline synthesis defects comprise PYCR1-related autosomal recessive cutis laxa (ARCL), ALDH18A1-related ARCL, and ALDH18A1-related autosomal dominant cutis laxa (ADCL). These disorders are characterized by thin, translucent skin with wrinkles (especially on the hands and feet); typical facial characteristics including a triangular face with a progeroid appearance, a broad forehead (prominent-appearing neurocranium due to small viscerocranium), convex nasal ridge, full or sagging cheeks, and pointed chin; moderate-to-severe intellectual disability or mild intellectual disability with additional neurodiverse phenotypes including autism spectrum disorder or attention-deficit/hyperactivity disorder; and pre- and postnatal growth deficiency. Additional features can include joint laxity, congenital hypotonia, progressive increased lower limb reflexes/spasticity, congenital hip dislocation, adducted thumbs, corneal clouding, and lens opacities. The diagnosis of a neurocutaneous disorder due a to mitochondrial proline synthesis defect can be established in a proband with characteristic clinical findings and identification of biallelic ALDH18A1 or PYCR1 pathogenic variants or a de novo ALDH18A1 pathogenic variant associated with ALDH18A1-related ADCL. Treatment of manifestations: Prelingual speech therapy to improve swallowing and speech development; routine treatment of epilepsy; in those with abnormal serum amino acids (low ornithine, citrulline, arginine), supplementation with arginine has been described in a limited number of individuals, but clinical benefit remains to be confirmed; physical therapy for motor delays and spastic diplegia; mobility devices for spastic diplegia; treatment of hip dislocation, scoliosis, and joint contractures per orthopedist; cervical spine fusion for atlantoaxial instability; palate enlargement as needed; correction of diffraction abnormalities and possible surgical correction in those with impaired vision due to clouding; management of hypertension; treatment of other cardiovascular manifestations per cardiologist. Surveillance: Neurologic exam initially every six months then annually; EEG as clinically indicated; brain MRI every ten years or more frequently in those with imaging abnormalities or new neurologic concerns; monitor developmental progress and educational needs every six months initially then annually; assess growth at each visit; assess for orthopedic manifestations every six months until age one year then annually; anterior chamber evaluation to assess for corneal clouding and cataract annually; echocardiogram every three years or more frequently in those with abnormal findings; brain MR angiogram every ten years or more frequently in those with abnormal findings; peak flow measurements or pulmonary function tests every three years beginning at age eight years. Agents/circumstances to avoid: Contact sports; prolonged fasting; activities requiring hyperbaric pressure; aesthetic surgical intervention; activities with high acceleration or that increase the risk for seizures; smoking; sunbathing. Neurocutaneous disorders due to mitochondrial proline synthesis defects are inherited in an autosomal recessive (PYCR1- and ALDH18A1-related ARCL) or an autosomal dominant (ALDH18A1-related ADCL) manner. Autosomal recessive inheritance: The parents of a child with PYCR1- or ALDH18A1-related ARCL are presumed to be heterozygous for a pathogenic variant. If both parents are known to be heterozygous for a pathogenic variant, each sib of an individual with PYCR1- or ALDH18A1-related ARCL has at conception a 25% chance of being affected, a 50% chance of being heterozygous, and a 25% chance of being unaffected and not a carrier. Heterozygous sibs of a proband with PYCR1-related ARCL are asymptomatic. To date, heterozygous carriers of pathogenic variants causative for ALDH18A1-related ARCL are reported to be asymptomatic. Carrier testing for at-risk relatives requires prior identification of the PYCR1 or ALDH18A1 pathogenic variants in the family. Autosomal dominant inheritance: All probands reported to date with ALDH18A1-related ADCL whose parents have undergone molecular genetic testing have the disorder as the result of a de novo ALDH18A1 pathogenic variant. If the ALDH18A1 pathogenic variant found in the proband cannot be detected in the leukocyte DNA of either parent, the recurrence risk to sibs is estimated to be 1% because of the possibility of parental gonadal mosaicism. Once the PYCR1 or ALDH18A1 pathogenic variant(s) have been identified in an affected family member, prenatal and preimplantation genetic testing are possible.
Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.
