A tricotiodistrofia ou TTD é um grupo heterogêneo de distúrbios caracterizado por cabelos curtos e quebradiços com baixo teor de enxofre (devido a uma síntese anormal das queratinas contendo enxofre).
Introdução
O que você precisa saber de cara
A tricotiodistrofia ou TTD é um grupo heterogêneo de distúrbios caracterizado por cabelos curtos e quebradiços com baixo teor de enxofre (devido a uma síntese anormal das queratinas contendo enxofre).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 70 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 198 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
10 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive, X-linked recessive.
Catalyzes the ATP-dependent ligation of cysteine to tRNA(Cys)
Cytoplasm
Microcephaly, developmental delay, and brittle hair syndrome
An autosomal recessive disorder characterized by developmental delay, motor and cognitive disabilities, brittle hair and nails, failure to thrive, and short stature.
Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA (PubMed:11714285). Plays a role in the synthesis of ribosomal RNA in the nucleolus (PubMed:10791971)
Cytoplasm, cytosolNucleus, nucleolus
Interstitial lung and liver disease
An autosomal recessive, life-threatening disorder characterized by respiratory insufficiency and progressive liver disease with onset in infancy or early childhood. Clinical features include failure to thrive, hypotonia, intermittent lactic acidosis, aminoaciduria, hypothyroidism, interstitial lung disease, pulmonary alveolar proteinosis, anemia, and liver canalicular cholestasis, steatosis, and iron deposition.
Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase
Nucleus
Trichothiodystrophy 6, non-photosensitive
A form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD6 patients do not manifest cutaneous photosensitivity. Inheritance pattern has been reported to be autosomal recessive.
May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis
NucleusCytoplasmCytoplasm, cytoskeleton, microtubule organizing center, centrosome
Trichothiodystrophy 4, non-photosensitive
A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD4 patients do not manifest cutaneous photosensitivity.
Required for pre-mRNA splicing as component of the spliceosome (PubMed:29360106, PubMed:29361316). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). E3 ubiquitin-protein ligase that catalyzes the transfer of ubiquitin onto target proteins (PubMed:28978524, PubMed:29144457). Catalyzes polyubiquitination of SNRNP200/BRR2 with non-canonical 'Lys-63'-linked polyubiquitin chains (PubMed:29144457). Plays a role in DNA repair via its role in
NucleusNucleus speckle
Trichothiodystrophy 5, non-photosensitive
An X-linked form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD5 features include microcephaly, profound intellectual disability, sparse brittle hair, aged appearance, short stature, facial dysmorphism, seizures, an immunoglobulin deficiency, multiple endocrine abnormalities, cerebellar hypoplasia and partial absence of the corpus callosum, in the absence of cellular photosensitivity and ichthyosis.
ATP-dependent 3'-5' DNA helicase/translocase (PubMed:17466626, PubMed:27193682, PubMed:33902107, PubMed:8465201, PubMed:8663148). Binds dsDNA rather than ssDNA, unzipping it in a translocase rather than classical helicase activity (PubMed:27193682, PubMed:33902107). Component of the general transcription and DNA repair factor IIH (TFIIH) core complex (PubMed:10024882, PubMed:17466626, PubMed:8157004, PubMed:8465201). When complexed to CDK-activating kinase (CAK), involved in RNA transcription by
Nucleus
Xeroderma pigmentosum complementation group B
An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-B patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.
ATP-dependent 5'-3' DNA helicase (PubMed:31253769, PubMed:8413672, PubMed:9771713). Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, not absolutely essential for minimal transcription in vitro (PubMed:10024882, PubMed:17466626, PubMed:9771713). Required for transcription-coupled nucleotide excision repair (NER) of damaged DNA; recognizes damaged bases (PubMed:17466626, PubMed:23352696, PubMed:9771713). Sequestered in chromatin on UV-damaged DNA (PubMed:23352
NucleusCytoplasm, cytoskeleton, spindle
Xeroderma pigmentosum complementation group D
An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-D patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.
Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-ini
NucleusCytoplasm
Trichothiodystrophy 3, photosensitive
A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder.
Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr) (PubMed:25824639, PubMed:31374204). Also edits incorrectly charged tRNA(Thr) via its editing domain, at the post-transfer stage (By similarity)
Cytoplasm
Trichothiodystrophy 7, non-photosensitive
A form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD7 patients do not manifest cutaneous photosensitivity. They have cysteine- and threonine-deficient hair with alternating light and dark 'tiger-tail' banding pattern observed under polarization microscopy. Inheritance pattern is autosomal recessive.
Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala) (PubMed:27622773, PubMed:27911835, PubMed:28493438, PubMed:33909043). Also edits incorrectly charged tRNA(Ala) via its editing domain (PubMed:27622773, PubMed:27911835, PubMed:28493438, PubMed:29273753). In presence of high levels of lactate, also acts as a protein lactyltransferase that mediates lactylation of lysine res
CytoplasmNucleus
Charcot-Marie-Tooth disease, axonal, type 2N
An axonal 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). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Variantes genéticas (ClinVar)
190 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 238 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
35 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 — Tricotiodistrofia
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
2 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.
RNF113A-related disorders are rare X-linked conditions characterized by neurodevelopmental impairment, endocrine abnormalities, and gonadal dysgenesis. To date, this condition has been documented in only a few individuals. We report 46,XY twin siblings with a hemizygous pathogenic RNF113A variant [c.901C > T, p.(Gln301*)], presenting with a remarkably consistent phenotype that includes microcephaly, corpus callosum dysgenesis, intractable epilepsy, subclinical hypothyroidism, microphallus, and bilateral testicular regression syndrome (TRS). Whole-exome sequencing identified a maternally inherited variant consistent with X-linked recessive inheritance. Despite the absence of testicular tissue, both twins had evidence of prenatal androgen exposure. Thyroid dysfunction evolved during infancy. These cases expand the phenotypic spectrum associated with pathogenic RNF113A variant and provide evidence linking this gene to TRS. They further highlight the importance of whole-exome sequencing in evaluating complex 46,XY disorders of sex development with multisystem involvement. RNF113A should be considered in the genetic evaluation of 46,XY disorder of sex development and TRS, particularly when accompanied with multisystem involvement.
Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother.
Trichothiodystrophies (TTDs) are a group of disorders that have been characterized by sparse, brittle, and sulfur deficient hair that showed a "tiger-tail" banding pattern. Though the majority of TTDs are inherited in an autosomal recessive pattern, RNF113A related trichothiodystrophy is X-linked. RNF113A-related TTD has been associated with a non-photosensitive trichothiodystrophy, characterized by intellectual disability, microcephaly, growth restriction and failure, genital abnormalities, endocrine abnormalities, recurrent infections, and abnormal brain magnetic resonance imaging (MRI). To date, six individuals have been described with RNF113A-related TTD. Here we describe two brothers in their 30's with a novel hemizygous variant c.635G>A p.Gly212Asp in the RNF113A gene, which is not present in the tissues tested in their mother. Protein modeling suggests significant structural alteration. The brothers are the oldest known affected individuals and have features consistent with X-linked trichothiodystrophy including intellectual disability, microcephaly, growth failure, dysmorphic features, severe myopia and tiger-tail banding pattern. Absence of endocrinological abnormalities, recurrent infections, genital abnormalities, and abnormal MRI showed that these are not universal findings of RNF113A related trichothiodystrophy. Given that absence of the variant in the patients' mother, we presume the mother to have low level somatic mosaicism or germline mosaicism for the variant. This highlights the importance of genetic counseling for accurate recurrence risks and warranted reproductive testing for parents and female siblings of affected individuals with presumed de novo variants.
Second Case of Type 9 Non-Photosensitive Trichothiodystrophy Caused by Homozygous Variant in the MARS1 Gene.
Trichothiodystrophy exhibits a broad clinical spectrum, and cases with an uncommon phenotype can go unnoticed, complicating the diagnosis. We present the second case of type 9 non-photosensitive trichothiodystrophy caused by a homozygous variant in the MARS1 gene. It presented with atypical features, including long hair, normal hair density of eyebrows and eyelashes, and precocious puberty.
RNA Lariat-Debranching Enzyme (DBR1) Variations in Sabinas Brittle Hair Syndrome Form of Trichothiodystrophy: A Trichothiodystrophy-Causing Gene.
