53 citations
,
July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
1 citations
,
March 2006 in “Journal of Cosmetic Dermatology” The woman's forehead lesion was caused by ointment use and resolved with treatment.
1 citations
,
July 2023 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
June 2026 in “Clinical Case Reports” Topical minoxidil and tretinoin improved hair growth in a girl with EDSS1 over two years.
4 citations
,
January 2020 in “Indian dermatology online journal” Lichen simplex chronicus on the scalp can be diagnosed by specific hair and skin signs and treated with corticosteroids and therapy.
175 citations
,
September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
3 citations
,
January 2013 in “Türk veterinerlik ve hayvancılık dergisi/Turkish journal of veterinary and animal sciences” A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.
February 2022 in “International journal of research in dermatology” The document concludes that proper diagnosis and treatment of hair shaft disorders require understanding their unique causes and avoiding hair-damaging practices.
49 citations
,
April 2007 in “Pediatric Dermatology” Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
5 citations
,
May 2017 in “Journal of dermatological science” The combined treatment effectively managed severe skin issues in Olmsted syndrome.
February 2024 in “Journal of Dermatological Science” Curved hair can develop when hair cells merge abnormally during growth.
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.
January 2002 in “Linchuang pifuke zazhi” A young woman had a rare scalp tumor usually found in older women.
25 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
January 2021 in “Nasza Dermatologia Online” Plica polonica is a rare condition where hair becomes irreversibly tangled, and the treatment is to cut the matted hair.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
11 citations
,
March 2001 in “Clinics in Dermatology” Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
1 citations
,
January 2025 in “JAAD reviews.” Hypertrichosis involves excessive hair growth and needs careful diagnosis and treatment, considering its psychological effects.
February 2026 in “Frontiers in Medicine” Trichoscopy can help diagnose early congenital syphilis in newborns.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
3 citations
,
May 2019 in “Australasian Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome may be caused by autoimmune factors, not just stress or malabsorption.
January 2005 in “Journal of Zhejiang University(Sciences Edition)” Yuyi hairless mice lose hair after birth, develop thick, loose skin with folds, and show disorganized skin structure as they age.
July 2023 in “The Keio Journal of Medicine” Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
October 1995 in “Pediatric Research”
August 2018 in “Journal of The American Academy of Dermatology” A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.