Spondyloepiphyseal dysplasia, Kondo-Fu (SEDKF) type is a rare skeletal dysplasia caused by biallelic variants in MBTPS1. To date, only seven SEDKF cases have been reported in the literature. Here, we report the eighth, a 20-year-old male presenting with severe disproportionate short stature, spondyloepiphyseal dysplasia, and the previously unreported feature of cutis laxa, which led to the clinical suspicion of geroderma osteodysplasica. Whole exome sequencing identified compound heterozygosity for a predicted splicing variant and a complete gene deletion in the patient. Functional validation using RNA splicing assays confirmed aberrant splicing, establishing the molecular diagnosis of SEDKF. This case broadens the clinical and molecular spectrum of MBTPS1-related disorders by presenting a novel combination of variants and phenotypic features.
ATP6V0A2-Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift Variant.
ATP6V0A2-related cutis laxa is a rare autosomal recessive disorder characterized by connective tissue abnormalities, developmental delay, and neurological features. While multiple sequence variants have been reported, exon-level deletions are rarely documented, and their clinical significance remains largely unknown. This study aims to present the clinical and molecular characteristics of a novel frameshift variant and recurrent exon 16 deletions in the ATP6V0A2 gene, to investigate a potential founder effect in southeastern Türkiye, and to contribute to the expanding genotype-phenotype correlation in ATP6V0A2-related cutis laxa. Ten cases from six unrelated families were evaluated. Exome sequencing, clinical exome sequencing, long-range polymerase chain reaction, gel electrophoresis, and haplotype analysis were performed. Variant interpretation followed ACMG and ClinGen guidelines. Clinical features were assessed through physical examination, developmental history, and neuroimaging. A novel homozygous frameshift variant (c.235del, p.Leu79Phefs*13) associated with severe neurological regression was identified in one case. Nine individuals carried a recurrent homozygous 380 bp deletion spanning exon 16 (c.1936-147_2055+113del). In our study, neurological regression-a feature rarely reported in the literature-was noted in two older patients. Haplotype analysis revealed shared homozygous regions in three cases, suggesting a founder effect. This cohort represents the largest reported series of ATP6V0A2-CL cases with exon 16 deletion to date. This study expands the genotypic and phenotypic spectrum of ATP6V0A2-CL and underscores the importance of copy number variation detection in next-generation sequencing-based diagnostics. The identification of a recurrent exon 16 deletion and shared haplotypes provides evidence for a founder effect in southeastern Türkiye and supports the implementation of population-specific screening for this variant.
Beyond the genome: a rare case report of cutis laxa.
Cutis laxa is a heterogeneous group of rare connective tissue pathologies characterized by dermal flaccidity and diminished cutaneous elasticity, often associated with phenotypic features of premature aging. The inherited variants of cutis laxa have various modes of genetic transmission and phenotypic heterogeneity and are categorized into three main categories based on inheritance patterns: autosomal dominant, autosomal recessive, and X-linked recessive forms. Autosomal recessive cutis laxa type 1B (ARCL1B) is associated with the gene EGF-containing fibulin-like extracellular matrix protein 2 (EFEMP2). We present a rare case report of cutis laxa in a male infant weighing 2 kg, who was delivered at 33 weeks' gestational age through an emergency grade 1 cesarean. The neonate was hypotonic with poor respiratory effort and cyanosed. He had dysmorphic features, small eyes, loose folds, and sagging, inelastic, and droopy skin. The abdomen was soft with a massive inguinal hernia, and the genitalia were not visible. Multiple limb deformities were also observed, including in utero fractures of the ribs and the long bones, a healed left femur fracture with callus formation, a healing fracture of the left 7th posterior rib, and right angular rib fractures. The neonate showed a small atrial septal defect with left-to-right shunting, severe right atrial enlargement and moderate left atrial enlargement, and severe tricuspid regurgitation. Mechanical ventilation, with escalated high-frequency oscillation and inhaled nitric oxide with a fraction of inspired oxygen of 100% oxygen, was performed, in addition to administering epinephrine, dobutamine, and hydrocortisone. Whole-exome sequencing detected ARCL1B. However, the neonate's status deteriorated, and he eventually succumbed at nine days of age. This case report and literature review highlights the occurrence of an extremely rare case, underscoring the significance of a multidisciplinary approach and prenatal detection to diagnose and manage such a rare case, aiming to contribute to the existing literature.
