5 citations
,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
1 citations
,
October 2019 in “International journal of contemporary pediatrics” A 12-year-old boy with twenty nail dystrophy, a condition affecting all nails, was treated conservatively due to its self-limiting nature and good prognosis.
18 citations
,
September 1994 in “Clinical and Experimental Dermatology” Localized trichorrhexis nodosa is a hair condition where hair becomes fragile and breaks easily due to damage.
16 citations
,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
Trichorrhexis nodosa causes hair to break easily, often affecting young to middle-aged black women.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
1 citations
,
August 2021 in “Movement disorders clinical practice” A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
3 citations
,
May 2023 in “Pediatric Dermatology” A 9-year-old boy had a rare scalp condition usually seen in young men.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
2 citations
,
January 2000 in “Journal of Toxicologic Pathology” A single recessive gene causes sparse hair in certain Japanese White rabbits.
3 citations
,
March 1966 in “Archives of Dermatology” Nevoid basal cell carcinomas start in the skin's top layer and hair follicles.
5 citations
,
August 2014 in “Archivos Argentinos de Pediatria” A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
January 2022 in “Clinical Cases in Dermatology” A man developed a unique rash on his neck after taking niacinamide, and doctors recommend considering niacinamide as a cause for similar rashes and using dermatoscopy for diagnosis.
June 2025 in “British Journal of Dermatology” Nail abnormalities in children can indicate deeper health issues.
15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
21 citations
,
April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
October 2019 in “European Journal of Dermatology” The boy's hair and skin color differences are due to a pigmentation disorder.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
40 citations
,
May 2010 in “American Journal of Clinical Dermatology” AKN might be a skin marker for metabolic syndrome.
32 citations
,
May 1986 in “Archives of Dermatology” The condition is likely inherited in an autosomal-dominant pattern.
6 citations
,
February 2020 in “Journal of Cutaneous Pathology” Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
5 citations
,
August 1925 in “Archives of dermatology” An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
2 citations
,
August 2014 in “Archivos argentinos de pediatría” A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.