Boletín médico del Hospital Infantil de México
versão impressa ISSN 1665-1146
MORALES MARTINEZ, André et al. Dermatologic manifestations of Alagille syndrome. Bol. Med. Hosp. Infant. Mex. [online]. 2012, vol.69, n.2, pp. 139-143. ISSN 1665-1146.
Alagille syndrome (MIM #118450) causes the majority of cases of congenital cholestasis. It is an autosomal dominant multisystem disorder associated with several different clinical manifestations including the core criteria of cholestasis, cardiac defects, skeletal abnormalities, and eye and facial features. This condition is caused by mutations in the JAG 1 gene on chromosome 20p12. It is known a second form of Alagille syndrome that is caused by mutations in the NOTCH gene on 1p13-p11 (MIM #610205). Diagnosis is often delayed because only few patients show a classical picture in the early stages of the disease, causing an increase in morbidity. This review suggests clinical tools for early suspicion and management.
Palavras-chave : Alagille syndrome; cholestasis; cutaneous manifestations.