April 2025 in “Dermatology Practical & Conceptual” Biopsy is crucial to accurately distinguish Erosive Pustular Dermatosis of the Scalp from Squamous Cell Carcinoma.
12 citations
,
May 2009 in “Ophthalmic plastic and reconstructive surgery” Multiple pilomatrixoma may indicate Turner syndrome.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
5 citations
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August 2014 in “Archivos Argentinos de Pediatria” A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
12 citations
,
June 2016 in “Clinical and experimental dermatology” A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
31 citations
,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
59 citations
,
November 2002 in “Pediatric Dermatology” A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
7 citations
,
January 2016 in “Case reports in pediatrics” A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
3 citations
,
September 2022 in “European Journal of Dermatology”
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
12 citations
,
November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
September 2007 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
26 citations
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September 2009 in “Psychosomatics” A girl initially thought to have a psychiatric disorder was later found to have a lupus-related condition, which improved with proper treatment.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” A CCS patient with severe complications was successfully treated using combined therapies.
8 citations
,
January 2019 in “JAAD Case Reports” EPDS can cause recurring scalp sores and hair loss if not treated.
December 2013 in “International Journal of Dermatology” The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
2 citations
,
July 2022 in “Dermatology Reports” EPDS and MS might share an immune-related cause.
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.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
March 2021 in “Revista da Associação Médica Brasileira” 6 citations
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December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
2 citations
,
August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
3 citations
,
April 2019 in “Journal of the Endocrine Society” Satoyoshi syndrome can occur without causing premature ovarian failure.
6 citations
,
June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
18 citations
,
June 2014 in “Anais Brasileiros de Dermatologia” Clouston Syndrome can be linked to rare sweat gland tumors.
June 2020 in “Journal of genetic medicine” The document's conclusion cannot be provided because the document is not accessible or understandable.