De Sanctis–Cacchione syndrome: A case report and literature review☆
نویسندگان
چکیده
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.
منابع مشابه
De Sanctis-Cacchione Syndrome in a female infant - Case report*
The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and the therapeutic approach used to treat a one year and nine months old child, with previous diagnosi...
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