A Acrodermatite Enteropática (AE) é uma doença metabólica rara e hereditária, o que significa que é um problema com o qual a pessoa já nasce. Ela causa uma falta grave de zinco no corpo e é caracterizada por inflamação da pele nas extremidades (como mãos, pés e ao redor da boca), queda de cabelo, diarreia e atraso no crescimento.
Introdução
O que você precisa saber de cara
A Acrodermatite Enteropática (AE) é uma doença metabólica rara e hereditária, o que significa que é um problema com o qual a pessoa já nasce. Ela causa uma falta grave de zinco no corpo e é caracterizada por inflamação da pele nas extremidades (como mãos, pés e ao redor da boca), queda de cabelo, diarreia e atraso no crescimento.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 23 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 52 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
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Selective transporter that mediates the uptake of Zn(2+) (PubMed:17202136, PubMed:22242765, PubMed:27321477, PubMed:28875161, PubMed:31164399, PubMed:31914589, PubMed:31979155, PubMed:33837739, PubMed:36473915). Plays an essential role for dietary zinc uptake from small intestine (By similarity). The Zn(2+) uniporter activity is regulated by zinc availability (PubMed:17202136, PubMed:32348750). Also exhibits polyspecific binding and transport of Cu(2+), Cd(2+) and possibly Ni(2+) but at higher c
Cell membraneRecycling endosome membraneApical cell membrane
Acrodermatitis enteropathica, zinc-deficiency type
A rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune-system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders.
Variantes genéticas (ClinVar)
197 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 241 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 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 — Acrodermatite enteropática
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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
Novel Sodium-Dependent Multivitamin Transporter Variant Mimicking Acrodermatitis Enteropathica.
This case report describes a 3-year-old boy with intensely pruritic progressive skin eruptions that were unresponsive to standard treatments.
Rash decisions: diagnosing zinc deficiency in unexplained dermatitis .
Zinc is an essential micronutrient for the body and plays a crucial role in skin integrity, yet zinc deficiency remains an under-recognised cause of dermatitis, particularly in patients with predisposing risk factors. A male in his mid-30s with alcohol-related liver disease and ulcerative colitis presented with a widespread rash. Initial treatment for contact dermatitis and possible herpes simplex virus infection with topical steroids, antivirals and emollients was unsuccessful. His condition worsened, requiring intensive care admission. Imaging revealed bilateral pneumonia, and a skin biopsy returned inconclusive results. Dermatology review raised suspicion for an acrodermatitis enteropathica (AE)-like presentation. Although AE is typically inherited, acquired zinc deficiency can mimic its features in high-risk individuals. Subsequent serum zinc testing revealed low levels, and supplementation was initiated, resulting in rapid clinical improvement, supporting the diagnosis. This case highlights the need to consider micronutrient deficiencies, including zinc, in patients with severe dermatitis and significant risk factors. .
Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock.
Acrodermatitis enteropathica (AE) is a rare autosomal recessive condition caused by mutations in the SLC39A4 gene, leading to a zinc absorption disorder. The hallmark features of AE are periorificial erosive dermatitis, hair loss, and diarrhea. In this case report, we describe an 8-year-old child with AE who presented with septic shock. In this case report, we described a case of AE in an 8-year-old boy who presented with severe erosive dermatitis and was referred to the emergency department with septic shock. The genetic tests reported a frameshift deletion on SLC39A4, which confirmed the diagnosis of AE. After treatment with a therapeutic zinc supplement (3 mg/kg/day), his skin lesions began to heal, his hair regrew, and he showed significant improvement in both weight and social engagement. Patients presenting with mucocutaneous erosive lesions, particularly in a periorificial pattern, should be considered for a diagnosis of AE. Timely intervention is crucial, as failure to treat the condition can serve as a potential source for sepsis and septic shock originating from cutaneous sources.
A Case of Porokeratosis Ptychotropica Treated with Cryotherapy.
