4 citations
,
August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
26 citations
,
January 1993 in “Dermatology” A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
20 citations
,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
3 citations
,
November 2015 in “International Journal of Dermatology” Trichostasis spinulosa is common but often underdiagnosed, mainly affecting women's faces.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
December 2023 in “Clinical, cosmetic and investigational dermatology” The new hair transplant technique is fast, effective, and satisfying for patients with different hair types.
November 2013 in “Journal of clinical & experimental dermatology research” Using urinary bladder matrix and platelet rich plasma can effectively treat transplant scars and prevent hair loss.
January 2019 in “Global Dermatology” Genetic hair shaft abnormalities can be seen with microscopes and often affect scalp hair.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
October 2019 in “European Journal of Dermatology” The boy's hair and skin color differences are due to a pigmentation disorder.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
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.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
April 2018 in “Journal of Investigative Dermatology” Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
30 citations
,
May 1980 in “Journal of the American Academy of Dermatology” Alopecia areata can cause spotty white areas on nails.
40 citations
,
September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
195 citations
,
November 2001 in “The Journal of Cell Biology” Desmocollin 1 is essential for strong skin and proper skin function.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
December 2025 in “Cureus” Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.
1 citations
,
March 2010 in “International Journal of Cosmetic Science” The Aqualon SLT device measures hair stiffness and slipperiness to evaluate hair treatments.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
December 2022 in “The journal of pediatrics/The Journal of pediatrics” A young girl's foot lesion was actually a rare condition caused by a hair fragment under the skin, not a parasite.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
22 citations
,
October 2007 in “Journal of Investigative Dermatology” Stem cells in mouse nails are found in the nail matrix and may control nail growth.
April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Gap junctions help control feather pattern formation by enabling cell communication.