112 citations
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January 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Desmoglein 3 is important for keeping hair follicle stem cells inactive and maintaining their special properties.
2 citations
,
January 2019 in “Acta dermato-venereologica” 27 citations
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June 1989 in “Journal of Medical Genetics” Hairy elbows may be linked to short stature, but the exact cause is unclear.
17 citations
,
January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
36 citations
,
July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
3 citations
,
January 2020 in “JAAD Case Reports” A girl had two rare hair conditions that helped understand their overlap.
2 citations
,
June 2001 in “Medical Electron Microscopy” Trichilemmal cysts may form from hair follicle outer root sheath growth.
40 citations
,
August 2010 in “Archives of dermatology” A 5-year-old boy's skin condition improved with systemic valganciclovir after a cardiac transplant and immunosuppressive therapy.
April 2018 in “Dermatologic Surgery”
1 citations
,
December 2019 in “American journal of ophthalmology. Case reports” A rare skin condition caused droopy and outward-turning eyelids in a patient.
2 citations
,
March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
13 citations
,
January 2021 in “The American journal of gastroenterology” Sirolimus effectively reduces lesions and improves quality of life in Blue Rubber Bleb Nevus Syndrome with manageable side effects.
4 citations
,
January 2014 in “Indian dermatology online journal” Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
April 2025 in “Current Rheumatology Reviews” Recognizing unusual symptoms can lead to early diagnosis and effective treatment of systemic lupus erythematosus.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
1 citations
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December 2022 in “Pediatric dermatology” A boy developed a rare skin condition after recovering from a severe skin reaction, and it improved with lotion treatment.
30 citations
,
August 1984 in “Journal of the American Academy of Dermatology” Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
29 citations
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February 1989 in “Journal of Cutaneous Pathology” A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
January 2011 in “Linchuang pifuke zazhi”
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
3 citations
,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
10 citations
,
January 1997 in “Dermatology” Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
Genetic factors might cause fibrosing alopecia linked to hair shaft abnormalities.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
February 2025 in “Indian Dermatology Online Journal” Pincer nails are rare in lupus patients and may be managed conservatively.
13 citations
,
September 2019 in “Clinical, Cosmetic and Investigational Dermatology” Early treatment of EPDS can improve outcomes and reduce recurrence risk.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
October 2019 in “Journal of Evolution of Medical and Dental Sciences” A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.