Porokeratosis encompasses a group of dermatoses characterized by marked keratinization of epidermis with distinct histological identification of cornoid lamellae of invaginated epidermis (1). Porokeratosis ptychotropica is a rare variant of porokeratosis, presenting as one or more red or brown plaques in the intergluteal and genital areas (2). Affecting predominantly adult men, it remains as uncommon as it is unexplained, with sporadic appearance and unknown physiopathology (3). Diagnosis is based on histology and therapeutic approaches used include topical corticosteroids, systemic retinoids, imiquimod, 5-fluorouracil, laser therapy and cryotherapy (2,4). However, resistance to treatment and recurrences are very frequent, and treatment results are often poor (4). We report a case of porokeratosis ptychotropica successfully treated with cryotherapy. A 76-year-old female with no prior relevant history was referred due to a one-year-long history of cutaneous lesions in the intergluteal region which had not responded to topical or oral antifungal. On observation, she presented two annular erythematous lesions in the right perivulvar and intergluteal region, with 1 and 2 cm of diameter, respectively (Figures 1 a and b). The lesions presented elevated margins, coarse on palpation, with central superficial scaling, associated with moderate pruritus (Figure 2). No other relevant findings were apparent on examination. An incisional biopsy of the larger lesion was performed. Histological examination showed moderately acanthotic and slightly irregular epidermis which contained a narrow cornoid lamella with a small column of parakeratosis, sitting on an area of hypogranulosis with dyskeratotic keratinocytes (Figure 3). Based on these findings, a diagnosis of porokeratosis ptychotropica was established. Two cycles of cryotherapy were performed (20 seconds per lesion). On follow-up, total resolution of lesions was observed, with residual hypopigmentation without significant scarring being observed. Porokeratosis ptychotropica (also known as verrucous porokeratosis of the gluteal cleft) is a rare, idiopathic disorder first described in 1995 by Lucker et. al., characterized by appearance of porokeratosis lesions in the gluteal or genital regions5. These are typically reddish-brown verrucous papules and plaques, which coalesce, expand centrally and may develop peripheral satellite lesions or porokeratosis in other areas, and which are typically pruriginous (2,6). It has a marked male predominance, corresponding to >90% cases reported in clinical case series, and affects mainly adults (7). Case presentation is typically sporadic, but familial distribution suggesting an autosomal dominant transmission has been described in some cases (7). Lesions typically have a chronic course, persisting for years prior to a diagnosis is established. Clinical differential diagnosis includes psoriasis, which porokeratosis ptychotropica often emulates, acrodermatitis enteropathica, lichen planus verrucosus, and tuberculosis verrucosa cutis. Lesion biopsy is essential to establish a diagnosis, exclude other differentials and rule out malignant transformation, which can occur in up to 7.5% of porokeratotic lesions, most frequently as squamous cell carcinoma7,8. Histological examination reveals a digitate epidermis with parakeratosis columns over keratinocytes, as well as dyskeratotic keratinocytes and hypogranulosis. Multiple concentric cornoid lamellae combined with digitate epidermis is the hallmark of porokeratosis ptychotropica. Therapeutic options are controversial and include topical corticosteroids, topical tacrolimus, PUVA, systemic retinoids, imiquimod, 5-fluorouracil, CO2 or excimer laser therapy, and cryotherapy2,4. Results are generally poor, with frequent persistence of lesions, recurrence after an initially successful treatment is also common (6,7). We report an extremely rare case of porokeratosis ptychotropica affecting a female patient. This case is also unique due to the successful treatment of the lesions with cryotherapy; further case series using this treatment option may validate it as an acceptable standard treatment for small lesions of porokeratosis ptychotropica.
Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant.
Acrodermatitis enteropathica (AE) is a clinical disorder that manifests due to severe zinc deficiency, which can be either genetic or acquired. The acquired form has been reported in patients with poor dietary intake, alcoholism, chronic liver disease, malabsorption syndrome, sickle cell anemia, or chronic renal failure, which usually presents at a later stage in life and has similar clinical features to the inherited defect. On the other hand, the genetic form is an autosomal recessive disorder, characterized by periorificial dermatitis, alopecia, and diarrhea caused by a defect in the SLC39A4 gene located on human chromosome 8, band 8q24.3, which impairs zinc absorption in the small intestine. Zinc is necessary for the functioning of many regulatory genes and enzymes; its deficiency presents with diverse manifestations in childhood, most commonly. Genetic testing is usually not available in many places, so the diagnosis is made clinically, along with measurement of zinc levels in serum or hair, and replenishing with supplements as soon as possible. This case report also depicts a case of inherited acrodermatitis enteropathica in an infant, which was managed successfully with zinc supplementation.
