71 citations
,
November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This review discusses the role of Edar signaling in hair follicle development and cycling, emphasizing its impact on cell fate, differentiation, and interactions with other pathways, but reports no new results.
January 2020 in “Journal of oral medicine and oral surgery” This report describes a rare case of recurrent hair growth in the floor of the mouth, suggesting heterotopia as the possible cause in an adult male.
10 citations
,
January 1987 in “PubMed” This study found that triiodothyronine and epidermal growth factor differentially affected craniofacial development in neonatal rats, with various impacts on hair growth direction, incisor eruption, and ear and eyelid development.
9 citations
,
October 1995 in “Clinical Dysmorphology” This study described a Scottish family with hidrotic ectodermal dysplasia featuring variable symptoms such as hypo/oligodontia, thin hair, and heat tolerance, and concluded they exhibited overlapping traits with Clouston syndrome.
25 citations
,
November 2020 in “Proceedings of the National Academy of Sciences” This study found that the HoxC gene cluster plays a critical role in the development of ectodermal organs, including hair and nails, with mammalian-specific enhancers increasing transcription levels during development.
July 2025 in “Journal of Investigative Dermatology” Secreted inhibitors of Wnt and IGF signaling control hair and tooth development, creating species-specific patterns.
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
,
July 2006 in “Journal of cutaneous pathology” This case report documents the first known instance of an ectopic sebaceous gland and duct within a hair follicle in a 21-year-old male with persistent acneiform eruption.
29 citations
,
December 2004 in “Developmental biology” In this study, forced expression of the transcription factor cDermo-1 in chicken dermis led to the formation of ectopic feather buds and enhanced feather growth, demonstrating its role in initiating skin appendage development.
19 citations
,
January 2015 in “Development” This study found that misexpression of Hoxc8 in mice led to ectopic mammary development and suggests Hox genes may play crucial roles in the regional specification and initiation of cutaneous accessory organs.
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.
5 citations
,
August 2011 in “Journal of Dermatological Science” In this study, researchers found that dentin sialoprotein and phosphophoryn are present in rat and mouse hair follicles, suggesting these proteins may play a role in hair follicle development, similar to their role in dentin mineralization.
June 2021 in “Dermatology Online Journal” This case report documents the first known occurrence of alopecia areata in a patient with ectodermal dysplasia linked to a WNT10A mutation, suggesting potential shared genetic factors in hair loss pathways.
32 citations
,
May 1986 in “Archives of Dermatology” This case study suggests that atrichia with papular lesions associated with common variable immunodeficiency may follow an autosomal-dominant inheritance pattern, differing from previous reports of autosomal recessive inheritance.
98 citations
,
June 2008 in “Human mutation” This study found that a genetic variant in the EDAR gene leads to typical East Asian hair characteristics by increasing signaling output, as shown in transgenic mice experiments.
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.
131 citations
,
March 2004 in “The American journal of pathology” This study found that modulating BMP activity in transgenic mice affects the development and characteristics of several ectodermal organs, such as skin, hair, and claws, highlighting a stage-dependent influence on organogenesis.
4 citations
,
January 2023 in “Journal of Clinical Investigation” This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.
February 2026 in “Pediatric Dermatology” 21 citations
,
April 2004 in “Australasian Journal of Dermatology” This report describes a rare case of hair and nail ectodermal dysplasia in a 3-year-old girl, where treatment with topical minoxidil resulted in minimal improvement after 12 months.
60 citations
,
March 2006 in “Journal of Medical Genetics” This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.
9 citations
,
April 1985 in “Archives of Dermatology” This case report describes a 7-year-old boy with Netherton's syndrome, highlighting the identification of the tricorrhexis invaginata hair defect using a photographically illustrated scalp biopsy, which had not been visually documented before.
128 citations
,
March 1989 in “Experimental Cell Research” Hoxc13 is important for hair and tongue development by controlling hair keratin genes.
February 2025 in “Animals” In this review, researchers examined the molecular diversity and expression patterns of major skin appendage proteins, like keratins and EDC proteins, in tetrapods, highlighting recent findings in reptiles and birds and identifying knowledge gaps for future research.
8 citations
,
October 2024 in “Developmental Cell” 18 citations
,
November 2007 in “Acta Veterinaria Hungarica” This article describes the structure of ovine interdigital sinuses using scanning electron microscopy, highlighting features such as dense secretory material, hair presence, and classical apocrine secretion characteristics.
8 citations
,
January 2022 in “Current topics in developmental biology/Current Topics in Developmental Biology” 11 citations
,
January 2010 in “Journal of oral and maxillofacial surgery” 7 citations
,
November 1997 in “Reproduction Fertility and Development” In this study, subcutaneous injections of murine epidermal growth factor in marsupial pouch young inhibited the formation of hair follicles and associated structures, altering normal follicle development.
4 citations
,
January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.