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Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism.
Asahina, Yasuhiko; Tahara, Umi; Aoki, Satomi; Nakabayashi, Kazuhiko; Tateishi, Chiharu; Hayashi, Daisuke; Amagai, Masayuki; Tsuruta, Daisuke; Kubo, Akiharu.
Afiliación
  • Asahina Y; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
  • Tahara U; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
  • Aoki S; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
  • Nakabayashi K; Department of Maternal-Fetal Biology, National Center for Child Health and Development, Tokyo, Japan.
  • Tateishi C; Department of Dermatology, Osaka Metropolitan University, Medical School, Osaka, Japan.
  • Hayashi D; Department of Dermatology, Osaka Metropolitan University, Medical School, Osaka, Japan.
  • Amagai M; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
  • Tsuruta D; Department of Dermatology, Osaka Metropolitan University, Medical School, Osaka, Japan.
  • Kubo A; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan. akiharu@med.kobe-u.ac.jp.
Eur J Hum Genet ; 31(6): 716-720, 2023 06.
Article en En | MEDLINE | ID: mdl-36922631
ABSTRACT
A prenatal second-hit genetic change that occurs on the wild-type allele in an embryo with a congenital pathogenic variant allele results in mosaicism of monoallelic and biallelic defect of the gene, which is called superimposed mosaicism. Superimposed mosaicism of Hailey-Hailey disease (HHD) has been demonstrated in one familial case. Here, we report two unrelated HHD cases with superimposed mosaicism a congenital monoallelic pathogenic variant of ATP2C1, followed by a postzygotic copy-neutral loss of heterozygosity. Uniquely, neither patient had a family history of HHD at the time of presentation. In the first case, the congenital pathogenic variant had occurred de novo. In the second case, the father had the pathogenic variant but had not yet developed skin symptoms. Our cases showed that superimposed mosaicism in HHD can lack a family history and that genetic analysis is crucial to classify the type of mosaicism and evaluate the risk of familial occurrence.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pénfigo Familiar Benigno Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Japón

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pénfigo Familiar Benigno Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Japón
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