Publicações recentes
A Case of Porokeratosis Ptychotropica Treated with Cryotherapy.
Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant.
Novel Sodium-Dependent Multivitamin Transporter Variant Mimicking Acrodermatitis Enteropathica.
Rash decisions: diagnosing zinc deficiency in unexplained dermatitis .
O08 The elemental clue: a case series of Acrodermatitis enteropathica in a tertiary centre.
📚 EuropePMC606 artigos no totalmostrando 169
A Case of Porokeratosis Ptychotropica Treated with Cryotherapy.
Acta dermatovenerologica Croatica : ADCWeeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant.
CureusNovel Sodium-Dependent Multivitamin Transporter Variant Mimicking Acrodermatitis Enteropathica.
JAMA dermatologyRash decisions: diagnosing zinc deficiency in unexplained dermatitis .
BMJ case reportsO08 The elemental clue: a case series of Acrodermatitis enteropathica in a tertiary centre.
The British journal of dermatologyHeterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi's Varicelliform Eruption.
The American journal of case reportsAtypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock.
BMC pediatricsClinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.
Frontiers in medicineLost in the scales: Alcohol-induced zinc deficiency.
JAAD case reportsA case of dual pathologies: Kaposi varicelliform eruption superimposed on acrodermatitis enteropathica.
Indian journal of dermatology, venereology and leprologyRecurrent Acrodermatitis Enteropathica in a Pediatric Patient: A Rare Case Report with Zinc Deficiency and Complications.
Case reports in dermatologyAcrodermatitis enteropathica in the pediatric population: a literature review of real-world studies.
Frontiers in nutritionExploring management of acrodermatitis.
Asia Pacific journal of clinical nutritionCutaneous Implications of Liver Cirrhosis: A Case of Acrodermatitis Enteropathica.
CureusTransient neonatal zinc deficiency in a 3-month-old infant: A case report.
SAGE open medical case reportsSevere intertrigo resembling acquired acrodermatitis enteropathica unmasking zinc deficiency in a patient on cabozantinib therapy.
JAAD case reportsA case of acquired acrodermatitis enteropathica in a 91-year-old man.
SAGE open medical case reportsAcrodermatitis Enteropathica in a Child in Bahrain: A Case Report and Literature Review.
CureusAcrodermatitis dysmetabolica: lessons from two pediatric cases.
Journal of pediatric endocrinology & metabolism : JPEMResearch progress on the molecular structure, function, and application in tumor therapy of zinc transporter ZIP4.
International journal of biological sciencesZinc Supplementation for Acrodermatitis Enteropathica Overlapped with Psoriasiform Lesions.
Psoriasis (Auckland, N.Z.)Acrodermatitis Enteropathica: A Case Report Involving a Delayed Diagnosis.
CureusAcquired and Inherited Zinc Deficiency-Related Diseases in Children: A Case Series and a Narrative Review.
Pediatric reportsPresentation of a Rare Case of Skin Signs Consistent With Scurvy and Acrodermatitis Enteropathica in the Context of Enolism With Multiple Nutritional Deficiencies.
Actas dermo-sifiliograficasExtremely rare complication in high-risk newborn on long-term parenteral nutrition and large stool losses through ileostomy.
Bratislavske lekarske listyTransient neonatal zinc deficiency or acrodermatitis enteropathica?
Anais brasileiros de dermatologiaVariants of SLC39A4 cause acrodermatitis enteropathica in Tibetan, Yi, and Han families in Sichuan region of southwestern China: a case report series.
Frontiers in medicineAnalysis of similarities and differences between transient symptomatic zinc deficiency and acrodermatitis enteropathica in children: a case report of a Chinese Yi-ethnic infant.