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Orphanet journal of rare diseasesCorrecting Lab Misinterpretations of Variants of Unknown Significance: A Case Study of EMILIN1 Variants in an Autosomal Recessive Disorder.
CureusOcular Manifestations in Congenital Cutis Laxa: A Case Series.
CorneaDe Novo Autosomal Dominant Cutis Laxa Type 3 With Global Developmental Delay and Musculoskeletal Features of Refractory Rickets.
Clinical case reportsCase Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene.
Frontiers in geneticsSuccessful Reduction of a Dislocated Hip Joint in a Patient With Cutis Laxa From a PYCR1 Mutation: Case Report.
JBJS case connectorGolgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.
Cellular and molecular life sciences : CMLSAcquired Cutis Laxa Type 2 (Marshall's Syndrome) Associated with Sweet's Syndrome: A Rare Entity.
Indian journal of dermatologyAcquired generalised cutis laxa with visceral involvement in a patient with rheumatoid arthritis and monoclonal gammopathy of uncertain significance.
Indian journal of dermatology, venereology and leprologyPhenotypic findings associated with variation in elastin.
HGG advancesCase Report: A male newborn with occipital horn syndrome.
F1000ResearchElucidating the roles of SOD3 correlated genes and reactive oxygen species in rare human diseases using a bioinformatic-ontology approach.
PloS oneThe first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up.
BMC pulmonary medicineConfirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2.
Molecular genetics and genomics : MGGEffect of decreased expression of latent TGF-β binding proteins 4 on the pathogenesis of emphysema as an age-related disease.
Archives of gerontology and geriatricsExtreme arterial tortuosity with ascending aortic aneurysm in a child with suspected Cutis Laxa syndrome.
Acta cardiologicaLong-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome.
Journal of medical geneticsAcquired cutis laxa: a clinical review.
International journal of dermatologyDiscovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing.
Prenatal diagnosisPenicillamine-Induced Localised Cutis Laxa in a Patient with Wilson Disease: A Case Report.
Mediterranean journal of rheumatologyA Growth-Restricted Neonate with Abnormal Facies and Lax Skin.
NeoReviewsA case of monoclonal gammopathy of cutaneous significance with multiple organs involvement: Comment on "Concurrent acquired cutis laxa and necrobiotic xanthogranuloma without paraproteinemia".
The Journal of dermatologyIdentification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.
Molecular biology reportsSevere atopic dermatitis with cutis laxa caused by a variant in the ELN gene.
JAAD case reportsThe Human Mutation K237_V238del in a Putative Lipid Binding Motif within the V-ATPase a2 Isoform Suggests a Molecular Mechanism Underlying Cutis Laxa.
International journal of molecular sciencesDynamic Reconstruction Using Bilateral Lengthening Temporalis Myoplasty for Facial Palsies in Patients with Hereditary Skin Laxity.
Plastic and reconstructive surgery. Global openA novel intronic variant of ATP6V0A2-related cutis laxa with impaired cognitive function.
Pediatrics and neonatologyType I acquired cutis laxa: Report of a unique progressive case and short review.
The American journal of the medical sciencesLenz-Majewski syndrome and recurrent otitis media: Are they related or not?
European journal of medical geneticsCorkscrew Mesenteric Arteries and Tortuous Descending Aorta in Autosomal Recessive Cutis Laxa.
Radiology. Cardiothoracic imagingDeep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.
European journal of medical genetics[Lipomatous hypertrophy of the interatrial septum].
MedicinaFree Dermal Fat Grafting: A Novel Technique for the Correction of Nasolabial Folds During Facelift Surgery.
Aesthetic surgery journalExpanding the phenotype and metabolic basis of ATP6AP2-congenital disorder of glycosylation in a Chinese patient with a novel variant c.185G>A (p.Gly62Glu).
Frontiers in geneticsComprehensive review of aortic aneurysms, dissections, and cardiovascular complications in connective tissue disorders.
