40 citations
,
May 2005 in “Journal of Cell Science” Truncated LTBP-1 disrupts TGF-β signaling, affecting hair growth.
7 citations
,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
28 citations
,
January 1985 in “Journal of the American Academy of Dermatology” A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
13 citations
,
January 2018 in “Skin Appendage Disorders” Dermoscopy improves diagnosis and treatment planning for trichostasis spinulosa.
34 citations
,
June 2020 in “British journal of dermatology/British journal of dermatology, Supplement” Frontal fibrosing alopecia is linked to increased immune system activity and reduced stem cells, suggesting early treatment targeting this pathway might prevent hair follicle damage.
3 citations
,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
5 citations
,
May 2009 in “American Journal of Dermatopathology” A rare hair follicle tumor showed unusual high levels of mucin.
26 citations
,
April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
April 2012 in “Journal of evolution of medical and dental sciences” No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
3 citations
,
August 2025 in “Cell” Fibroblast bioelectric signaling can promote hair growth and may help treat hair loss.
1 citations
,
May 2026 in “Nature Communications” CD19-CAR T cell therapy may help regenerate skin in systemic sclerosis.
April 2024 in “Anais Brasileiros de Dermatologia”
August 2018 in “Pediatric Dermatology” A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
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.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
May 2025 in “Journal of Clinical Images and Medical Case Reports” Hair transplants can trigger a rare scarring hair loss that is hard to treat.
5 citations
,
August 2019 in “iScience” Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.
January 1999 in “Journal of Investigative Dermatology” 15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
4 citations
,
January 2017 in “Journal of veterinary medical science” A dog had a rare skin tumor called desmoplastic tricholemmoma.
18 citations
,
January 2013 in “Dermatology Online Journal” Trichofolliculoma is a rare skin bump on the face or scalp.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
December 2022 in “The Turkish Journal of Pediatrics” Hair examination helps diagnose rare neurological diseases in children.
May 2024 in “JCI insight” A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
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
,
April 2016 in “Journal of the American Academy of Dermatology” Autoimmune conditions can be linked to trichoepitheliomas, with treatment focusing on cosmetic concerns.
5 citations
,
September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.