November 2021 in “CRC Press eBooks” This article reviews various congenital and acquired hair shaft disorders, examining their characteristics and potential links to wider health conditions, but does not present any new clinical results.
10 citations
,
March 1997 in “Pediatric Dermatology” This case report describes a patient with trichothiodystrophy presenting with autism, mental retardation, and seizures, characterized by distinct hair abnormalities under microscopy.
42 citations
,
September 1985 in “British Journal of Dermatology” This study found that trichothiodystrophic hair shows reduced and disoriented protein deposition in follicles, with both the cuticle and cortex affected, providing localized structural insights into keratin abnormalities.
17 citations
,
April 1997 in “American Journal of Dermatopathology” This report provides the first microscopic description of pachyonychia congenita-associated alopecia, identifying a combination of histological features that might be unique to this condition.
3 citations
,
January 2018 in “Skin Appendage Disorders” This case report describes two instances of habit tic nail deformities associated with alopecia areata.
December 2025 in “IP Indian Journal of Clinical and Experimental Dermatology” Hair shaft disorders often indicate genetic or systemic issues and are managed by minimizing damage.
29 citations
,
January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
1 citations
,
August 2024 in “Pediatric Dermatology” In this report, researchers describe an unusual case of congenital pili multigemini, a hair follicle disorder, presenting on the eyebrow of a female infant, highlighting its rarity and atypical location.
18 citations
,
January 1992 in “Dermatology” This case report details atrichia with papular lesions in a 4-year-old girl, highlighting specific histological findings on her scalp and other affected areas.
38 citations
,
November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This article reviews the anatomical complexity and developmental aspects of hair follicles for analyzing abnormalities, but reports no new clinical findings.
15 citations
,
February 1999 in “The anatomical record” This study found that defective cross-linking in hair cuticles is observable in a minority of mouse hair mutants, suggesting different proteins are involved in cross-linking across cell types.
April 2018 in “Journal of Investigative Dermatology” Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
September 2022 in “JAAD case reports” This case study of a 45-year-old man from Tonga describes the identification of pachyonychia congenita through genetic testing, revealing a mutation in the keratin gene KRT16, associated with chronic painful skin and nail conditions.
27 citations
,
June 1989 in “Journal of Medical Genetics” This case report describes four patients with hypertrichosis cubiti and short stature, but could not determine a genetic link between hypertrichosis cubiti and skeletal dysplasia.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.
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.
7 citations
,
November 1997 in “Pediatric Dermatology” This case report identifies an association between trichothiodystrophy and a urologic malformation with primary hypercalciuria, adding to the spectrum of TTD-related abnormalities.
March 2023 in “Journal of Cosmetic Dermatology” The researchers in this study described the use of trichoscopy to assist in diagnosing aplasia cutis congenita of the scalp in a dark-skinned newborn, noting that trichoscopic findings can differ from those seen in light-skinned patients, yet remain a valuable diagnostic tool.
December 2016 in “John Wiley & Sons, Ltd eBooks” This chapter reviews disorders of skin appendages including miliaria, acne, and alopecia, providing guidance on management and treatment but does not present new clinical findings.
4 citations
,
September 1992 in “Journal of Small Animal Practice” This case report details a French bulldog with congenital alopecia, featuring reduced hair follicles and epidermal abnormalities, which are typical of the condition.
22 citations
,
May 2007 in “Molecular Biotechnology”
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This research suggests that hair keratins evolved from claw keratins in a hairless ancestor, with Hoxc13 controlling their expression in tetrapods, evidenced by the knockout of Hoxc13 hindering claw formation in Xenopus tropicalis frogs.
11 citations
,
January 2005 in “Brazilian Journal of Medical and Biological Research” This study found no qualitative skin differences during development between mutant hairless USP mice and BALB/c mice, except for enlarged cysts in the hairless strain.
81 citations
,
June 2012 in “European journal of human genetics” This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
46 citations
,
September 2007 in “Journal of Investigative Dermatology” 33 citations
,
September 1987 in “American Journal of Medical Genetics” This study documents dominant transmission and complete penetrance of uncombable hair syndrome in a family, despite the father lacking visible abnormalities.
32 citations
,
April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrates that keratin K2 is crucial for proper keratinocyte structure and function in specific mouse skin areas, and its deficiency leads to cellular aggregates and skin abnormalities.
February 2022 in “International journal of research in dermatology” This case series describes seven distinct hair shaft disorders, highlighting the importance of accurate diagnosis since these conditions are often treated incorrectly as alopecias without improvement.
This article reviews the history and characteristics of the rare nude phenotype SCID, primarily distinguished by severe T cell immunodeficiency and notable skin and hair abnormalities, but reports no new clinical findings.
10 citations
,
July 2001 in “PubMed” This case report describes two patients with a likely new type of pachyonychia, characterized by nail thickening and severe generalized hypotrichosis, possibly linked to a mutation in a hard keratin.