RESUMO
Harlequin ichthyosis (HI) is the most severe form of autosomal-recessive, congenital ichthyosis. Affected infants have markedly impaired barrier function and are more susceptible to infection. Abnormalities in the localization of epidermal lipids as well as abnormal lamellar granule formation are features of HI skin. Previously, we and others have shown that mutations in the ABCA12 gene encoding an adenosine triphosphate-binding cassette (ABC) transporter underlie the skin disease HI. In this study, we have sequenced the ABCA12 gene in an additional 14 patients and show that all contain mutations, with the majority being either nonsense substitution or frameshift mutations. Eleven HI patients had bi-allelic ABCA12 mutations, whereas in the remaining three HI patients in this study, ABCA12 mutations were detected on only one allele by sequencing. In addition, the one patient from the previous study where no sequence mutations were detected was screened for heterozygous deletions. A combination of oligonucleotide arrays, multiplex PCR analysis and single-nucleotide polymorphism genotyping revealed a heterozygous intragenic deletion in exon 8. These mutation data establish ABCA12 as the major HI gene.
Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Ictiose Lamelar/genética , Códon sem Sentido , Análise Mutacional de DNA , Éxons/genética , Feminino , Mutação da Fase de Leitura , Humanos , Masculino , Mutação , Análise de Sequência com Séries de Oligonucleotídeos , Reação em Cadeia da Polimerase , Polimorfismo de Nucleotídeo Único , Deleção de SequênciaRESUMO
Juvenile xanthogranuloma is an uncommon, benign histiocytic condition, primarily affecting children less than 1 year of age. Although usually only cutaneous lesions are found, systemic manifestations of the disease have been reported. We present a child with juvenile xanthogranuloma of the right cheek associated with contralateral cervical lymph node histiocytic infiltration.
Assuntos
Doenças Linfáticas/patologia , Xantogranuloma Juvenil/diagnóstico , Histiócitos/patologia , Humanos , Recém-Nascido , Doenças Linfáticas/etiologia , Masculino , Xantogranuloma Juvenil/complicaçõesRESUMO
Although port wine stains are seen in 0.3% births, widespread cutaneous capillary malformations are unusual and an association with static gliosis has not been previously reported. This is a report of a 3-year-old boy with a fixed widespread capillary naevus (port wine stain), megalencephaly and global developmental, and features of gliosis on brain magnetic resonance imaging (MRI).