22 citations
,
June 2020 in “iScience” This study found that disrupting Sox21 in developing teeth leads to severe enamel hypoplasia, regional osteoporosis, and abnormal hair formation, with impaired dental epithelial differentiation and regulation of hair follicle cell fate.
20 citations
,
January 2009 in “International Journal of Dermatology” This case report describes a patient with Clouston's syndrome and alopecia who responded positively to topical treatment with minoxidil and tretinoin.
20 citations
,
January 1997 in “Dermatology” This case report describes a 16-year-old with ectrodactyly-ED-clefting syndrome, where scarring alopecia with follicular involvement appeared during puberty, possibly due to anatomic hair abnormalities.
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.
19 citations
,
November 2012 in “Cell Communication and Signaling” This study found that Fibroblast growth factor-9 (FGF-9) accelerates epithelial invagination in engineered ectodermal organs and suggests its potential role in organogenesis and regeneration research.
15 citations
,
October 1976 in “Biochemical Journal” This study found that Naked trait mice exhibit a decrease in certain low-molecular-weight proteins in their hair, which contain high levels of glycine and tyrosine, compared to normal mice.
14 citations
,
February 2014 in “Experimental Cell Research” This review examines the role of stem cells and their niches in continuously growing ectodermal organs like teeth, hair, and claws, providing insights from mouse models without presenting new research findings.
12 citations
,
March 2013 This report describes a case where a 4-year-old boy with congenital alopecia due to hypohidrotic ectodermal dysplasia experienced significant hair growth after using topical minoxidil.
11 citations
,
July 2010 in “European Journal of Dermatology” In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.
10 citations
,
April 2022 in “Critical reviews in food science and nutrition” This review examines the potential role of odorant receptors in human skin cells responding to flavor compounds and their implications for skin health and disease, without providing new clinical results.
9 citations
,
March 2015 in “International reviews of immunology” This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.
9 citations
,
March 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports that the maintenance and morphogenesis of skin appendages rely on both the dose and duration of ectodysplasin signaling.
7 citations
,
June 2017 in “Gene” This study found that ectopic expression of FGF5s in transgenic Chinese Merino sheep increased wool length and greasy fleece weight compared to non-transgenic controls.
7 citations
,
January 2013 in “Hormone Research in Paediatrics” This case report describes an adult female with congenital adrenal hyperplasia who developed secondary amenorrhea and hair loss due to androgen overproduction from ovarian adrenal rests, detectable only after pelvic venous sampling, and normalizing after unilateral oophorectomy.
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.
6 citations
,
August 2022 in “International Journal of Molecular Sciences” This review summarizes the role of Ectodysplasin A signaling in skin appendage development and various diseases, noting potential clinical applications but reporting no new research findings.
6 citations
,
April 2012 in “Journal of Oral Pathology and Medicine” This study suggests that Rushton’s hyaline bodies form through both epithelial changes leading to hair keratin production and hemorrhage supplying erythrocytic substances, resolving previous debates about their origin.
6 citations
,
May 2000 in “Pediatric Dermatology” This article discusses a case study supporting the reclassification of KID syndrome as an ectodermal dysplasia, introducing a potential treatment combination that may alleviate symptoms in affected patients.
6 citations
,
January 1997 in “Pediatric dermatology” This case report highlights a 21-year-old man with severe nodulocystic acne resistant to conventional treatments, who showed moderate improvement with isotretinoin, and discusses its potential link to congenital digital abnormalities and Apert syndrome.
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.
5 citations
,
July 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This case study reports an unusual occurrence of hair growth on the glans penis of a healthy 24-year-old man, which required surgical excision but recurred at a different site.
5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.
4 citations
,
November 2020 in “Acta Dermato Venereologica” In this study, patients with specific skin and scalp conditions, including eczematous lesions, showed significant improvement after two weeks of oral tofacitinib treatment, as evidenced by changes in the trunk lesions.
4 citations
,
July 2020 in “Biochemical and Biophysical Research Communications” This study suggests that EDA-A2 induces apoptosis in hair follicles by increasing DKK-1 expression, implicating EDA2R signaling as a potential therapeutic target for androgenetic alopecia.
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.
4 citations
,
August 2015 in “PloS one” This study found that whisker follicle stem cells transplanted to injured spinal cords in mice contributed to healing and unexpectedly grew hair at the injury site.
3 citations
,
November 2018 in “Curēus” This article reviews the occurrence of ectopic sebaceous glands in hair follicle matrix during hair embryogenesis and reports no new clinical results, indicating unknown pathogenesis and clinical implications.
3 citations
,
January 2017 in “Gynecological endocrinology” This case report describes a 63-year-old woman with hyperandrogenism due to an ectopic adrenal gland adenoma on the ovaries, successfully treated with bilateral salpingo-oophorectomy.
3 citations
,
June 2004 in “Työväentutkimus Vuosikirja” This article reviews the roles of several signaling pathways and molecules, including FGFs, Hh, Notch, TGF, and Wnt, in the development of teeth and hair follicles, but reports no new findings.
2 citations
,
September 2021 in “Orphanet Journal of Rare Diseases” In this study, HED patients with COVID-19 showed a higher risk of postinfection fatigue and hair loss compared to controls, suggesting they are more susceptible to long-term consequences of SARS-CoV-2 infection.