Trichothiodystrophy (TTD), a rare, autosomal recessive, multisystem developmental disorder, is characterized by short, brittle hair with "tiger-tailed banding" on polarized microscopy. TTD is caused by variations in 10 genes: 3 nucleotide excision repair/basal transcription factor IIH genes, 4 amino acid charging transfer RNA genes, basal transcription factor IIE, RNF113A, and an RNA-splicing gene (MPLKIP/TTDN1). We performed whole-exome sequencing to identify a candidate gene in Sabinas brittle hair syndrome, a mild form of TTD. We report 5 nonphotosensitive adult patients from 3 unrelated families with a homozygous missense variation in DBR1 (p.D262Y) encoding the RNA lariat-debranching enzyme DBR1, which is involved in the removal of introns from pre-mRNA in the nucleus. Post-UV DNA cell survival was normal, indicating that DBR1 was not involved in nucleotide excision repair/transcription factor IIH. There were reduced levels of DBR1 mRNA and protein. Interacting TTDN1 protein in cells from patients with DBR1 variations was markedly reduced. Genetic analysis suggests an ancient origin of this variation. Thus, Sabinas syndrome is caused by DBR1 variations, further indicating that TTD is a disorder of RNA metabolism (RNAopathy).
Trichothiodystrophy.
Publicações recentes
Dupilumab for Trichothiodystrophy-Case Report and Review of the Literature.
The role of transcription-coupled nucleotide excision repair (TC-NER) during mammalian forebrain development.
Integrating Structural, Biochemical, and Cellular Perspectives on the TFIIH Helicases XPB and XPD.
Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.
Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother.
📚 EuropePMC248 artigos no totalmostrando 164
Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.
JCEM case reportsNovel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother.
American journal of medical genetics. Part AExpanding the landscape of nucleotide excision repair disorders: from discovery to therapy.
The Journal of clinical investigationExploring the interaction between nucleotide excision repair pathways and Huntington disease: Implications for neurodegeneration and phenotypic overlap.
Parkinsonism & related disordersA Case of Isolated Trichothiodystrophy.
Indian dermatology online journalDBR1 and the RNAopathy Landscape of Trichothiodystrophy.
The Journal of investigative dermatologyTFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.
The Journal of clinical investigationAnti-tumorigenic properties by trichothiodystrophy mutations in melanocytic cells.
NAR cancerSecond Case of Type 9 Non-Photosensitive Trichothiodystrophy Caused by Homozygous Variant in the MARS1 Gene.
Pediatric dermatologyTrichothiodystrophy-causative pathogenic variants impair a cooperative action of TFIIH and DDX1 in R-loop processing.
Nucleic acids researchTrichothiodystrophy: Molecular insights and mechanisms of pathogenicity.
Mutation research. Reviews in mutation researchRNA Lariat-Debranching Enzyme (DBR1) Variations in Sabinas Brittle Hair Syndrome Form of Trichothiodystrophy: A Trichothiodystrophy-Causing Gene.
The Journal of investigative dermatologyAmy and Friends: improving the lives of individuals affected by DNA repair disorders.
FEBS lettersClinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome.
Frontiers in neuroscienceInsights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.
Calcified tissue internationalRetinal dystrophy as an unusual manifestation of trichothiodystrophy.
Retinal cases & brief reportsPolarized Transilluminating Dermoscopy in Diagnosis of Hair Shaft Disorders.
Pediatric dermatologyTrichothiodystrophy type 3 with a mutation in the GTF2H5 gene: A case report in Argentina.
Archivos argentinos de pediatriaTrichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy.
Molecular genetics & genomic medicineOcular features in trichothiodystrophy.
BMJ case reportsTrichothiodystrophy in two siblings and utility of polarised transilluminating dermoscopy in its diagnosis.
Indian journal of dermatology, venereology and leprologyCharacterization of TFIIE-regulated genes by transcriptome analysis.
Turkish journal of biology = Turk biyoloji dergisiTrichothiodystrophy Identified in a Child with an Odontogenic Infection.
Journal of dentistry for children (Chicago, Ill.)Transcription-coupled repair - mechanisms of action, regulation, and associated human disorders.
FEBS lettersTrichothiodystrophy, playing with optical microscope.
Anales de pediatriaAnemia in patients with cartilage hair hypoplasia: a narrative review and recommendations.
Laboratory medicineRNF113A as a poor prognostic factor promotes metastasis and invasion of cervical cancer through miR197/PRP19/P38MAPK signaling pathway.
Archives of biochemistry and biophysicsThe face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.
Molecular genetics & genomic medicineSequential post-translational modifications regulate damaged DNA-binding protein DDB2 function.
Journal of biochemistryImpaired B-cell function in ERCC2 deficiency.
Frontiers in immunologyEffect of RNF113A deficiency on oxidative stress-induced NRF2 pathway.
Animal cells and systemsDupilumab treatment of trichothiodystrophy in a child.
