December 2025 in “TURKDERM” Facial trichostasis spinulosa is a chronic condition with significant cosmetic impact, especially in young women.
2 citations
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January 2023 in “Skin Appendage Disorders” Frontal fibrosing alopecia may run in families.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
January 2022 in “Clinical Cases in Dermatology” A 47-year-old man was diagnosed with a specific type of hair loss and advised to use certain medications and avoid hair transplants.
10 citations
,
July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
4 citations
,
October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
January 2007 in “Linchuang pifuke zazhi” A 15-year-old boy had a rare skin growth on his buttock.
13 citations
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February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
37 citations
,
January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
2 citations
,
December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
3 citations
,
January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
9 citations
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August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
August 2023 in “JAAD Case Reports” A woman with lupus experienced hair regrowth after treatment, but hair transplantation is not advised for her condition.
September 2023 in “Cutis” A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
32 citations
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January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
4 citations
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September 2011 in “Journal of the American Academy of Dermatology” A man developed a skin cancer called folliculotropic mycosis fungoides after a kidney transplant.
8 citations
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January 2006 in “Dermatology Online Journal” The girl's skin condition is benign but challenging to treat due to its size and location.
100 citations
,
November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
8 citations
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April 2017 in “Journal of The Royal Society Interface” Giant axonal neuropathy changes the structure of keratin in human hair.
April 2017 in “Journal of Investigative Dermatology” HPH-15, a new compound, effectively reduces skin fibrosis in experiments without causing harm.
May 2026 in “Journal of International Medical Research” Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
1 citations
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June 2022 in “Movement disorders clinical practice” A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
June 2021 in “International journal of research in dermatology” Shaving and avoiding brushing improved the patient's beard hair condition.
8 citations
,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
99 citations
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August 2009 in “Nature Genetics” Removing both Atr and Trp53 genes in adult mice causes severe tissue damage and death due to DNA damage.
59 citations
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November 2011 in “Development” Trps1 is essential for proper hair follicle development.