89 citations
,
September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
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.
158 citations
,
January 2009 in “The International Journal of Developmental Biology” This perspective highlights the potential of reptile integument as an experimental model to understand the evolution of amniote skin structures, but reports no new research findings.
June 2001 in “European Journal of Dermatology” This case study describes a 54-year-old woman with a rare pattern of asymmetrical hair loss resembling androgenetic alopecia, alongside sparse body hair and near absence of eyebrows and eyelashes, while other ectodermal features were normal.
41 citations
,
October 2008 in “The American journal of pathology” This study found that reducing BMP signaling in mouse nipple epithelia, achieved through Noggin overexpression, can convert them into hairy skin with pilosebaceous units.
13 citations
,
December 2001 in “Dermatologic therapy” This review discusses the clinical presentations of alopecia areata, introduces guidelines for treatment studies, and explores potential changes in cutaneous innervation, but reports no new clinical results.
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.
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.
34 citations
,
August 2016 in “Scientific Reports” This study validated a protocol for inducing surface ectoderm differentiation from human induced pluripotent stem cells and highlighted the role of TGFβ signaling pathways in this process.
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.
1 citations
,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
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.
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.
1 citations
,
April 2025 in “Pediatria i Medycyna Rodzinna” This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.
January 2026 in “Journal of Clinical and Investigative Dermatology” This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.
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.
160 citations
,
January 2014 in “Seminars in cell & developmental biology” This review discusses the shared molecular and cellular processes in the early development stages of skin appendages like hair follicles, teeth, and mammary glands, reporting no new results.
86 citations
,
December 2001 in “Experimental dermatology” This review classifies mutant mice with hair abnormalities into six categories, providing an annotated table that serves as a reference for understanding the molecular controls of hair growth.
52 citations
,
October 2012 in “Journal of Dermatological Science” This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no 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.
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.
1 citations
,
November 2018 in “Journal of pathology and translational medicine” Fetal death was caused by umbilical cord stricture with hair growth in the Wharton jelly.
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.
March 2015 in “Plastic and reconstructive surgery” This chapter reviews the skin's structure and its clinical relevance, highlighting connective tissue diseases and the potential for novel treatments like protein, cell, or stem cell transfer, but reports no new findings.
28 citations
,
February 2012 in “PLoS ONE” In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.
21 citations
,
April 1982 in “Genetics Research” In this study, researchers observed that mice with the naked gene showed frequent absence of hair cuticle and cortical cells during follicle growth, with abnormal keratin deposition also noted.
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.
271 citations
,
March 1999 in “Developmental biology” This study reveals that overexpression of Wnt3 in transgenic mouse skin leads to a short-hair phenotype and cyclical balding due to structural defects in hair shafts, highlighting a role for WNT signaling in hair growth regulation.
36 citations
,
January 2014 in “Elsevier eBooks” This narrative review discusses the structure and functions of the skin, focusing on its barrier role, self-repair, thermoregulation, and immune functions, and reports no new experimental results.
1 citations
,
January 2012 in “Elsevier eBooks” The document concludes that the skin is a complex organ providing protection, sensation, and healing, with challenges in treating conditions like itchiness.