RESUMEN
Dyskeratosis congenital is reported in two siblings. They presented with the classic triad of mucocutaneous features: leukoplakia of the tongue, dystrophic nails, and a widespread reticulate pigmentation on the neck and upper chest. A genetic analysis was performed and a new missense mutation S356P, hemizygous, was identified in the DKC1 gene in both patients. Acitretin was started at a low-dose in both patients, resulting in clinical improvement and important, positive psychosocial effects.
Asunto(s)
Proteínas de Ciclo Celular/genética , Disqueratosis Congénita/genética , Mutación Missense , Proteínas Nucleares/genética , Acitretina/uso terapéutico , Adolescente , Niño , Disqueratosis Congénita/tratamiento farmacológico , Femenino , Humanos , Queratolíticos/uso terapéutico , Masculino , HermanosRESUMEN
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive lamellar ichthyosis due to transglutaminase-1 (TGase-1) gene mutations leading to a temperature sensitive phenotype. It is characterized by dark-grey or brownish scaling restricted to the 'bathing suit' areas, whereas the extremities and central face are almost completely spared. We report a 2-year-old African girl with BSI with ultrastructural and biochemical demonstration of TGase-1 deficiency over the affected skin. TGase-1 gene analysis disclosed the homozygous p.R315L mutation, which may lead to a temperature sensitive dysfunction of the enzyme.
Asunto(s)
Ictiosis Lamelar/genética , Población Negra , Femenino , Homocigoto , Humanos , Ictiosis Lamelar/patología , Lactante , Mutación , Fenotipo , Temperatura , Transglutaminasas/deficiencia , Transglutaminasas/genéticaRESUMEN
We describe a 7-year-old boy with dermatitis herpetiformis (DH) diagnosed on clinical and histologic evidence, negative direct immunofluorescence (DIF) findings for junctional IgA deposits in uninvolved skin, positive IgA endomysial and gliadin antibodies, and jejunal biopsy revealing a gluten-sensitive enteropathy. Treatment with dapsone led to the disappearance of cutaneous lesions and pruritus within 48 hours. Demonstration of IgA immune deposits in the dermal papillae has been the only acceptable criterion for the diagnosis of dermatitis herpetiformis. However, considering several reports in the literature of DH with a negative DIF and our own case, we believe that in the absence of the characteristic DIF pattern, one needs the combination of clinical, histologic, and immunologic data to support the diagnosis of DH. We also discuss recent developments in the diagnosis of DH.