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.
79 citations
,
March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
2 citations
,
July 1994 in “Journal of Dermatological Science” Grafted human scalp samples on mice can produce human hair, useful for studying hair genetics.
87 citations
,
August 1974 in “Journal of Investigative Dermatology”
6 citations
,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
April 2017 in “Journal of Investigative Dermatology” A virus protein can activate a pathway that may lead to abnormal hair follicle development.
October 2025 in “Clinical Cosmetic and Investigational Dermatology” Targeting specific cell interactions may help treat skin fibrosis.
December 2022 in “Curēus” Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
16 citations
,
February 2010 in “Journal of the European Academy of Dermatology and Venereology” Fibrosing alopecia in a pattern distribution is a unique hair loss condition that may respond to antiandrogen therapy.
December 2022 in “The Turkish Journal of Pediatrics” Hair examination helps diagnose rare neurological diseases in children.
41 citations
,
January 1992 in “Journal of medical genetics” The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
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.
26 citations
,
April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
6 citations
,
June 2016 in “Experimental Dermatology” Frontal Fibrosing Alopecia is a poorly understood condition that is hard to treat and causes distressing hair loss.
37 citations
,
January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
4 citations
,
April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
17 citations
,
July 1984 in “British journal of dermatology/British journal of dermatology, Supplement” The four patients have a unique type of ichthyosis affecting hair follicles.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
December 2020 in “Skin appendage disorders” A young man with an unusual type of scarring hair loss suggests a possible new variant of a known scalp condition.
8 citations
,
May 2005 in “The American journal of dermatopathology/American journal of dermatopathology” The hair defect is due to abnormal inner root sheath keratinization.
71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
53 citations
,
August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
March 2025 in “International Journal of Trichology” FAPD in children may not depend on androgens and should be treated with anti-inflammatory measures and minoxidil.
August 2025 in “Skin Appendage Disorders” Topical minoxidil can help improve hair in trichonodosis.
3 citations
,
August 2017 in “Clinical case reports” A rare skin condition causes red and dark patches on the face and limbs.
Giant axonal neuropathy changes the structure of keratin in human hair, making it stiffer and stronger.
4 citations
,
January 2017 in “Journal of veterinary medical science” A dog had a rare skin tumor called desmoplastic tricholemmoma.