RESUMO
Reactive angioendotheliomatosis (RAE) is a diagnostically challenging condition characterized by multiple possible clinical presentations, which makes diagnosis challenging. We present a rare case of RAE mimicking cellulitis in a 74-year-old woman with a valvular disease and also end-stage renal disease, for which she was being treated with haemodialysis.
Assuntos
Celulite (Flegmão)/diagnóstico , Hemangioendotelioma/diagnóstico , Neoplasias Cutâneas/diagnóstico , Idoso , Diagnóstico Diferencial , Feminino , Doenças das Valvas Cardíacas/complicações , Humanos , Falência Renal Crônica/complicaçõesRESUMO
Chanarin-Dorfman syndrome (CDS) is an autosomal recessive metabolic disorder characterized by congenital ichthyosis and visceral complications due to accumulation of neutral lipids. CDS is caused by mutations in the ABHD5 (previously termed CGI-58) gene. In the present study, we assessed a young child presenting with ichthyosis and hepatomegaly, suggesting a diagnosis of CDS. We identified an intronic mutation, c.960 + 5G>A, which was found to result in skipping of exon 6. Abnormal results on liver function tests led us to treat the child with acitretin, which resulted in satisfactory clinical and laboratory responses. The present case illustrates the beneficial effect of acitretin treatment in CDS even in the presence of compromised liver function.
Assuntos
Acitretina/uso terapêutico , Eritrodermia Ictiosiforme Congênita/tratamento farmacológico , Ceratolíticos/uso terapêutico , Erros Inatos do Metabolismo Lipídico/tratamento farmacológico , Doenças Musculares/tratamento farmacológico , 1-Acilglicerol-3-Fosfato O-Aciltransferase/genética , Pré-Escolar , Feminino , Humanos , Eritrodermia Ictiosiforme Congênita/genética , Erros Inatos do Metabolismo Lipídico/genética , Doenças Musculares/genética , Resultado do TratamentoRESUMO
BACKGROUND: Erythrokeratoderma variabilis (EKV) is a rare disorder of cornification usually associated with dominant mutations in the genes GJB3 and GJB4, which code for connexin (Cx)31 and Cx30.3, respectively, and contribute to the formation of functional gap junctions in the epidermis. AIM: To identify the molecular basis of recessive EKV in a consanguineous family of Middle Eastern origin. METHODS: Direct sequencing and site-directed mutagenesis was used to search for the disease-causing mutation and identify its molecular consequences. RESULTS: A novel missense mutation (c.G88A) was found in the human GJB3 gene, resulting in substitution of the amino acid isoleucine for valine at position 30 (p.V30I). Under in vitro conditions, p.V30I prevents Cx31 reaching the cell membrane and taking part in gap-junction formation. CONCLUSIONS: Autosomal recessive inheritance should be considered when providing genetic counselling to consanguineous families at risk for EKV.
