74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
April 2017 in “Journal of Investigative Dermatology” The study found a link between the severity of Lichen Planopilaris seen by doctors and the details seen under a microscope, and created a new way to measure this severity.
March 2023 in “International journal of integrated medical research” Keratosis pilaris is a common skin condition where hair follicles get clogged with keratin, mostly on the arms and thighs.
13 citations
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September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
11 citations
,
December 2010 in “Archives of Dermatology” A man with rare skin changes on his fingers was diagnosed with multiple myeloma-linked amyloidosis.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
4 citations
,
January 2013 in “International Journal of Trichology” Monilethrix has no effective treatment, but avoiding hair trauma helps manage it.
42 citations
,
September 1985 in “British Journal of Dermatology” Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
78 citations
,
May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
41 citations
,
December 2008 in “Pediatric Dermatology” Trichoscopy can diagnose Netherton syndrome without pulling hairs.
3 citations
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August 2024 in “Skin Research and Technology” LC-OCT can help identify lupus-related scarring hair loss by spotting unique features.
April 2012 in “Journal of evolution of medical and dental sciences” No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
6 citations
,
January 2008 in “Indian Journal of Dermatology” Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
175 citations
,
August 1997 in “Nature Genetics”
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.
15 citations
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January 2014 in “Dermatology” Some patients with a type of skin lymphoma can experience a rare, non-scarring hair loss that looks like another hair loss condition but has distinct features.
January 2022 in “Clinical dermatology review” A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
1 citations
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October 2023 in “Skin research and technology” LC-OCT is an effective new method for diagnosing classic lichen planopilaris.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
February 2018 in “BMJ case reports” An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
28 citations
,
October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
10 citations
,
July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
2 citations
,
August 2024 in “Preprints.org” Fluocinolone may help treat scalp symptoms in ichthyosis patients.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
109 citations
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September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
June 2023 in “British Journal of Dermatology” Facial lichen planopilaris may be triggered by shaving and mustard oil, and early detection is crucial for better treatment outcomes.
December 2025 in “Clinical Case Reports” Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.