RESUMEN
UNLABELLED: We described a Turkish girl with Chanarin-Dorfman syndrome who developed liver cirrhosis in the early infancy. She had all the clinical features of Chanarin-Dorfman syndrome such as ichthyosis, Jordan's anomaly, fatty liver disease and mild ectropion. The diagnosis was confirmed with a novel ABHD5 mutation. Liver steatosis or steatohepatitis with or without hepatomegaly is the predominant finding of Chanarin-Dorfman syndrome. Cirrhosis has been reported in patients with long-duration disease. CONCLUSION: Local factors or dysfunction of local proteins such as mutations or polymorphisms in hepatic microsomal lipase and arylacetamide deacetylase may contribute the severity of liver involvement, and steatosis may progress to cirrhosis in the early infancy in Chanarin-Dorfman syndrome.
Asunto(s)
1-Acilglicerol-3-Fosfato O-Aciltransferasa/genética , Sitios de Empalme de ARN/genética , Preescolar , Consanguinidad , Hígado Graso/etiología , Femenino , Humanos , Eritrodermia Ictiosiforme Congénita/diagnóstico , Eritrodermia Ictiosiforme Congénita/dietoterapia , Eritrodermia Ictiosiforme Congénita/genética , Errores Innatos del Metabolismo Lipídico/diagnóstico , Errores Innatos del Metabolismo Lipídico/dietoterapia , Errores Innatos del Metabolismo Lipídico/genética , Cirrosis Hepática , Enfermedades Musculares/diagnóstico , Enfermedades Musculares/dietoterapia , Enfermedades Musculares/genética , MutaciónRESUMEN
Two girls, sisters aged 4.5 years and 6 months, had experienced serious erythrodermia since birth, with scarcely any hair growth and they exhibited poor growth despite a hypoallergenic diet. On the basis of the dermatological condition ichthyosis linearis circumflexa and microscopic examination of a hair shaft in which trichorrhexis invaginata (bamboo hair) was observed, the diagnosis of Netherton's syndrome was established. In this autosomal recessive hereditary condition there is a defective production or maintenance of the stratum corneum. Apart from the skin and the hair abnormalities there is often an atopic constitution as well. The treatment consists of skin ointments and a high-energy diet due to the loss of protein via the skin.