October 2023 in “Pediatric blood & cancer” Thymic LCH may be underdiagnosed, so thymic ultrasound should be considered in infants with cutaneous LCH.
1 citations
,
March 2022 in “Frontiers in Medicine” Regular endoscopic checks are crucial for Cronkhite-Canada syndrome patients to catch potential cancers early.
14 citations
,
March 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Patients with severe alopecia areata have higher levels of MIF, which decrease after successful treatment.
23 citations
,
December 2008 in “Pediatric neurology” The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
1 citations
,
January 2015 in “Journal of clinical case reports” KFSD causes scarring hair loss and skin roughness, mainly in males.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that a key immune pathway protecting hair follicles is reduced in a mouse model of scarring hair loss.
2 citations
,
January 2014 in “Indian Journal of Critical Care Medicine” Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.
21 citations
,
January 2013 in “Clinical Endoscopy” First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
16 citations
,
January 2005 in “Pediatric Dermatology” A 10-year-old girl with Fox Fordyce disease improved with treatment, suggesting the disease can occur before puberty and might be underdiagnosed in young girls.
22 citations
,
June 2010 in “Experimental Dermatology” Lower MC2R expression may contribute to alopecia areata.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
July 2024 in “Journal of Investigative Dermatology” CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss in Discoid Lupus.
1 citations
,
July 2023 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
15 citations
,
July 1975 in “British journal of dermatology/British journal of dermatology, Supplement” Graham-Little syndrome causes scarring hair loss and skin bumps.
20 citations
,
April 2000 in “Experimental dermatology” ODC transgenic mice can model human hair loss with skin lesions.
July 2003 in “British Journal of Dermatology” Some skin conditions are associated with other serious diseases, and office microscopy may miss many fungal infections.
August 2025 in “The Nishinihon Journal of Dermatology” Prednisolone treatment improved symptoms and hair regrowth in a patient with Cronkhite-Canada Syndrome.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
13 citations
,
June 2011 in “PubMed” The patient improved significantly after treatment, with only one small scar remaining.
14 citations
,
June 2024 in “Clinical Reviews in Allergy & Immunology” People with Down syndrome have a higher risk of autoimmune diseases, so early detection and care are important.
32 citations
,
July 2001 in “Journal of the American Academy of Dermatology” SLHA can be hard to diagnose and needs teamwork between specialists.
2 citations
,
June 2020 in “Dermatology and therapy” Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
May 2015 in “Endocrinología y nutrición” The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.