6 citations
,
January 2000 in “Dermatology” A girl's severely tangled hair couldn't be fixed and had to be cut due to a rare condition called plica neuropathica.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
4 citations
,
December 2014 in “Indian Journal of Dermatology” A rare skin condition with cysts was found on a 5-year-old boy's scalp.
A 5-year-old girl has sparse, dry, and brittle hair but is otherwise healthy.
March 2021 in “Revista da Associação Médica Brasileira” 5 citations
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September 1989 in “Pediatric dermatology” Persistent papular plaques on children's faces need better understanding and treatment.
3 citations
,
July 2004 in “SKINmed/Skinmed” A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
9 citations
,
December 2012 in “Indian Journal of Dermatology Venereology and Leprology” Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
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.
44 citations
,
January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
June 2025 in “British Journal of Dermatology” Lichen planopilaris may have a genetic link.
December 2020 in “Pathology” A man's skin condition and poor diet led to a scurvy diagnosis.
March 2024 in “Residência Pediátrica” An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
April 2025 in “Revista Digital de Postgrado” Severe malnutrition in young children causes various skin and nail issues, mainly pigmentation changes and extreme thinness.
5 citations
,
January 2021 in “Indian Journal of Pharmacology” Nilotinib can cause generalized keratosis pilaris.
2 citations
,
January 2018 in “Indian dermatology online journal” A homeopathic antidandruff shampoo caused severe hair matting in a girl.
February 2026 in “Frontiers in Medicine” Trichoscopy can help diagnose early congenital syphilis in newborns.
March 2024 in “Indian Journal of Dermatology” The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
2 citations
,
January 2000 in “Journal of Toxicologic Pathology” A single recessive gene causes sparse hair in certain Japanese White rabbits.
30 citations
,
May 1980 in “Journal of the American Academy of Dermatology” Alopecia areata can cause spotty white areas on nails.
February 2021 in “PubMed” A 2-year-old girl had a hair disorder not shared by her identical twin.
6 citations
,
July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.
April 2024 in “International journal of research in dermatology” Azathioprine can cause hair loss and matted hair.
6 citations
,
June 2008 in “Journal of the European Academy of Dermatology and Venereology” A man with Acrodermatitis continua did not get better with etanercept treatment, and his condition worsened, suggesting treatment effectiveness may vary by genetics and race.
17 citations
,
January 1991 in “Acta Dermato Venereologica” A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
12 citations
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June 2006 in “Pediatric blood & cancer” A 16-year-old boy had pernicious anemia, autoimmune hemolytic anemia, and later developed alopecia areata.
April 2021 in “Authorea (Authorea)” A 20-year-old woman had stable Progressive Hemifacial Atrophy and Vitiligo after treatment, suggesting a possible link between the conditions.
December 2013 in “International Journal of Dermatology” The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.