Pediatric dermatologyGeneration of site-specifically labelled fluorescent human XPA to investigate DNA binding dynamics during nucleotide excision repair.
Methods (San Diego, Calif.)Congenital Ichthyosis: Current Approaches to Prenatal Diagnoses.
Fetal and pediatric pathologyTufted hair at birth: A previously undescribed peculiar sign of trichothiodystrophy.
Journal of the European Academy of Dermatology and Venereology : JEADVTFIIH central activity in nucleotide excision repair to prevent disease.
DNA repairTrichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.
EMBO molecular medicineExpanding the phenotype of GTF2E2-associated trichothiodystrophy.
Journal of the European Academy of Dermatology and Venereology : JEADVThe Multifaceted Syndromic Primary Immunodeficiencies in Children.
Journal of clinical medicineThe role of Transcription Factor IIH complex in nucleotide excision repair.
Environmental and molecular mutagenesisRibosomal Dysfunction Is a Common Pathomechanism in Different Forms of Trichothiodystrophy.
CellsActivation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain.
The Journal of biological chemistryA functional link between lariat debranching enzyme and the intron-binding complex is defective in non-photosensitive trichothiodystrophy.
Molecular cellSevere trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.
Clinical geneticsNovel Association of Trichothiodystrophy with Autoimmune Thyroiditis and Autoimmune Hemolytic Anemia: A Case Report.
Indian dermatology online journalRNF113A targeted by miR-197 promotes proliferation and inhibits autophagy via CXCR4/CXCL12/AKT/ERK/Beclin1 axis in cervical cancer.
Experimental cell researchThe nucleotide excision repair proteins through the lens of molecular dynamics simulations.
DNA repairA Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3.
Molecular syndromologyAge or lifestyle-induced accumulation of genotoxicity is associated with a length-dependent decrease in gene expression.
iScienceMechanical anisotropy of hair affected by genetic diseases highlights structural information related to differential crosslinking in keratins.
European biophysics journal : EBJEvaluation of immunological abnormalities in patients with rare syndromes.
Central-European journal of immunologyFacial clues to the photosensitive trichothiodystrophy phenotype in childhood.
Journal of human geneticsThe Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Pediatric neurologyAnalysis of the Oral Microbiome in a Patient with Cardiofaciocutaneous Syndrome and Severe Periodontal Disease: Impact of Systemic Antibiotic Therapy.
Antibiotics (Basel, Switzerland)Case for diagnosis. Hair analysis in a child with delayed psychomotor development and fragile and brittle hair: Trichothiodystrophy.
Anais brasileiros de dermatologiaSolving the Riddle of Developmental Delay with Hair Microscopy: Trichothiodystrophy (MPLKIP Mutation in an Indian Child).
Neurology IndiaTFIIH mutations can impact on translational fidelity of the ribosome.
Human molecular geneticsTFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.
Human mutationPeripheral neuropathies associated with DNA repair disorders.
Muscle & nerveDebilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.
American journal of medical genetics. Part ACase report: Identification of a novel heterozygous germline ERCC2 mutation in a patient with dermatofibrosarcoma protuberans.
Frontiers in oncologyA Young Boy with Brittle Hair.
Case reports in dermatologyEstablishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 gene.
Stem cell researchAdult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.
Movement disorders : official journal of the Movement Disorder SocietyTrichothiodystrophy hair shafts display distinct ultrastructural features.
Experimental dermatologyThe Neurodevelopmental Disorders Associated Gene Rnf113a Regulates Survival and Differentiation Properties of Neural Stem Cells.
Stem cells (Dayton, Ohio)C. elegans TFIIH subunit GTF-2H5/TTDA is a non-essential transcription factor indispensable for DNA repair.
Communications biologyMetronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy Overlap.
PediatricsNucleolar TFIIE plays a role in ribosomal biogenesis and performance.
Nucleic acids researchEvery protagonist has a sidekick: Structural aspects of human xeroderma pigmentosum-binding proteins in nucleotide excision repair.
Protein science : a publication of the Protein SocietyA rare ocular manifestation of trichothiodystrophy: Focal retinal dystrophy.
Journal francais d'ophtalmologieReduced levels of prostaglandin I2 synthase: a distinctive feature of the cancer-free trichothiodystrophy.
Proceedings of the National Academy of Sciences of the United States of AmericaSuccessful treatment of trichothiodystrophy with dupilumab.
Clinical and experimental dermatologyProtein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Human molecular geneticsExpansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.
Clinical geneticsA novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4.
