Caldas Amadeus Lima Rocha, Rodrigues Mecciene Mendes
Health College of Pernambuco, Institute of Integral Medicine, RecifePE, Brazil, MD - Degree in medicine from Health College of Pernambuco - Institute of Integral Medicine (Faculdade Pernambucana de Saúde - Instituto de Medicina Integral Professor Fernando Figueira - FPS-IMIP) - Recife (PE), Brazil.
Federal University of Pernambuco, MD, PhD in Tropical Medicine from the Federal University of Pernambuco (Universidade Federal de Pernambuco - UFPE). Dermatologist - Hospital Cancer Pernambuco (HCP). Researcher of the Institute of Medicine Professor Fernando Figueira - EP ( IMIP ) . Preceptor of the Dermatology Service of the Hospital Otavio de Freitas - HOF.
An Bras Dermatol. 2013 Nov-Dec;88(6):979-81. doi: 10.1590/abd1806-4841.20132844.
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.
德·桑克蒂斯-卡乔内综合征是最罕见、最严重的一种着色性干皮病，其特征为小头畸形、性腺功能减退、神经紊乱、智力和生长发育迟缓，仅有极少病例被报道。本文报告了一名1岁9个月大、先前诊断为着色性干皮病的患儿，其临床表现符合德·桑克蒂斯-卡乔内综合征，以及所采用的治疗方法。
