November 2022 in “Journal of the Endocrine Society” A woman's masculine features were caused by a rare ovarian tumor that produced male hormones.
2 citations
,
January 2007 in “Actas Dermo-Sifiliográficas” Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.
5 citations
,
May 2009 in “American Journal of Dermatopathology” A rare hair follicle tumor showed unusual high levels of mucin.
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.
January 2025 in “BMJ Case Reports” Precocious puberty can signal familial adenomatous polyposis.
1 citations
,
September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
53 citations
,
August 2015 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Excessive body hair can signal complex health issues.
13 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
October 2025 in “Indian Journal of Physiology and Pharmacology” Early diagnosis and treatment of endocrine disorders like HAIR-AN syndrome can improve outcomes in adolescents.
3 citations
,
May 2017 in “BMJ Case Reports” A 15-year-old boy's skin and hair condition worsened due to improper treatment, leading to severe health issues.
April 2022 in “Our Dermatology Online” A woman had unusual hair growth on one side of her chin without a known cause.
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.
1 citations
,
August 2015 in “PubMed” A woman with non-classic CAH had unusual heavy periods and high hormone levels, improved with treatment.
1 citations
,
July 2009 in “Journal of dermatology” A 29-year-old man had a jaw plaque diagnosed as follicular mucinosis, linked to nestin-positive hair follicle stem cells.
January 2011 in “Revista Portuguesa de Endocrinologia Diabetes e Metabolismo” Congenital adrenal hyperplasia may be linked to adrenal myelolipoma.
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 2011 in “Dermatologica Sinica” Taiwan reported its first case of a rare scalp condition with no clear cause or treatment.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
23 citations
,
July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
January 2020 in “Clinical Case Reports and Reviews” Lupus and frontal fibrosing alopecia may share a common cause.
21 citations
,
June 2010 in “Anais Brasileiros De Dermatologia” The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
1 citations
,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
October 2024 in “Journal of the Endocrine Society” Hirsutism in young girls can have causes other than PCOS, so diagnoses should be reassessed if treatments don't work.
1 citations
,
January 2013 in “Indian journal of dermatology, venereology, and leprology” A girl inherited excessive body hair from her mother and grandmother.
31 citations
,
December 2010 in “Journal of the American Academy of Dermatology” Loose anagen hair syndrome is caused by structural abnormalities in the hair follicle's inner root sheath.
7 citations
,
May 2019 in “Journal of the Formosan Medical Association” HSD3B1 gene variant and being overweight linked to hair loss in women with polycystic ovary syndrome.
October 2024 in “Journal of the Endocrine Society” Ovarian steroid cell tumors can mimic adrenal hyperplasia, and surgery can normalize hormone levels.
3 citations
,
December 2013 in “American Journal of Dermatopathology” A rare skin growth in a baby was successfully removed without coming back.
December 1987 in “Pediatric Dermatology” Hair bands are a new symptom of facio-genito-popliteal syndrome.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.