American journal of medical genetics. Part ANovel ERCC2 variant in trichothiodystrophy infant: the first case report in China.
BMC pediatricsMutation in the ERCC2 gene identified in a Chinese trichothiodystrophy patient.
The Journal of dermatologyhiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers.
International journal of molecular sciencesHair follicle dystrophy in a litter of domestic cats resembling lanceolate hair mutant mice.
Veterinary dermatologyGlomerular hair sign: New trichoscopic finding in a patient with trichothiodystrophy.
Dermatologic therapyTrichothiodystrophy type 4 in an Indian family.
American journal of medical genetics. Part ATTDA inhibited apoptosis by regulating the p53-Bax/Bcl2 axis in glioma.
Experimental neurologyMalar rash in a young child with neurodevelopmental delay: a quiz.
Archives of disease in childhood. Education and practice editionThe X-linked trichothiodystrophy-causing gene RNF113A links the spliceosome to cell survival upon DNA damage.
Nature communicationsDysregulation of LXR responsive genes contribute to ichthyosis in trichothiodystrophy.
Journal of dermatological scienceHair abnormality in Netherton syndrome observed under polarized light microscopy.
Journal of the American Academy of DermatologyDrosophila as a Model Organism to Understand the Effects during Development of TFIIH-Related Human Diseases.
International journal of molecular sciencesAbnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia.
Journal of clinical immunologyA novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
American journal of medical genetics. Part AERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype.
Journal of the European Academy of Dermatology and Venereology : JEADVSecond report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
American journal of medical genetics. Part ATrichothiodystrophy and Chiari malformation type I in a child: more than a coincidence?
European journal of dermatology : EJDNucleotide excision repair genes shaping embryonic development.
Open biologySignaling Pathways, Chemical and Biological Modulators of Nucleotide Excision Repair: The Faithful Shield against UV Genotoxicity.
Oxidative medicine and cellular longevityBi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
American journal of human geneticsXPD/ERCC2 mutations interfere in cellular responses to oxidative stress.
MutagenesisGenetic Hair Disorders: A Review.
Dermatology and therapyIntersections between transcription-coupled repair and alkylation damage reversal.
DNA repairNovel ERCC2 mutation in two siblings with trichothiodystrophy.
Pediatric dermatologyNucleolar and Ribosomal Dysfunction-A Common Pathomechanism in Childhood Progerias?
CellsTranscription preinitiation complex structure and dynamics provide insight into genetic diseases.
Nature structural & molecular biologyTFIIE orchestrates the recruitment of the TFIIH kinase module at promoter before release during transcription.
Nature communicationsHeterogeneity and overlaps in nucleotide excision repair disorders.
Clinical geneticsTFIIH: A multi-subunit complex at the cross-roads of transcription and DNA repair.
Advances in protein chemistry and structural biologyAcquired trichorrhexis nodosa: how to diagnose it?
Dermatology online journalA homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom.
BMC medical geneticsPIBIDS syndrome in two Brazilian siblings.
BMJ case reportsA case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report.
European journal of medical geneticsMortality-associated immunological abnormalities in trichothiodystrophy: correlation of reduced levels of immunoglobulin and neutrophils with poor patient survival.
British journal of haematologyTrichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease.
Arquivos brasileiros de oftalmologiaTrichoscopy in Hair Shaft Disorders.
Dermatologic clinicsSmall molecule-based targeting of TTD-A dimerization to control TFIIH transcriptional activity represents a potential strategy for anticancer therapy.
The Journal of biological chemistrySolar UV damage to cellular DNA: from mechanisms to biological effects.
Photochemical & photobiological sciences : Official journal of the European Photochemistry Association and the European Society for PhotobiologyTrichothiodystrophy without Associated Neuroectodermal Features in Two Siblings.
International journal of trichologyThe First Reported Case of Trichothiodystrophy in Hungary: A Young Male Patient with Mutations in the ERCC2 Gene.
Acta dermatovenerologica Croatica : ADCDo you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs.
Anais brasileiros de dermatologiaHypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
PloS oneNovel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3.
European journal of medical geneticsActual state of knowledge in the field of diseases related with defective nucleotide excision repair.
Life sciencesStructural Basis for S100B Interaction with its Target Proteins.
Journal of molecular and genetic medicine : an international journal of biomedical researchA ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair.
NatureThe intricate network between the p34 and p44 subunits is central to the activity of the transcription/DNA repair factor TFIIH.
Nucleic acids researchTrichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.
