8 citations
,
May 2005 in “The American journal of dermatopathology/American journal of dermatopathology” The hair defect is due to abnormal inner root sheath keratinization.
10 citations
,
January 1997 in “Dermatology” Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
21 citations
,
March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
2 citations
,
June 2003 in “American Journal of Dermatopathology” A unique case of skin cancer showed unusual calcification, possibly linked to calcium-binding proteins.
33 citations
,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
16 citations
,
March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
29 citations
,
July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
1 citations
,
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing HIF-P4H-2 from certain skin cells in mice causes hair loss on the body but not the head.
33 citations
,
March 2006 in “Seminars in cutaneous medicine and surgery” The document explains how to identify different hair problems using a microscope.
8 citations
,
April 2014 in “Clinical and Experimental Dermatology” Eruptive vellus hair cysts likely originate from the infrainfundibulum and sebaceous duct.
7 citations
,
January 2020 in “Journal of Dermatology” Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
1 citations
,
September 2015 in “Serbian Journal of Dermatology and Venereology/Serbian Journal of Dermatology and Venerology” A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.
5 citations
,
February 1981 in “Experientia” A new gene causes hairlessness and skin cysts in rats.
8 citations
,
January 2014 in “Indian Dermatology Online Journal” Trichostasis spinulosa is a common but often unnoticed skin condition involving bundled vellus hairs, especially in people with darker skin or UV exposure.
8 citations
,
September 2016 in “The American Journal of Dermatopathology” Enlarged sweat gland ducts may indicate scarring hair loss.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
59 citations
,
June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
26 citations
,
August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
2 citations
,
May 2011 in “International Journal of Dermatology” A 12-year-old boy in rural south India had a rare skin condition causing hair loss and inability to sweat.
July 2021 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Monilethrix causes different levels of hair loss in family members.
39 citations
,
July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
7 citations
,
August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
25 citations
,
April 2008 in “Clinical and experimental dermatology” EFFC might be common but underreported.
28 citations
,
May 2000 in “Proceedings of the National Academy of Sciences” The Walleye dermal sarcoma virus cyclin causes excessive skin cell growth in mice.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
January 2018 in “The Kaohsiung journal of medical sciences” A young man had a rare case of hair cysts on his elbows, which was hard to diagnose and treat.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
June 2014 in “The Journal of Dermatology” A patient with a rare chromosome condition also had a rare type of hair loss.