MedicineGiant ascending aortic aneurysm with impending rupture as presentation of cutis laxa 1B: a case report.
European heart journal. Case reportsNovel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report.
BMC pediatricsA rare case of secondary cutaneous lymphoplasmacytic lymphoma clinically presenting as acquired cutis laxa.
Journal of cutaneous pathologyVisceral adiposity in patients with lipomatous hypertrophy of the interatrial septum.
Heart and vesselsComplete resolution of generalized annular elastolytic giant cell granuloma with doxycycline.
Anais brasileiros de dermatologia18F-FDG PET/CT helps rule out malignancy in lipomatous hypertrophy of the interatrial septum with atypical MRI manifestations, to avoid unnecessary surgical treatment.
The international journal of cardiovascular imagingAtlantoaxial instability associated with ALDH18A1 mutation.
American journal of medical genetics. Part AATP6V1A variants are associated with childhood epilepsy with favorable outcome.
SeizureA case of cutis verticis gyrata developing in a patient with primary scarring alopecia: A unique presentation of a rare disorder.
JAAD case reportsWells syndrome and acquired cutis laxa: An atypical association.
The Journal of dermatologyCharacterization of the Zebrafish Elastin a (elnasa12235) Mutant: A New Model of Elastinopathy Leading to Heart Valve Defects.
CellsProgressive Generalized Skin Laxity in a Young Woman.
JAMA dermatologyAcquired cutis laxa secondary to acute generalized exanthematous pustulosis: A case report and mini-review of literature.
The Journal of dermatologyTwo novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.
The journal of gene medicineNeonatal presentation of occipital horn syndrome caused by a ATP7A missense variant.
Journal of inherited metabolic diseaseConcurrent acquired cutis laxa and necrobiotic xanthogranuloma without paraproteinemia.
The Journal of dermatologySurgical Management of Hip Dislocation in a Patient with SCARF Syndrome: A Case Report with a 6-Year Follow-up.
JBJS case connectorCutis Laxa and the Value of Rhytidectomy: 4 Patients and Years of Follow-Up.
The Journal of craniofacial surgeryClinical features in adults with acquired cutis laxa: a retrospective review.
The British journal of dermatologyFBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature.
Molecular syndromologyDe Barsy Syndrome: A Case Report of a Rare Genetic Disorder.
CureusPapillary dermal elastolysis histopathology mimicking folliculotropic mycosis fungoides.
Journal of cutaneous pathologyNOVEL RETINAL FINDINGS IN A PATIENT WITH AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2A.
Retinal cases & brief reportsATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.
Journal of inherited metabolic diseaseSpontaneous coronary artery dissection in cutis laxa.
BJR case reportsSupravalvular aortic stenosis with bicuspid aortic valve in a patient with cutis laxa syndrome.
QJM : monthly journal of the Association of PhysiciansAutosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21-year-old female with an intronic mutation in the elastin gene.
American journal of medical genetics. Part AProgeroid syndrome of De Barsy - a case report and review of ophthalmic literature.
Ophthalmic geneticsA novel deletion mutation in the ATP6V0A2 gene in an Iranian patient affected by autosomal recessive cutis laxa.
Irish journal of medical scienceAutosomal recessive cutis laxa type Ib-Successful redo aortic root and arch replacement.
Clinical case reportsAcquired cutis laxa from heavy chain deposition disease.
Kidney internationalEMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
American journal of human geneticsAcquired Cutis Laxa in a Patient with Type I Diabetes and Renal Failure under Immunosuppressive Therapy for Transplantation.
Indian dermatology online journal[Analysis of clinical features and genetic variants in a child with autosomal recessive cutis laxa due to variants of ATP6V0A2 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsFunctional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.
Human molecular geneticsIdentification of a de novo mutation of the elastin gene by targeted exome sequencing in autosomal dominant cutis laxa.
Clinical and experimental dermatologyFirst report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.
American journal of medical genetics. Part ASuccessful surgical intervention for giant thoracic aortic aneurysm in cutis laxa aortopathy.
JTCVS techniques[Sweet syndrome of childhood with acquired cutis laxa (Marshall syndrome) as primary manifestation of Takayasu arteritis].