Human molecular geneticsPolarized transilluminating dermoscopy: Bedside trichoscopic diagnosis of trichothiodystrophy.
Pediatric dermatologyHair Loss: Common Causes and Treatment.
American family physicianUpdated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.
Archives of dermatological researchThe cryo-electron microscopy structure of human transcription factor IIH.
NatureTrichothiodystrophy, complementation group A complicated with squamous cell carcinoma.
Journal of the European Academy of Dermatology and Venereology : JEADVTrichorrhexis nodosa due to repetitive trivial trauma.
Indian journal of dermatology, venereology and leprologyTargeted Apoptosis of Senescent Cells Restores Tissue Homeostasis in Response to Chemotoxicity and Aging.
CellXeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation.
Case reports in medicineRole of Cwc24 in the First Catalytic Step of Splicing and Fidelity of 5' Splice Site Selection.
Molecular and cellular biologyMutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.
Prenatal diagnosisAnalysis of Drosophila p8 and p52 mutants reveals distinct roles for the maintenance of TFIIH stability and male germ cell differentiation.
Open biologyBreaking the cycle of hair breakage: pearls for the management of acquired trichorrhexis nodosa.
The Journal of dermatological treatmentUnderstanding photodermatoses associated with defective DNA repair: Photosensitive syndromes without associated cancer predisposition.
Journal of the American Academy of Dermatology[Advance in research on causative genes of xeroderma pigmentosum and related diseases].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsBrittle Hair, Photosensitivity, Brain Hypomyelination and Immunodeficiency: Clues to Trichothiodystrophy.
Indian journal of pediatricsMechanisms of interstrand DNA crosslink repair and human disorders.
Genes and environment : the official journal of the Japanese Environmental Mutagen SocietyMale fertility and skin diseases.
Reviews in endocrine & metabolic disordersNucleotide Excision Repair and Transcriptional Regulation: TFIIH and Beyond.
Annual review of biochemistryGTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
American journal of human geneticsInherited ichthyosis: Syndromic forms.
The Journal of dermatologyIdentifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.
MedicineOcular manifestations of genetic skin disorders.
Clinics in dermatologyMitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.
BMC medical geneticsShort stature with congenital ichthyosis.
BMJ case reportsDevelopmental Delays, Fragile Hair, and Ichthyosis Since Infancy.
Pediatric dermatologyPhotosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene.
Photodermatology, photoimmunology & photomedicineA novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred.
European journal of medical geneticsCollodion Baby with TGM1 gene mutation.
International medical case reports journalArchitecture of the Human and Yeast General Transcription and DNA Repair Factor TFIIH.
Molecular cellGenome Instability in Development and Aging: Insights from Nucleotide Excision Repair in Humans, Mice, and Worms.
BiomoleculesTrichorrhexis nodosa: a distinctive presentation after tumour necrosis factor-α inhibitor therapy.
Clinical and experimental dermatologyDNA Repair Dysfunction and Neurodegeneration: Lessons From Rare Pediatric Disorders.
Journal of child neurologyDefective Hfp-dependent transcriptional repression of dMYC is fundamental to tissue overgrowth in Drosophila XPB models.
Nature communicationsTrichoscopic Hair Evaluation in Patients with Ectodermal Dysplasia.
The Journal of pediatricsConstructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS.
Journal of human geneticsXPB: An unconventional SF2 DNA helicase.
Progress in biophysics and molecular biologyTFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.
American journal of human geneticsA novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
Journal of medical geneticsPollitt syndrome patients carry mutation in TTDN1.
Meta geneTFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin.
Proceedings of the National Academy of Sciences of the United States of AmericaAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Tricotiodistrofia.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Tricotiodistrofia
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.
- Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother.
- Second Case of Type 9 Non-Photosensitive Trichothiodystrophy Caused by Homozygous Variant in the MARS1 Gene.
- RNA Lariat-Debranching Enzyme (DBR1) Variations in Sabinas Brittle Hair Syndrome Form of Trichothiodystrophy: A Trichothiodystrophy-Causing Gene.
- Trichothiodystrophy.
- Dupilumab for Trichothiodystrophy-Case Report and Review of the Literature.
- The role of transcription-coupled nucleotide excision repair (TC-NER) during mammalian forebrain development.
- Integrating Structural, Biochemical, and Cellular Perspectives on the TFIIH Helicases XPB and XPD.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:33364(Orphanet)
- MONDO:0018053(MONDO)
- GARD:12109(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3539030(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
