1 citations
,
January 2015 in “Journal of clinical case reports” KFSD causes scarring hair loss and skin roughness, mainly in males.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
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.
A high fat lard diet may protect against skin fibrosis and affect hair growth.
8 citations
,
November 2018 in “Australasian Journal of Dermatology” Frontal fibrosing alopecia in families shows similar signs to individual cases and may have a genetic link.
January 2020 in “Dermatology Online Journal” A young Caucasian man experienced a rare type of hair loss on the back of his head.
June 2021 in “International journal of research in dermatology” A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
37 citations
,
June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
March 2024 in “Indian Journal of Dermatology” The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
11 citations
,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
March 2023 in “Journal of Cosmetic Dermatology” A woman's progressive hair loss was correctly diagnosed as a rare condition called fibrosing alopecia in a pattern distribution after initially being mistaken for a more common type.
26 citations
,
September 1969 in “The American journal of medicine” Cronkhite-Canada Syndrome often leads to death within 6-18 months.
39 citations
,
November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” Fatp4 is crucial for healthy skin development and function.
12 citations
,
January 2010 in “Acta Dermato Venereologica” Women with early onset androgenetic alopecia have worse lipid profiles.
19 citations
,
October 1996 in “International Journal of Dermatology” Pseudopelade is a rare inherited hair loss condition with a genetic cause.
3 citations
,
March 2012 in “Actas Dermo-Sifiliográficas” An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
August 2016 in “Journal of the Portuguese Society of Dermatology and Venereology” Two women with darker skin had both frontal hair thinning and skin discoloration.
10 citations
,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
188 citations
,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
73 citations
,
June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
20 citations
,
October 2005 in “Archives of Dermatological Research” A 2-year-old boy with a rare type of lupus causing hair loss improved with oral steroids.
1 citations
,
July 2017 in “PubMed” Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
7 citations
,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
13 citations
,
July 2014 in “The Journal of Dermatology” Dermoscopy helped diagnose discoid lupus erythematosus in two patients without needing skin biopsies.
January 2023 in “PARIPEX INDIAN JOURNAL OF RESEARCH” Vitamin D Dependent Rickets Type-2A can cause complete hair loss and bone growth issues in infants.
12 citations
,
June 2016 in “Clinical and experimental dermatology” A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.