11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
37 citations
,
June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
372 citations
,
December 2004 in “Nature Genetics”
January 2012 in “International Journal of Trichology” Two siblings have a rare genetic condition causing curly, coarse hair.
179 citations
,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
January 2023 in “Skin appendage disorders” Two Hispanic women developed Plica neuropathica, a condition causing tangled hair, possibly due to hair damage and various risk factors.
January 2015 in “Springer eBooks” Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
73 citations
,
April 2010 in “Anais Brasileiros de Dermatologia” Dermoscopy helps diagnose and monitor treatment for hair loss from scarring conditions like discoid lupus and lichen planopilaris.
December 2025 in “International Journal of Dermatology” Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.
2 citations
,
August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
1 citations
,
August 2018 in “Journal of the American Academy of Dermatology” 2 citations
,
May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
1 citations
,
July 2017 in “PubMed” Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
December 2022 in “The Turkish Journal of Pediatrics” Hair examination helps diagnose rare neurological diseases in children.
14 citations
,
March 2014 in “Journal of The American Academy of Dermatology” Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
January 2026 in “Forum Dermatologicum” Thorough hair examination is crucial for accurate diagnosis and treatment.
4 citations
,
May 2020 in “The journal of pediatrics/The Journal of pediatrics” A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
February 2010 in “Journal of The American Academy of Dermatology” NB-002 is a promising new topical treatment for fungal nail infections, showing better results than a non-medicated option.
August 2025 in “Skin Appendage Disorders” Topical minoxidil can help improve hair in trichonodosis.
January 2021 in “Dermatology online journal” One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
1 citations
,
October 2019 in “International Journal of Dermatology and Venereology” Zebrafish help understand genetic causes of skin pigment disorders like albinism.
March 2026 in “Dermatology Online Journal” Cystic panfolliculoma is a rare, harmless tumor that can be confused with other skin tumors.
7 citations
,
October 2016 in “American Journal of Dermatopathology” The man died from lung cancer, not the rare nail tumor.
4 citations
,
January 2025 in “Diagnostics” High-frequency ultrasonography helps diagnose and manage hair and nail disorders safely and effectively.
16 citations
,
May 2013 in “Australasian Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome is reversible by treating the gut issues and doesn't need steroid treatment for the hair itself.