A Rare Case of Pediatric Xanthoma Disseminatum With Diabetes Insipidus and BRAF p.V600E Mutation.
Am J Dermatopathol
; 44(4): 287-290, 2022 Apr 01.
Article
em En
| MEDLINE
| ID: mdl-34966053
ABSTRACT
ABSTRACT Xanthoma disseminatum (XD) is a rare non-Langerhans cell histiocytosis characterized by xanthomatous lesions in the absence of hyperlipidemia. XD usually develops in young adults, and there are rare cases among children. BRAF mutations are frequent in Langerhans cell histiocytosis and Erdheim-Chester disease but absent or only rarely detected in other histiocytosis. Herein, we described a 6-year-old Chinese girl presented with generalized skin lesions and diabetes insipidus for 5 months. There were multiple periorbital xanthelasma with histopathological features of foamy histiocytes infiltration with Touton cells. Pituitary magnetic resonance imaging showed pituitary enlargement and pituitary stalk thickening. The presence of BRAF p.V600E mutation makes this case distinctive and also offers a potential therapeutic target. According to our review of the literature, this is the first pediatric XD with diabetes insipidus and BRAF mutation.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Histiocitose de Células não Langerhans
/
Predisposição Genética para Doença
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Diabetes Insípido
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Am J Dermatopathol
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
China