BMC pediatricsAn Alcohol-Associated Rash.
GastroenterologyRole of zinc in health and disease.
Clinical and experimental medicineAcrodermatitis dysmetabolica with concomitant acquired acrodermatitis enteropathica in a patient with maple syrup urine disease.
JAAD case reportsAcrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease.
Dermatology reportsMicronutrient deficiency with skin and systemic symptoms: a case report of acrodermatitis enteropathica.
Postepy dermatologii i alergologiiAcrodermatitis Enteropathica.
JAMA dermatologyA novel case of limbal stem cell deficiency in a patient with acrodermatitis enteropathica.
Oman journal of ophthalmologyAcrodermatitis enteropathica during parenteral nutrition: a pediatric case report.
Acta bio-medica : Atenei ParmensisZinc: an undervalued microelement in research and treatment.
Postepy dermatologii i alergologiiAcrodermatitis Enteropathica: A Rare Case With Lifelong Implications.
CureusAcquired Acrodermatitis Enteropathica in an Infant.
CutisA Rare Case Of Severe Acrodermatitis Enteropathica During Covid-19 Lockdown.
Journal of Ayub Medical College, Abbottabad : JAMCZinc and Zinc Transporters in Dermatology.
International journal of molecular sciencesCase report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation.
Frontiers in pediatricsThe transmembrane domains mediate oligomerization of the human ZIP4 transporter in vivo.
Scientific reportsAcquired Acrodermatitis enteropathica - an unusual cause of vulva ulceration in a post-operative patient: a case report.
Age and ageingEnterokinase deficiency with novel TMPRSS15 gene mutation masquerading as acrodermatitis enteropathica.
Pediatric dermatologyAtypical Presentation of Cystic Fibrosis in An Infant.
Indian journal of dermatologyA case of acrodermatitis enteropathica mimicking mutilating palmoplantar keratoderma.
Indian journal of dermatology[Recurrent systemic sporadic rash for 10 years in a girl aged 11 years].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsErythematous scaly plaques with erosions in a 4-month-old.
JAAD case reports[Dermatologic manifestations of vitamin and mineral deficiency].
Dermatologie (Heidelberg, Germany)Impact of Zinc Transport Mechanisms on Embryonic and Brain Development.
NutrientsSecondary acrodermatitis enteropathica-like skin findings in a case of methylmalonic acidemia.
Pediatric dermatologyHeterologous Expression of Full-Length and Truncated Human ZIP4 Zinc Transporter in Saccharomyces cerevisiae.
BiomoleculesAcrodermatitis enteropathica-like eruption.
JAAD case reportsTransient Symptomatic Zinc Deficiency: An Overlooked Diagnosis in Acrodermatitis Enteropathica like Eruption in an Exclusively Breastfed Preterm Infant.
Oman medical journalOral adverse events due to zinc deficiency after pancreaticoduodenectomy requiring continuous intravenous zinc supplementation: a case report and literature review.
BMC oral healthCase of Olmsted Syndrome with Essential Thrombocytosis Misdiagnosed as Acrodermatitis Enteropathica.
Indian journal of dermatology[Diagnosis of a rare and severe inflammatory bowel disease in an infant with peri-orificial ulcerations].
Annales de pathologieZinc ionophores: chemistry and biological applications.
Journal of inorganic biochemistrySevere de novo pustular psoriasiform immune-related adverse event associated with nivolumab treatment for metastatic esophageal adenocarcinoma.
Journal of cutaneous pathologyAcrodermatitis Enteropathica-Like Dermatosis After Whipple Procedure.
PancreasNovel nonsense mutation in the SLC39A4 gene in a Japanese boy with mild acrodermatitis enteropathica.
The Journal of dermatologyA Missense Variant in SLC39A4 in a Litter of Turkish Van Cats with Acrodermatitis Enteropathica.
GenesAcquired Zinc Deficiency Mimicking Acrodermatitis Enteropathica in a Breast-Fed Premature Infant.
Pediatric reportsTrichoscopy in acrodermatitis enteropathica.
