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
,
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.
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.
8 citations
,
January 2022 in “Current topics in developmental biology/Current Topics in Developmental Biology”
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
144 citations
,
May 1990 in “Journal of the American Academy of Dermatology”
26 citations
,
June 2018 in “The journal of immunology/The Journal of immunology” This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.
April 2018 in “Journal of Investigative Dermatology” This study found that the protein p63 requires morphogenetic signals to regulate gene expression effectively during skin cell differentiation, highlighting its complex role in therapeutic reprogramming for conditions like epidermolysis bullosa.
264 citations
,
October 1958 in “Archives of Dermatology” This report describes a 1949 case of a young girl with a rare congenital ectodermal defect causing unique hair fragility, which had not been previously documented in the literature.
92 citations
,
July 2001 in “The FASEB Journal” In this study, transgenic mice overexpressing the glucocorticoid receptor in certain epithelia showed skin development abnormalities resembling ectodermal dysplasia and exhibited reduced inflammatory responses.
80 citations
,
September 2007 in “Cell Cycle” This study found that nestin-expressing cells in the hair follicle bulge exhibit multipotent stem cell-like properties and can generate neural cells both in vitro and in vivo.
75 citations
,
January 2004 in “Molecular and Cellular Biology” In this study, EDA-A2 transgenic mice exhibited multifocal myodegeneration dependent on XEDAR, suggesting a potential role for XEDAR in skeletal muscle homeostasis.
49 citations
,
April 2007 in “Pediatric Dermatology” This study describes a family with uncombable hair syndrome, suggesting autosomal dominant inheritance, and reports that oral biotin improved hair appearance in two young patients.
45 citations
,
January 2010 in “Forensic science international” This review discusses fetal hair follicle development and its importance for determining in utero drug exposure through neonatal hair, but it reports no new clinical results.
36 citations
,
August 2018 in “Dermatologic Clinics” This article reviews various hair abnormalities observable through trichoscopy in conditions like monilethrix, trichorrhexis nodosa, and ectodermal dysplasias, with no new clinical findings reported.
33 citations
,
October 2013 in “PloS one” This study found that human sweat glands contain unique stem cells with significant multilineage differentiation potential and self-renewal abilities, suggesting promising clinical applications due to easy biopsy access.
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.
31 citations
,
July 2017 in “Stem cell investigation” This article discusses the use of platelet-rich plasma as a supportive treatment for hair loss, emphasizing its potential to enhance hair follicle health and patient satisfaction, but reports no new clinical results.
30 citations
,
June 2021 in “British Journal of Dermatology” This review discusses the association between WNT10A gene variants and various ectodermal disorders, highlighting their clinical relevance in dermatology and dentistry, but reports no new findings.
30 citations
,
June 2014 in “Seminars in Immunology” This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.
30 citations
,
May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft” This review proposes a classification system for childhood hair loss based on clinical appearance, age of onset, and associated symptoms, but reports no new clinical results.
26 citations
,
July 2019 in “Dermatology and Therapy” This article discusses genetic hair disorders in children, outlining diagnostic approaches and highlighting the significance of distinguishing isolated hair defects from those associated with syndromes, but it reports no new clinical results.
26 citations
,
September 1969 in “The American journal of medicine” This article reviews Cronkhite-Canada syndrome as a distinct condition from Peutz-Jeghers syndrome and familial polyposis, with cases showing gastrointestinal polyposis, skin, hair, nail abnormalities, and hypoproteinemia.
25 citations
,
January 2004 in “The International Journal of Developmental Biology” This review discusses the molecular mechanisms involved in hair and epidermal development, highlighting how studies on human inherited diseases and mouse models have deepened our understanding; it reports no new results.
23 citations
,
January 1964 in “Archives of Dermatology” This report describes a child with ulerythema ophryogenes marked by eyebrow hair absence and progressive skin atrophy, whose condition did not improve despite elevated vitamin A levels via injections.
19 citations
,
March 2018 in “Journal of Investigative Dermatology” This study indicates that transient Msx2 expression is critical for wound-induced hair follicle neogenesis, with distinct phases in the healing process essential for epidermal competence and hair regeneration.
19 citations
,
April 2015 in “Developmental Dynamics” This study reports that dynamic interactions between stem cells and their niche, influenced by macro-environmental factors, regulate regenerative behavior in integument pattern formation.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.
15 citations
,
February 2015 in “Cell & tissue research/Cell and tissue research” This review examines the role of P-cadherin in skin and hair biology, emphasizing its importance in human hair growth, cycling, and pigmentation, and reports no new research findings.