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Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Int+J+Womens+Dermatol 2015 ; 1 (3): 136-9 Nephropedia Template TP
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De Sanctis?Cacchione syndrome: A case report and literature review? #MMPMID28491977
Rahbar Z; Naraghi M
Int J Womens Dermatol 2015[Aug]; 1 (3): 136-9 PMID28491977show ga
De Sanctis?Cacchione (DSC) syndrome is one of the rarest, most severe forms of xeroderma pigmentosum (XP). These patients with XP are of short stature, have mental disabilities, and develop progressive neurologic degeneration because of a severe inability to repair damaged DNA. Herein, we will present the case of a 9-year-old boy who had DSC syndrome with microcephaly, severe psychomotor retardation, ataxia, and hearing loss. The cutaneous manifestations included giant squamous cell carcinoma (SCC) that covered the eye, multiple facial SCCs, and pigment changes on sun-exposed areas. In addition, we include a review of reported rare cases and a brief discussion of disease management.