International journal of dermatologyAcrodermatitis enteropathica with ocular manifestations.
BMJ case reportsTherapeutic Use of Trace Elements in Dermatology.
Alternative therapies in health and medicineA Case of Annular Epidermolytic Ichthyosis Resulting from a de Novo Mutation, p.I479T, in Keratin 1 Gene.
Indian journal of dermatologyAcquired Acrodermatitis Enteropathica in a 28-Year-Old Male with Type 1 Diabetes.
Case reports in dermatological medicineAcute onset of blisters in an infant with acrodermatitis enteropathica: A case report.
SAGE open medical case reportsZinc transporter mutations linked to acrodermatitis enteropathica disrupt function and cause mistrafficking.
The Journal of biological chemistryAcquired acrodermatitis enteropathica from a ketogenic diet.
JAAD case reportsAcrodermatitis enteropathica in a 3-month-old boy.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienneDermatological Manifestations in Inflammatory Bowel Diseases.
Journal of clinical medicineAcrodermatitis enteropathica-like eruption secondary to vitamin and amino acid deficiencies associated with pancreatic tumour.
Annales de dermatologie et de venereologieAcrodermatitis Enteropathica: A Case Report.
Oman medical journalAcquired Acrodermatitis Enteropathica.
The American journal of medicineTransient Symptomatic Zinc Deficiency Resembling Acrodermatitis Enteropathica in a Full-Term Breastfed Infant.
Indian journal of pediatricsDermatological Manifestations in Pediatric Inflammatory Bowel Disease.
Medicina (Kaunas, Lithuania)Transient Symptomatic Zinc Deficiency in a Breastfed Infant Associated with Low Zinc Levels in Maternal Serum and Breast Milk Improving after Zinc Supplementation: An Uncommon Phenotype?
Indian dermatology online journalAcrodermatitis Enteropathica as a Presentation of Cystic Fibrosis in an Infant.
Indian pediatricsAcrodermatitis enteropathica: a hereditary form of zinc deficiency.
QJM : monthly journal of the Association of PhysiciansAlopecia universalis-like hair loss in acrodermatitis enteropathica.
Clinical and experimental dermatologyNecrolytic Acral Erythema: Current Insights.
Clinical, cosmetic and investigational dermatologyA novel homozygous mutation p.E88K in maternal SLC30A2 gene as a cause of transient neonatal zinc deficiency.
Experimental dermatologyAnalysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature.
BMC pediatricsElucidating the H+ Coupled Zn2+ Transport Mechanism of ZIP4; Implications in Acrodermatitis Enteropathica.
International journal of molecular sciencesGenomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.
Human mutationAcrodermatitis Enteropathica Associated With Inflammatory Bowel Disease.
ACG case reports journal[Cutaneous manifestations of nutritional deficiencies].
Revue medicale suisseAssociation between micronutrient deficiency dermatoses and clinical outcomes in hospitalized patients.
Journal of the American Academy of DermatologyConcurrence of Acrodermatitis Enteropathica and Eczema Herpeticum in a Child with Atopic Dermatitis.
Case reports in dermatologyCombined zinc and vitamin B6 deficiency in a patient with diffuse red rash and angular cheilitis 6 years after Roux-en-Y gastric bypass.
BMJ case reportsImage Gallery: Acrodermatitis enteropathica: recurrent flares in adulthood.
The British journal of dermatologyAcrodermatitis enteropathica-like skin eruption with neonatal seizures in a child with biotinidase deficiency.
Clinical and experimental dermatologyOverlapping dermatologic diagnoses in severe Crohn's disease with duel genetic mutations.
International journal of dermatologyHypereosinophilic syndrome masquerading as acrodermatitis enteropathica.
Indian journal of dermatology, venereology and leprologyThe histidine-rich loop in the extracellular domain of ZIP4 binds zinc and plays a role in zinc transport.
The Biochemical journalAtomic Absorbance Spectroscopy to Measure Intracellular Zinc Pools in Mammalian Cells.
Journal of visualized experiments : JoVEAcquired acrodermatitis enteropathica due to zinc-depleted parenteral nutrition.
