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Sydney S. Gellis, MD; Murray Feingold, MD; R. N. Srivastava, RCP (Ed); Shafiga Azamy, MD; M. H. Ziayee, MD; M. K. Bhan, MD
Am J Dis Child. 1978;132(6):619-620. doi:10.1001/archpedi.1978.02120310083018.
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Denoument and Discussion 

Rothmund-Thomson Syndrome (Poikeloderma Congenital) 

Manifestations  This rare disorder is characterized by distinctive cutaneous abnormalities. Maculopapular, erythematous lesions with patches of hypopigmentation usually over the cheeks first appear at the age of 3 to 6 months. Subsequently, they are observed over the rest of the face, dorsum of hands and gluteal regions, forearms, and legs. Photosensitivity may be present. In advanced stages, telangiectases, brownish hyperpigmentation, and reticular, depigmented patches of skin atrophy are seen. Keratoses may develop on exposed skin after several years and squamous cell carcinoma may occur in the keratoses or neighboring skin.Bilateral cataracts are present in approximately 50% to 75% of the patients. They usually appear by age 7 years and may be anterior, subcapsular, perinuclear, or posterior stellate.Other features of the syndrome include premature senile appearance, bird-like facies, diminished scalp hair, hypogonadism, short stature, small hands and feet, and hypoplastic thumbms. Mental


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