De Sanctis-Cacchione Syndrome in a female infant - Case report

Anais Brasileiros de Dermatologia

Amadeus Lima Rocha Caldas¹  Mecciene Mendes Rodrigues¹ 

关键词: DNA repair;    DNA Repair-Deficiency Disorders;    Xeroderma pigmentosum;    Xeroderma pigmentosum group A protein;    Distúrbios no reparo do DNA;    Proteína de xeroderma pigmentoso grupo A;    Reparo do DNA;    Xeroderma pigmentoso;   

DOI  :  10.1590/abd1806-4841.20132844

来源: SciELO

【 摘 要 】

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 diagnosis of xeroderma pigmentosum, are reported.

【 授权许可】

CC BY-NC   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License