4 citations
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August 2018 in “Journal of pediatric neurology” This article reviews Becker's nevus syndrome, covering its symptoms, causes, and cosmetic treatment options, without presenting new clinical findings.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.
4 citations
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December 2020 in “Dermatologic Therapy” This study reports a case of Ellis van Creveld syndrome in a 40-year-old Iranian woman, highlighting uncommon features such as pectus excavatum, Phrygian cap gallbladder, liver hemangioma, polycystic ovarian disease, and breast fibrocystic cysts.
2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” This case report identified a 4-month-old boy with Menkes disease, a neurodegenerative disorder of copper metabolism, noting symptoms like recurrent seizures, developmental delay, and specific physical characteristics, confirmed by genetic sequencing showing a pathogenic ATP7A mutation and low serum copper and ceruloplasmin levels.
7 citations
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January 2016 in “Case reports in pediatrics” This study reports that antiandrogen medication, specifically 50 mg/day of spironolactone, showed an adequate clinical response in treating breast hypoplasia associated with Becker's nevus syndrome.