21 citations
,
January 2013 in “Clinical Endoscopy” First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.
Loose anagen syndrome causes easy hair shedding in children, often resolving on its own.
10 citations
,
January 2014 in “International Journal of Trichology” Sarcoidosis can cause scarring hair loss on the scalp, which is rare.
1 citations
,
January 2016 in “Australasian Journal of Dermatology” A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
6 citations
,
April 1985 in “Australasian journal of dermatology” The cause of the syndrome with scalp scaling and hair loss is unknown.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
March 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
19 citations
,
August 2020 in “Gastroenterology report” There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
October 2023 in “International Journal of Science and Research (IJSR)” Early diagnosis of GLPLS is crucial to prevent complications, but scarring alopecia is irreversible.
4 citations
,
March 2003 in “International Journal of Dermatology” Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
13 citations
,
June 2008 in “International Journal of Dermatology” Sorafenib can cause a unique skin reaction.
37 citations
,
March 1990 in “The Journal of Pediatrics” Toxic shock syndrome is caused by a complex interaction of bacterial toxins and the immune system, and understanding this can help improve diagnosis and treatment.
23 citations
,
September 2009 in “Child Abuse & Neglect” Checking family social conditions in tourniquet syndrome cases can help find neglect.
19 citations
,
October 1996 in “International Journal of Dermatology” Pseudopelade is a rare inherited hair loss condition with a genetic cause.
11 citations
,
January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
1 citations
,
October 2024 in “JCEM Case Reports” 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
July 2025 in “Journal of Cutaneous Pathology” Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
31 citations
,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
2 citations
,
January 1986 in “Dermatology” A woman with Kallman's syndrome also developed alopecia universalis, a condition not previously linked to Kallman's.
January 2020 in “International Journal of PharmTech Research” A man with severe leprosy developed painless ulcers and numbness, treated successfully with multiple drugs and vitamins.
9 citations
,
July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
67 citations
,
May 2019 in “British Journal of Dermatology” People with mycosis fungoides/Sézary syndrome have a much lower quality of life.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.