96 citations
,
July 2014 in “Cold Spring Harbor Perspectives in Medicine” This review discusses various stem cell compartments in adult murine and human epidermis, examining their expressed markers and characterization assays, and reports no new experimental results.
37 citations
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August 1999 in “Journal of Investigative Dermatology” This study identified a nonsense mutation in the zinc-finger domain of the hairless gene associated with congenital atrichia in a Japanese family, indicating a potential genetic cause for this rare form of alopecia.
29 citations
,
September 1989 in “Journal of The American Academy of Dermatology” This article describes cases of unusual scalp whorl patterns, including triple parietal and right temporal whorls, that were associated with normal development, and discusses theories of hair whorl development.
13 citations
,
April 1994 in “Baillière's clinical endocrinology and metabolism” This review discusses inherited forms of vitamin D-dependent rickets and explains their genetic and metabolic causes but reports no new clinical findings.
5 citations
,
May 2014 in “Clinical and Experimental Dermatology” This study found that novel compound heterozygous mutations in the desmoplakin gene lead to hair shaft abnormalities and can result in lethal cardiomyopathy.
4 citations
,
July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.
3 citations
,
January 2008 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” This article reviews factors influencing hidradenitis suppurativa, its clinical diagnosis, and the diverse management approaches but presents no new clinical findings.
3 citations
,
January 2021 in “Veterinary dermatology” This study describes a rare form of congenital alopecia in domestic short hair cats, characterized by hair shaft defects and follicular dystrophy similar to those seen in certain mutant mouse strains.
2 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” This case report describes a 57-year-old man's late diagnosis of X-linked adrenoleukodystrophy, highlighting the need to consider this condition in patients with non-autoimmune primary adrenal insufficiency and neurological issues.
1 citations
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June 2006 in “Experimental dermatology” This article reviews possible pathogenesis scenarios for hidradenitis suppurativa and emphasizes the need for focused research on the innate immune system of hair follicles to better understand the disease.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
January 2026 in “BMC Veterinary Research” The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.
January 2012 in “Methods in pharmacology and toxicology” This review discusses the expanding understanding of TRPV3's role in pain and skin pathology, while highlighting the need for further pharmacological research to fully resolve its functions.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
June 2002 in “International Journal of Cosmetic Surgery and Aesthetic Dermatology” This article is a book review published in the International Journal of Cosmetic Surgery and Aesthetic Dermatology and reports no new clinical findings.
43 citations
,
December 2020 in “PLOS Genetics” This study used a new statistical approach, PLACO, to identify several novel shared genetic regions associated with both Type 2 Diabetes and Prostate Cancer in two large GWAS datasets.
1 citations
,
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed significant differences in the skin microbiome between hidradenitis suppurativa patients and healthy individuals, notably with decreased β-diversity and a distinct abundance of certain bacteria in affected skin.
September 2021 in “CRC Press eBooks” This article discusses features, genetics, and diagnostic challenges of central centrifugal cicatricial alopecia in African American women but reports no new clinical results.
March 2017 in “Jurnal materi dan pembelajaran fisika” This review discusses applications of light diffraction in healthcare, highlighting its use in LASIK procedures, optogenetics, and measuring hair diameter, but reports no new results.
58 citations
,
October 2001 in “Dermatologic Clinics” This review discusses the categorization of hair loss and increased hair density disorders related to systemic diseases and reports no clinical results, emphasizing the potential diagnostic value of history, physical examination, and histopathologic data.
16 citations
,
June 2005 in “Clinical and Experimental Dermatology” In this study of 30 severe anorexia nervosa patients, true acquired pili torti was not found although twisted hair was observed in 6.6% of cases.
12 citations
,
October 1996 in “Dermatologic clinics” This review outlines the diagnostic criteria for congenital and hereditary hair shaft abnormalities and emphasizes the need to understand the weathering process in assessing these disorders.
4 citations
,
January 2014 in “Indian dermatology online journal” This article discusses the genetic hair disorder monilethrix, characterized by beaded, fragile hair due to defective keratin genes, and reports no effective treatment currently available; variability in severity was noted among affected siblings.
1 citations
,
February 1988 in “The BMJ” The document explains different hair and scalp conditions, including common hair loss after pregnancy or illness, drug-induced hair loss, hereditary excessive hair growth, patterned baldness, autoimmune hair loss, and permanent loss due to skin disease, with generally limited treatment options.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study explores how EGFR signaling impacts skin inflammation and follicular integrity during hair eruption, aiming to identify druggable pathways to mitigate skin inflammation in cancer patients receiving EGFR inhibitors.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study using a genetic mouse model found that S. aureus-driven dysbiosis sustains inflammatory skin side effects from EGFR inhibitors, suggesting prophylactic antibiotic treatment may reduce rash severity without fixing barrier defects.
April 2003 in “Experimental Dermatology” This workshop review from the Australian Hair and Wool Research Society discusses findings in cutaneous biology and endocrinology but presents no new research results.
March 2025 in “The Scientific Issues of Ternopil Volodymyr Hnatiuk National Pedagogical University Series pedagogy” This review discusses the clinical phenotypes of primary mitochondrial cytopathies linked to significant genetic defects in mitochondrial DNA, reporting no new clinical results; the authors emphasize the need for differential diagnosis.
78 citations
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study reports that the same androgen receptor gene mutation within a family can lead to both complete and partial androgen insensitivity syndromes, suggesting that genetic defects alone may not predict clinical phenotype.