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 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.
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.
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.
36 citations
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January 2012 in “International Journal of Trichology” Losing eyelashes or eyebrows can be a sign of many different health problems and needs a careful approach to treat effectively.
The document is a detailed guide on skin conditions and treatments for dermatologists.