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De Sanctis-Cacchione Syndrome in a female infant - Case report / Sindrome de De Sanctis-Cacchione em lactente do sexo feminino - Relato de caso
Caldas, Amadeus Lima Rocha; Rodrigues, Mecciene Mendes.
  • Caldas, Amadeus Lima Rocha; Health College of Pernambuco. Institute of Integral Medicine. Recife. BR
  • Rodrigues, Mecciene Mendes; Health College of Pernambuco. Institute of Integral Medicine. Recife. BR
An. bras. dermatol ; 88(6): 979-981, Nov-Dec/2013. graf
Article in English | LILACS | ID: lil-698984
ABSTRACT
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.
RESUMO
A síndrome de de Sanctis-Cacchione é a forma mais rara e grave do xeroderma pigmentoso e é caracterizada por microcefalia, hipogonadismo, alterações neurológicas e retardo mental e de crescimento, com poucos casos publicados. Relatam-se os achados clínicos compatíveis com essa síndrome e a terapêutica instituída em uma lactente de um ano e nove meses, com diagnóstico prévio de xeroderma pigmentoso.
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Full text: Available Index: LILACS (Americas) Main subject: Skin Neoplasms / Xeroderma Pigmentosum / Rare Diseases / Dwarfism / Hypogonadism / Intellectual Disability Type of study: Prognostic study Limits: Female / Humans / Infant Language: English Journal: An. bras. dermatol Journal subject: Dermatology Year: 2013 Type: Article Affiliation country: Brazil Institution/Affiliation country: Health College of Pernambuco/BR

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Full text: Available Index: LILACS (Americas) Main subject: Skin Neoplasms / Xeroderma Pigmentosum / Rare Diseases / Dwarfism / Hypogonadism / Intellectual Disability Type of study: Prognostic study Limits: Female / Humans / Infant Language: English Journal: An. bras. dermatol Journal subject: Dermatology Year: 2013 Type: Article Affiliation country: Brazil Institution/Affiliation country: Health College of Pernambuco/BR