Dermatologie (Heidelberg, Germany)Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature.
European journal of medical geneticsAcquired Cutis Laxa on the Upper Eyelids and Earlobes: A Case Report and Literature Review.
Archives of plastic surgeryThe response to growth hormone treatment in a child with short stature, growth hormone deficiency and autosomal dominant cutis laxa type 3 - case report.
Journal of pediatric endocrinology & metabolism : JPEMLipomatous Hypertrophy of the Atrial Septum.
Deutsches Arzteblatt internationalAutosomal recessive cutis laxa type 1C with a homozygous LTBP4 splicing variant: a case report and update of literature.
Molecular biology reportsIdentification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease.
Frontiers in geneticsClinical commentary about foreign body complications over 20 years after polymethyl-methacrylate face implants and control of late sequelae with Polynucleotides Highly Purified Technology (PN-HPT® ).
Journal of cosmetic dermatologyCongenital Cutis Laxa: A Case Report and Literature Review.
Frontiers in surgeryFamilial Michelin tire baby syndrome.
The Journal of dermatologyClinical and electrophysiological findings of facial palsy in a case of hereditary gelsolin amyloidosis.
Auris, nasus, larynxAuthor Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.
Nature geneticsGiant Aortic Aneurysm in Child with Cutis Laxa Syndrome: Unusual Presentation, New Surgical Technique.
The heart surgery forumExpanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings.
Clinical dysmorphologyA novel hotspot of gelsolin instability triggers an alternative mechanism of amyloid aggregation.
Computational and structural biotechnology journalAcquired cutis laxa type II (Marshall syndrome) in a 3-month-old boy.
Pediatric dermatologyThe Role of Cardiovascular Surgery in the Management of a Patient Diagnosed With Congenital Cutis Laxa Syndrome Complicated by Multivalvular Heart Disease.
CureusCase Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management.
Frontiers in cardiovascular medicineMajor response to adalimumab in patient with Sweet syndrome associated to an acquired cutis laxa.
Journal of the European Academy of Dermatology and Venereology : JEADVBi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
American journal of human geneticsHemopericardium with cardiac tamponade as a rare presentation of a massive aortic aneurysm in a young child with autosomal recessive cutis laxa.
Echocardiography (Mount Kisco, N.Y.)Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.
Advances in experimental medicine and biologyBasic Components of Connective Tissues and Extracellular Matrix: Fibronectin, Fibrinogen, Laminin, Elastin, Fibrillins, Fibulins, Matrilins, Tenascins and Thrombospondins.
Advances in experimental medicine and biologyPseudoxanthoma Elasticum With Cutis Laxa-Like Features.
JAMA dermatologySevere cutis laxa caused by immunoglobulin M gammopathy.
British journal of haematologySevere ocular involvement in hereditary gelsolin amyloidosis.
Porto biomedical journalChronic urticaria may not be as innocent as we think: A rare case of acquired cutis laxa following chronic urticaria.
Journal of cosmetic dermatologyWoolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in HRAS: Consider parental mosaicism in prenatal counseling.
The Journal of dermatologyAutosomal Recessive Cutis Laxa 1C Mutations Disrupt the Structure and Interactions of Latent TGFβ Binding Protein-4.
Frontiers in geneticsB3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient.
European journal of medical geneticsGeneralized acquired cutis laxa and urticarial dermatosis associated with k-chain IgA micromolecular myeloma.
Dermatology reportsMenkes disease diagnosed by a novel ATP7A frameshift mutation in a patient with infantile spasms-a case report.
Translational pediatricsNeutrophil Extracellular Traps as a Possible Pathomechanism of Generalized Acquired Cutis Laxa Associated with IgA-lamda Monoclonal Gammopathy of Undetermined Significance.
Acta dermato-venereologicaTwo fetuses in one family of arterial tortuosity syndrome: prenatal ultrasound diagnosis.
BMC pregnancy and childbirthCutis laxa after Mariana dam disaster in Brazil.
European review for medical and pharmacological sciencesClinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses.
Molecular genetics and metabolismIdentification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.
Journal of human geneticsLoss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.
