26 citations
,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
12 citations
,
January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
7 citations
,
August 2022 in “Nature communications” A specific group of slow-growing stem cells marked by Thy1 is crucial for skin maintenance and healing in mice.
9 citations
,
July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
September 2025 in “Indian Journal of Dermatology” A Turkish woman has a hair condition caused by a LIPH gene mutation.
1 citations
,
January 2019 in “International Journal of Medical Reviews and Case Reports” Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
39 citations
,
January 1998 in “Dermatology” Milia, SM, and EVHC may be related conditions, not separate ones.
61 citations
,
April 1980 in “Journal of the American Academy of Dermatology” A new syndrome may link skin, growth, mental, and hair issues.
3 citations
,
June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
3 citations
,
December 1967 in “Australasian Journal of Dermatology” Becker's Melanosis and Hypertrichosis mainly affects young males, causing brown skin patches and extra hair on one side of the upper body.
June 2011 in “European Journal of Pediatric Dermatology” An 11-year-old girl with hair thinning was diagnosed with monilethrix and early androgenetic alopecia.
175 citations
,
December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
5 citations
,
January 2009 in “International Journal of Trichology” Two siblings had a rare hair condition with banded hair, which doesn't need treatment.
7 citations
,
May 1988 in “International Journal of Dermatology” The patient's hair has unique structural differences with alternating bright and dark bands.
264 citations
,
October 1958 in “Archives of Dermatology” A 4-year-old girl has a rare hair condition causing fragile, short hair.
3 citations
,
January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
September 1973 in “Primates” 26 citations
,
January 1993 in “Dermatology” A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
1 citations
,
January 2018 in “Acta dermato-venereologica” A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
32 citations
,
May 1986 in “Archives of Dermatology” The condition is likely inherited in an autosomal-dominant pattern.
13 citations
,
July 2012 in “International Journal of Trichology” TTD symptoms vary widely, requiring thorough evaluations.
January 2022 in “European journal of anatomy” A man had four testicles, two of which were outside the scrotum and looked like fatty lumps.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
34 citations
,
June 1992 in “Journal of Cutaneous Pathology” Harlequin ichthyosis involves abnormal skin cell structures and giant mitochondria, affecting skin and hair.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
March 2024 in “Residência Pediátrica” An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
A six-year-old girl with extra hair on her elbows was treated with hair removal methods.
42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.