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
,
September 2015 in “Orphanet Journal of Rare Diseases” This review discusses ichthyosis with confetti, highlighting its genetic basis, clinical features, diagnostic criteria, and current treatment options but reports no new clinical results.
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 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.
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.
15 citations
,
September 2007 in “Cell & tissue research/Cell and tissue research” This study suggests that human embryonic stem cells may improve skin graft quality and functionality by enabling the identification and amplification of early ectodermal progenitors, pending confirmation from preclinical studies.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” This review discusses recent advances in molecular genetics and their impact on the accuracy and understanding of diagnosing inherited skin diseases but reports no new results.
11 citations
,
December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
9 citations
,
March 2022 in “Military Medical Research” This study developed a method to convert fibroblasts into sweat gland-like cells, suggesting potential for regenerating damaged skin and restoring sweat gland function.
9 citations
,
January 2017 in “Journal of the Egyptian Women's Dermatologic Society (Print)” This article discusses the use of dermoscopy for diagnosing hair and scalp disorders in children and reports no new clinical results.
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.
8 citations
,
March 2025 in “Developmental Biology” Integumentary organs adapt and evolve for survival, with potential uses in regenerative medicine.
7 citations
,
November 2007 in “Differentiation” This study found that NF-κB's p65/RelA subunit can directly activate hair keratin genes, suggesting a new role in hair formation that may inform the understanding of ectodermal dysplasias.