26 citations
,
January 1983 in “PubMed” Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
252 citations
,
January 1991 in “Electron Microscopy Reviews” 14 citations
,
May 2016 in “International Journal of Molecular Sciences” PP2Acα is essential for proper hair and skin development.
March 2021 in “Annals of King Edward Medical University” Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
January 1990 in “The Nishinihon Journal of Dermatology” Follicular structures help differentiate keratoacanthoma from squamous cell carcinoma.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
November 2024 in “Elsevier eBooks” 47 citations
,
April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
November 2025 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
27 citations
,
August 2017 in “Anais Brasileiros de Dermatologia” N-acetylcysteine effectively treats trichotillomania.
10 citations
,
November 1997 in “British Journal of Dermatology” A 10-year-old boy had the earliest reported case of hair that became progressively kinkier but eventually returned to normal on its own.
1 citations
,
July 2023 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
October 2018 in “Deep Blue (University of Michigan)” Hair follicle development involves specific cells and genes, crucial for understanding severe skin diseases like harlequin ichthyosis.
May 2020 in “JOJ Dermatology & Cosmetics” A rare skin condition usually on the face was found on a man's heel.
11 citations
,
January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
22 citations
,
May 2011 in “American Journal of Clinical Dermatology” Recognizing and managing skin-related psychiatric disorders in children is crucial for effective treatment.
March 2026 in “Indian Journal of Dermatopathology and Diagnostic Dermatology” Corkscrew hairs can help diagnose trichotillomania.
December 2025 in “Journal of Clinical Medicine” Surgical debridement and targeted therapies can effectively heal chronic wounds in KID syndrome.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
2 citations
,
October 2023 in “Philosophical transactions - Royal Society. Biological sciences” Enzymes that change arginine to citrulline are important for skin barrier and hair formation, and their malfunction can lead to skin conditions and hair disorders.
84 citations
,
October 2005 in “Annals of Clinical Psychiatry” Hairpulling, skin picking, and nail biting cause significant harm and need more research for better treatments.
9 citations
,
October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
5 citations
,
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
February 2026 in “International Journal of Homoeopathic Sciences” Plica Polonica is a rare hair disorder causing severe matting, managed by detangling or cutting, and prevented with regular hair care.
1 citations
,
January 2025 in “Journal of Fungi” Erythema nodosum linked to kerion can be treated effectively with antifungals and steroids to reduce scarring.
October 2020 in “Pediatrics in Review” The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
8 citations
,
April 2009 in “International journal of oncology” Hair follicle cells resist turning into skin cells.
July 2007 in “Manuals in biomedical research” 62 citations
,
October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
175 citations
,
August 1997 in “Nature Genetics”