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 diagnosis of xeroderma pigmentosum, are reported.
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.
Amadeus Lima Rocha
AL
Caldas
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.
Mecciene Mendes
MM
Rodrigues
D004392:Dwarfism / Q000473:pathology* / Q000628:therapy; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000473:pathology* / Q000628:therapy; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology* / Q000628:therapy; D011379:Prognosis; D035583:Rare Diseases / Q000473:pathology* / Q000628:therapy; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000473:pathology* / Q000628:therapy; D014983:Xeroderma Pigmentosum / Q000473:pathology* / Q000628:therapy