74 citations
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October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
30 citations
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January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
15 citations
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May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
4 citations
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July 2022 in “Veterinary medicine international” This review discusses the nature, diagnosis, and control of mange in rabbits, focusing on its zoonotic implications and currently available treatment strategies, and reports no clinical results.
3 citations
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August 2021 in “Research Square (Research Square)” This study found that increased mRNA expression of the Ectodysplasin-A2-Receptor, observed across multiple species and tissues, may exacerbate inflammation during aging, suggesting potential benefits of blocking EDA2R/EDA-A2 signaling.
3 citations
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February 2016 in “Pediatric dermatology” This report describes two cases of Rapp–Hodgkin ectodermal dysplasia where refractory scalp erosions improved significantly with potent topical steroids; it also suggests a potential link between these scalp conditions and erosive pustular dermatosis of the scalp in elderly patients.
1 citations
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January 2017 in “Tohoku journal of experimental medicine” This study reports the first case of ovarian mature cystic teratoma linked to clinical virilization due to ectopic testosterone production, possibly from overexpression of the enzyme HSD17B5.
February 2026 in “Pediatric Dermatology” January 2026 in “Clinical and Experimental Dermatology” In this case report, complete hair regrowth was observed in a patient with autoimmune-related alopecia areata after treatment with a Janus kinase inhibitor, suggesting its potential effectiveness for both genetic and sporadic forms of the condition.
January 2026 in “Journal of Clinical and Investigative Dermatology” This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.
December 2025 in “American Journal of Case Reports” This case report highlights the importance of thorough examination in detecting ectopic thyroid glands in patients with borderline congenital hypothyroidism identified during newborn screening, as early intervention can prevent future complications and improve outcomes.
June 2025 in “Preprints.org” This review examines the complex role of the Ectodysplasin-A pathway in skeletal morphogenesis, emphasizing its interaction with other key signaling pathways, and reports no new experimental findings.
This report describes a patient with X-linked hypohidrotic ectodermal dysplasia who lacked the usual hair growth issues, highlighting the challenge of diagnosing this condition due to atypical presentations and underscoring the need for awareness to improve management and future planning.
April 2023 in “Veterinary world/Veterinary World” This study identified six species of ectoparasitic insects infesting domestic goats in Bulgaria, with Linognathus stenopsis being the most prevalent across the surveyed farms.
November 2022 in “Journal of the Endocrine Society” This case report describes a patient with ectopic Cushing's syndrome who experienced fatal complications from COVID-19, highlighting the challenges in managing such patients due to immune response alterations from endogenous hypercortisolemia.
April 2016 in “Journal of Investigative Dermatology” This study suggests that dsRNA may enhance KRT9 expression in palm and sole skin through β-catenin signaling, potentially linking mechanical damage to specific skin features and certain skin conditions.
April 2016 in “Journal of Investigative Dermatology” CD73 may regulate hair growth and could be targeted for hair growth treatments.
39 citations
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July 1997 in “American Journal of Medical Genetics” This study confirmed linkage of Clouston syndrome in a large Indian family to the 13q11-12.1 region, suggesting it shares a genetic basis with French Canadian cases.
21 citations
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April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
3 citations
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August 1988 in “PubMed” 2 citations
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October 1931 in “Archives of Dermatology and Syphilology” This report describes a rare case of scalp kerion due to microsporosis in a Portuguese child, noting the unusual combination with other microsporid features and treatment details.
1 citations
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September 2024 in “Media Kedokteran Hewan” In this case study, a 6-month-old dog diagnosed with anaplasmosis showed improved health and symptoms after a combination treatment with doxycycline, ivermectin, and supportive therapies.
1 citations
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
July 2026 in “Biomedical Papers” This study observed that moderate to severe atopic dermatitis patients showed a higher prevalence of keratoconus compared to the general population, with 6.7% having manifest KC and 20% subclinical KC, highlighting the need for increased awareness among dermatologists.
February 2025 in “Journal of Paediatrics and Child Health” In this case report, a late preterm male infant presented with a pathogenic TP63 gene variant, consistent with Rapp-Hodgkin Syndrome, showing symptoms such as ichthyosiform erythroderma, cleft palate, and ankyloblepharon, highlighting the complex management and diagnostic challenges in such cases.
January 2024 in “Biomedicines” This review discussed the cutaneous manifestations of APECED, highlighting chronic mucocutaneous candidiasis, alopecia areata, and vitiligo, while emphasizing the importance of early detection and monitoring for accurate diagnosis and patient care in various populations.
694 citations
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April 2000 in “Nature genetics” This study found that Msx2-deficient mice exhibit skull and bone formation defects similar to those seen in human MSX2-related conditions, highlighting the gene's importance in skeletal and organ development.
8 citations
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January 2022 in “Current topics in developmental biology/Current Topics in Developmental Biology”