6 citations
,
August 1993 in “Archives of Dermatology” This article describes the first documented case of acquired uncombable hair syndrome in a 39-year-old woman, contributing to the understanding of this rare condition.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.
4 citations
,
August 2016 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This case report observed that after 6 months of treatment with topical cetirizine and oral vitamin D, hair density and quality improved in three girls with congenital hypotrichosis due to ectodermal dysplasia.
197 citations
,
June 2009 in “American journal of human genetics” This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.
85 citations
,
August 2015 in “Journal of Applied Genetics” This review discusses recent insights into the molecular mechanisms of hypohidrotic ectodermal dysplasia linked to TNFα-related signaling pathway mutations but reports no new experimental results.
30 citations
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
7 citations
,
December 2008 in “Expert Review of Dermatology” This article reviews hair and nail disorders in children, emphasizing their prevalence, congenital and acquired origins, and the diagnostic challenges compared to treatment, but reports no new clinical results.
5 citations
,
September 2015 in “BMC Medical Genetics” In this study, individuals with a c.1072C > T mutation in the EDAR gene showed more hair shaft deformations compared to non-mutation carriers, highlighting EDAR's role in hair follicle development.
1 citations
,
August 2023 in “arXiv (Cornell University)” This study reports that deep learning models, particularly CNN and FCN, achieved high accuracy in diagnosing scalp and skin disorders, suggesting potential for improved diagnostic systems with further advancements.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This review discusses potential causes of alopecia and hair overgrowth in pediatric patients, detailing diagnostic techniques and treatments, but presents no new research findings.
5 citations
,
February 2010 in “Expert Review of Dermatology” This article reviews the interconnectedness of the skin and nervous system and discusses various treatment options for psychophysiological skin disorders, reporting no new clinical results.
65 citations
,
March 2018 in “Journal of Dermatological Science” This review discusses the role of mechanical forces in skin homeostasis and disease development, including their impact on conditions like keloids, androgenetic alopecia, and acral melanoma, and reports no clinical results; the authors propose modifying these forces as a potential therapeutic strategy.
59 citations
,
June 2008 in “Journal of The American Academy of Dermatology” This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.
43 citations
,
December 2013 in “Seminars in Cell & Developmental Biology” This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.
38 citations
,
January 2014 in “International Journal of Endocrinology” This review highlights that children with adrenal disorders may experience neurological and psychiatric symptoms, with potential long-term cognitive and behavioral effects from excess glucocorticoids.
35 citations
,
April 2014 in “American Journal of Medical Genetics” The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.
18 citations
,
January 2020 in “Acta dermato-venereologica” This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
11 citations
,
July 2012 in “Current Opinion in Pediatrics” This review discusses dermatologic signs in childhood endocrine disorders and highlights their importance in early diagnosis and treatment, but it reports no new clinical findings.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
1 citations
,
October 2013 This chapter discusses stem cell activity in feather and hair follicles, emphasizing how stem cells maintain their population by cycling between quiescence and activation in specialized niches but reports no new results.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
February 2022 in “International journal of research in dermatology” This case series describes seven distinct hair shaft disorders, highlighting the importance of accurate diagnosis since these conditions are often treated incorrectly as alopecias without improvement.
September 2020 in “Journal of Health, Medicine and Nursing” This case report describes a 10-year-old twin boy with proximal hypospadias and undescended testis, highlighting the diagnostic and treatment evaluations for associated sex development disorders.
October 2018 in “Springer eBooks” The document concludes that various hair disorders have different treatments, including medication, surgery, and addressing underlying causes.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the HoxC gene cluster is crucial for the development of hair and nails in mice, with key regulation by two mammalian-specific enhancers.
2 citations
,
December 2004 in “Medicine” This review discusses various causes of hair loss, emphasizing the importance of a structured diagnostic approach, and reports no new clinical findings.
41 citations
,
November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
109 citations
,
October 2007 in “American Journal of Human Genetics” This study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.
68 citations
,
August 2012 in “Journal of the American Academy of Dermatology” This paper discusses the use of dermatoscopy as a fast, noninvasive technique for diagnosing hair shaft disorders and reports no new results; the authors highlight its advantages over traditional microscopy methods.
8 citations
,
March 2019 in “Open Biology” This review describes recent advances in regenerating functional 3D organs from stem cells, particularly ectodermal organs, but reports no new clinical findings and highlights future research directions for organ replacement therapy.