Pediatric dermatology50 Years Ago in The Journal of Pediatrics: Acrodermatitis Enteropathica: Defective Metabolism of Unsaturated Fatty Acids.
The Journal of pediatricsBiotin Is Required for the Zinc Homeostasis in the Skin.
NutrientsNovel nonsense mutation of the SLC39A4 gene in a family with atypical acrodermatitis enteropathica.
Clinical and experimental dermatologyQuantifying the Oligomeric State of hZIP4 on the Surface of Cells.
BiochemistryZinc and skin: an update.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGAcquired acrodermatitis enteropathica secondary to sleeve gastrectomy.
Indian journal of dermatology, venereology and leprologyAcrodermatitis enteropathica: the need for sustained high dose zinc supplementation.
Dermatology online journalZn-DTSM, A Zinc Ionophore with Therapeutic Potential for Acrodermatitis Enteropathica?
NutrientsAcquired zinc deficiency in a renal transplant recipient with gastrointestinal tuberculosis responding promptly to oral correction.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaWhole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East.
Dermatology research and practiceAcquired bullous acrodermatitis enteropathica as a histologic mimic of pemphigus foliaceus in a patient on parenteral nutrition.
Dermatology online journalAcrodermatitis enteropathica from zinc-deficient total parenteral nutrition.
CutisAcrodermatitis Enteropathica Presenting with Recurrent Diarrhea and Vomiting in an Infant Reluctant to Breastfeed, and a Peculiar Erythemato-Eczematous Eruption around the Oral and Anogenital Regions.
SkinmedAcrodermatitis dysmetabolica as a sign of methylmalonic aciduria decompensation.
Clinical case reportsNonspecific erythema and scaling of the palms in a 53-year-old woman.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGThe Role of the Slc39a Family of Zinc Transporters in Zinc Homeostasis in Skin.
NutrientsACRODERMATITIS ENTEROPATHICA: CLINICAL MANIFESTATIONS AND PEDIATRIC DIAGNOSIS.
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo[Acrodermatitis enteropathica].
Boletin medico del Hospital Infantil de MexicoDisorders of metal metabolism.
Translational science of rare diseasesAcrodermatitis acidaemica.
Clinical and experimental dermatologyAcrodermatitis enteropathica in a patient with short bowel syndrome.
CutisAcquired Acrodermatitis Enteropathica: A Case Study.
CureusSymmetrical inflammatory erosive plaques and blisters in an infant.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGDiagnosis of acrodermatitis enteropathica in resource limited settings.
BMJ case reportsCharacterization of zinc amino acid complexes for zinc delivery in vitro using Caco-2 cells and enterocytes from hiPSC.
Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicineNecrolytic Acral Erythema in Seronegative Hepatitis C.
Case reports in dermatology[Analysis of SLC39A4 gene mutation in a patient with acrodermatitis enteropathica].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsAdult autoimmune enteropathy presenting initially with acquired Acrodermatitis Enteropathica: a case report.
BMC dermatologyAcrodermatitis enteropathica in a pair of twins.
Journal of dermatological case reportsAdvances in pharmacotherapeutic management of common skin diseases in neonates and infants.
Expert opinion on pharmacotherapyAcquired Acrodermatitis Enteropathica Syndrome in a Kidney Transplant Receipt: A Case Report.
Transplantation proceedingsDepletion of Epidermal Langerhans Cells in the Skin Lesions of Pellagra Patients.
The American Journal of dermatopathologyPerianal Lesions in Children: An Updated Review.
American journal of clinical dermatologyErosions and blisters in a premature infant with exclusive breastfeeding.
Medicina clinicaFirst report of SLC39A4 mutation in acrodermatitis enteropathica family from the Middle East.
International journal of dermatologySustained Need for High-Dose Zinc Supplementation in Children With Acrodermatitis Enteropathica.
Clinical pediatricsAn Acrodermatitis Enteropathica-Associated Zn Transporter, ZIP4, Regulates Human Epidermal Homeostasis.
