16 citations
,
January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
June 2018 in “Chinese Journal of Dermatology” Connective tissue nevi have distinct features, and reflectance confocal microscopy is useful for early diagnosis.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
100 citations
,
November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
87 citations
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August 1974 in “Journal of Investigative Dermatology”
22 citations
,
December 2003 in “Veterinary clinical pathology” The Persian cat has a skin infection caused by a fungus, treatable with antifungal medication.
15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
3 citations
,
January 2019 in “Case Reports in Ophthalmology” VKHD and sarcoidosis may share a common cause.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
June 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” ILC1-like cells can cause alopecia areata by attacking hair follicles.
3 citations
,
April 2018 in “Journal of Investigative Dermatology” CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
1 citations
,
January 2019 in “International Journal of Medical Reviews and Case Reports” Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
January 2012 in “The Year book of dermatology” August 2004 in “Veterinary Dermatology” Cats with internal diseases can develop skin issues that may require specific treatments.
44 citations
,
September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
December 2019 in “Mehmet Akif Ersoy Üniversitesi Sağlık Bilimleri Enstitüsü dergisi” One cat with low thyroid hormone had growth issues, and another with high thyroid hormone had skin problems; both got better with treatment.
3 citations
,
June 2023 in “Modern Pathology” GLI1 RNA CISH effectively identifies basal cell carcinoma but is less specific for benign follicular tumors.
April 2020 in “Journal of the Endocrine Society” A woman's severe hirsutism was caused by Leydig cell tumors in her ovaries, which improved after surgery.
1 citations
,
January 2018 in “Journal of SAFOMS” A rare ovarian tumor can cause unusual male-like symptoms, but surgery usually leads to a good outcome.
20 citations
,
January 2002 in “Laboratory Animals” Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
January 2018 in “eScholarship (California Digital Library)” Hair follicle stem cells may cause squamous cell carcinoma due to a metabolic shift towards glycolysis.
August 2025 in “Biomedicines” Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
32 citations
,
January 2010 in “Journal of Korean Medical Science” A rare adrenal tumor in a 14-year-old girl caused male-like symptoms and was successfully removed.
5 citations
,
February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
July 2024 in “JAAD Case Reports” Corticosteroid injections for hair loss may cause eye problems, so caution is needed.
January 2011 in “Yearbook of Dermatology and Dermatologic Surgery”
August 2023 in “Gastroenterology” A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
2 citations
,
November 2022 in “IP Indian journal of clinical and experimental dermatology” Dermoscopic and histopathological features combined can help diagnose Pityriasis versicolor.
3 citations
,
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” ILC1 cells contribute to hair loss in alopecia areata.