TLDR Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
A case of congenital poikiloderma, specifically Rothmund-Thomson's type, was presented, characterized primarily by skin changes and hair loss, with only minor additional abnormalities. The patient exhibited a slightly elevated concentration of lysine and cystine in their urine.
7 citations
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July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
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July 2011 in “Survey of Ophthalmology” The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
12 citations
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June 2016 in “Reviews in Endocrine and Metabolic Disorders” Some skin diseases and their treatments can negatively affect male fertility.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.