A Genetic Study in a Patient with Incontinentia Pigmenti / 대한피부과학회지
Korean Journal of Dermatology
;
: 164-168, 2011.
Artigo
em Coreano
| WPRIM
| ID: wpr-16198
ABSTRACT
Incontinentia pigmenti (IP) is a rare X-linked dominant, multisystem genodermatosis that affects ectoderm-derived structures. Its cutaneous manifestations are usually subdivided into the vesicular, verrucous, hyperpigmented, and hypopigmented or atrophic stages. IP can also affect other ectoderm-derived structures, such as, hair, nails, teeth, eyes, and the central nervous and musculoskeletal systems. About 80% of IP patients have genomic deletions of exons 4~10 of the NEMO (NF-kappaB-Essential MOdulator) gene, also known as the IKKgamma (gamma-subunit of the inhibitor kappaB kinase), which is essential for the activation of the NF-kappaB pathway. The female infant presented in this case report was born to healthy non-consanguineous parents and showed vesiculopustular eruptions with a NEMO gene rearrangement. No IP case has been previously reported to be related to a NEMO gene mutation in South Korea. In other words, this is the first report to confirm the relation between IP and mutation of the NEMO gene in Koreans.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pais
/
Dente
/
Incontinência Pigmentar
/
Rearranjo Gênico
/
Éxons
/
NF-kappa B
/
Olho
/
República da Coreia
/
Cabelo
/
Sistema Musculoesquelético
Limite:
Feminino
/
Humanos
/
Lactente
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
Korean Journal of Dermatology
Ano de publicação:
2011
Tipo de documento:
Artigo
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