RESUMO
Therapeutic options are limited in cases of autosomal recessive congenital ichthyosis with inadequate response to topical agents. Acitretin is the current standard of care in these patients, but its use is limited by cumulative toxicity when prolonged therapy is needed in children. There is evidence to suggest that high doses of vitamin D can normalize keratinization and suppress inflammatory cytokines. Here, we report a patient with lamellar ichthyosis with a novel mutation in the Nipa-like Domain-Containing 4 (NIPAL4) gene. High dose short-term vitamin D therapy was administered with a dramatic and sustained clinical response.
Assuntos
Ictiose Lamelar , Neoplasias Cutâneas , Criança , Humanos , Ictiose Lamelar/tratamento farmacológico , Ictiose Lamelar/genética , Vitamina D/uso terapêutico , Acitretina/uso terapêuticoRESUMO
Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessive disorder of impaired triacylglycerol catabolism leading to cytoplasmic deposition of triglycerides in various cell types. We describe the case of an 8-month-old boy with cataracts, strabismus, motor delays, and an ichthyosiform rash since birth. Genetic testing revealed a pathogenic variant of the ABHD5 gene, suggestive of CDS, and further workup demonstrated hepatic steatosis and myopathy. His ichthyosis improved with initiation of a diet low in very long-chain fatty acids and medium-chain fatty acid supplementation.
Assuntos
Catarata , Eritrodermia Ictiosiforme Congênita , Ictiose Lamelar , Ictiose , Erros Inatos do Metabolismo Lipídico , Doenças Musculares , Masculino , Humanos , Lactente , Eritrodermia Ictiosiforme Congênita/diagnóstico , Eritrodermia Ictiosiforme Congênita/genética , Ictiose Lamelar/diagnóstico , Ictiose Lamelar/genética , Ictiose/diagnóstico , Ictiose/genética , Doenças Musculares/diagnóstico , Doenças Musculares/genética , Doenças Musculares/patologia , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/genética , Erros Inatos do Metabolismo Lipídico/patologia , Catarata/diagnóstico , 1-Acilglicerol-3-Fosfato O-Aciltransferase/genéticaAssuntos
Ictiose Lamelar/genética , Raquitismo/genética , Transglutaminases/genética , Adolescente , Cálcio/administração & dosagem , Códon sem Sentido , Suplementos Nutricionais , Efeito Fundador , Humanos , Ictiose Lamelar/complicações , Ictiose Lamelar/diagnóstico , Masculino , Raquitismo/diagnóstico , Raquitismo/terapia , Luz Solar , Tunísia , Vitamina D/administração & dosagemRESUMO
Harlequin ichthyosis (HI) is the most severe and devastating form of the autosomal recessive congenital ichthyoses (ARCIs). Mutations in the ABCA12 gene result in disruption of intercellular lipid deposition in the stratum corneum and a major skin barrier defect. Patients present at birth, often premature, with cutaneous thick, yellow, hyperkeratotic plates with deep erythematous fissures, causing a typical facial appearance. Harlequin ichthyosis has often been considered to be fatal, and management tends to be palliative, but follow-up of 45 affected infants has shown that with good neonatal care and early introduction of oral retinoids, survival rates are improving. Because ABCA12 mutations have been identified, known carriers are able to undergo preventative preimplantation and prenatal genetic testing. Experimental studies have shown recovery of lipid secretion in lamellar granules using corrective gene therapy. Further research is needed to develop alternative therapies to retinoids in HI.