The Journal of investigative dermatologySecondary acrodermatitis enteropathica-like lesions in a child with newly diagnosed coeliac disease.
Paediatrics and international child healthIsoleucine Deficiency in a Neonate Treated for Maple Syrup Urine Disease Masquerading as Acrodermatitis Enteropathica.
Indian pediatrics[Improvement in zinc nutrition due to zinc transporter-targeting strategy].
Nihon rinsho. Japanese journal of clinical medicine[The functional role of zinc in skin diseases].
Nihon rinsho. Japanese journal of clinical medicineAcrodermatitis dysmetabolica in an infant with maple syrup urine disease.
Clinical and experimental dermatologyAcquired acrodermatitis enteropathica as a presenting sign of celiac disease.
JAAD case reportsPersistent Rash in a Patient Receiving Total Parenteral Nutrition.
JAMAAn eruption while on total parenteral nutrition.
CutisThe Functions of Metallothionein and ZIP and ZnT Transporters: An Overview and Perspective.
International journal of molecular sciencesAcrodermatitis enteropathica: A novel mutation of the SLC39A4 gene in a Turkish boy.
The Journal of dermatologyAcrodermatitis Dysmetabolica in a Child with Cystic Fibrosis.
Pediatric dermatologyAcquired acrodermatitis enteropathica after gastric bypass surgery responsive to IV supplementation.
Dermatology online journalPsoriasiform Rash in a Toddler.
The Journal of pediatricsSevere acquired acrodermatitis enteropathica caused by anorexia nervosa.
The Journal of dermatologyOverview of Inherited Zinc Deficiency in Infants and Children.
Journal of nutritional science and vitaminologyA role for dZIP89B in Drosophila dietary zinc uptake reveals additional complexity in the zinc absorption process.
The international journal of biochemistry & cell biologyPhrynoderma and acquired acrodermatitis enteropathica in breastfeeding women after bariatric surgery.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGImage of the Month. Celiac disease presenting with acquired acrodermatitis enteropathica.
The American journal of gastroenterologyClinical utility gene card for: acrodermatitis enteropathica - update 2015.
European journal of human genetics : EJHGSoybean extracts increase cell surface ZIP4 abundance and cellular zinc levels: a potential novel strategy to enhance zinc absorption by ZIP4 targeting.
The Biochemical journalIdentification of a Novel Mutation in the SLC39A4 Gene in a Case of Acrodermatitis Enteropathica.
Acta dermato-venereologicaAcrodermatitis enteropathica in an adult.
Australian family physician[Cutaneous manifestations of cystic fibrosis in an infant: acrodermatitis enteropathica and gray hair].
Revista chilena de pediatriaAcrodermatitis enteropathica and other nutritional diseases of the folds (intertriginous areas).
Clinics in dermatologyVimentin filament organization and stress sensing depend on its single cysteine residue and zinc binding.
Nature communicationsBullous acrodermatitis enteropathica: case report of a unique clinical presentation and review of the literature.
Dermatology online journalOlmsted syndrome: clinical, molecular and therapeutic aspects.
Orphanet journal of rare diseasesAcrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation in a Patient with Normal Zinc Levels.
Pediatric dermatology[Hereditary zinc deficiency].
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekkeAcrodermatitis Dysmetabolica--Report of Two Cases.
Indian journal of pediatricsViva questions from the IJDVL.
Indian journal of dermatology, venereology and leprologyAcrodermatitis enteropathica in an infant with normal zinc levels.
Indian journal of dermatology, venereology and leprologyAssociações
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Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Acrodermatite enteropática
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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.
- Novel Sodium-Dependent Multivitamin Transporter Variant Mimicking Acrodermatitis Enteropathica.
- Rash decisions: diagnosing zinc deficiency in unexplained dermatitis .
- Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock.
- A Case of Porokeratosis Ptychotropica Treated with Cryotherapy.
- Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant.
- O08 The elemental clue: a case series of Acrodermatitis enteropathica in a tertiary centre.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:37(Orphanet)
- OMIM OMIM:201100(OMIM)
- MONDO:0008713(MONDO)
- GARD:5723(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q937818(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