PLoS geneticsGenetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
The Journal of clinical endocrinology and metabolismLTBP4 in Health and Disease.
GenesNormal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!
Clinica chimica acta; international journal of clinical chemistryA novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish type.
Human mutationClinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis.
Yonsei medical journalCopper Toxicity Associated With an ATP7A-Related Complex Phenotype.
Pediatric neurologySevere congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.
Clinical geneticsLoss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations.
Genes[Living with cutis laxa].
La Revue du praticienGenetic analysis of Pycr1 and Pycr2 in mice.
GeneticsSPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report.
BMC neurologyBioenergetic analysis of aged-phenotype skin in a rare syndromic cutis laxa.
Journal of cosmetic dermatologyNew insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa.
Orphanet journal of rare diseasesClinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys.
International journal of molecular sciencesEhlers-Danlos Syndrome: Immunologic contrasts and connective tissue comparisons.
Journal of translational autoimmunityReview of clinical and molecular variability in autosomal recessive cutis laxa 2A.
American journal of medical genetics. Part AA Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies.
The application of clinical geneticsA proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case report.
La Clinica terapeuticaExpanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
Journal of inherited metabolic diseaseTwo novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature.
BMC medical genomicsExpanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa.
Molecular genetics & genomic medicineOverview of the Pulmonary Manifestations in Patients with Autosomal Recessive Cutis Laxa Type IC.
Pediatric allergy, immunology, and pulmonologyPulmonary Manifestations of Skin Disorders in Children.
Pediatric clinics of North AmericaAcquired cutis laxa associated with neutrophilic urticarial dermatosis.
International journal of dermatologyATP7A mutation with occipital horns and distal motor neuropathy: A continuum.
European journal of medical geneticsSuccessful treatment of acquired cutis laxa with urticarial eruption by diphenyl sulfone.
Clinical and experimental dermatologyCutis laxa: A comprehensive overview of clinical characteristics and pathophysiology.
Clinical geneticsSix-year follow-up of a survivor of cervical spine fracture and dislocation with oesophageal perforation following long scarf syndrome - a case report and literature review.
BMC musculoskeletal disordersDysregulated assembly of elastic fibers in fibulin-5 knockout mice results in a tendon-specific increase in elastic modulus.
Journal of the mechanical behavior of biomedical materialsGGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype.
The British journal of dermatologyThe fibrillin microfibril/elastic fibre network: A critical extracellular supramolecular scaffold to balance skin homoeostasis.
Experimental dermatologyInfliximab for the treatment of recalcitrant bullous Sweet syndrome in a 10-year-old girl.
Pediatric dermatologyPredominant Motor Delay as a Major Presenting Clinical Sign in Cutis Laxa- Report of a Case with Review of Literature.
Neurology IndiaTremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1.
Brain & developmentPathophysiology of premature aging characteristics in Mendelian progeroid disorders.
European journal of medical geneticsHomozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles.
Journal of human geneticsFractional Carbon Dioxide Laser Treatment for Textural Improvement and Symptomatic Relief of Acquired Cutis Laxa of the Neck.
Lasers in surgery and medicineMutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
American journal of human geneticsCutis laxa-like calcinosis cutis secondary to asfotase alfa in juvenile-onset hypophosphatasia.
Clinical and experimental dermatologyPostinflammatory cutis laxa in a child.
Archives of disease in childhoodSkin wrinkling of the upper arms: a case of mid-dermal elastolysis.
Dermatology online journalAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review.
- Abnormal von Willebrand factor multimer pattern without VWF variants in autosomal-recessive cutis laxa type IIA.
- Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.
- ATP6V0A2-Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift Variant.
- Beyond the genome: a rare case report of cutis laxa.
- Genes associated with genetic and rare lung diseases and the risk of lung cancer.
- PTDSS1-Related Lenz-Majewski Hyperostotic Dysplasia.
- Arteriopathies: Too big to be true.
- Monoclonal gammopathies of cutaneous significance: A nomenclature and pathophysiology-based classification.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:209(Orphanet)
- MONDO:0016175(MONDO)
- GARD:6227(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q2735907(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
