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Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes.
Takeichi, Takuya; Hamada, Takahiro; Yamamoto, Mayuko; Ito, Yasutoshi; Kawaguchi, Aya; Kobashi, Haruka; Yoshikawa, Takenori; Koga, Hiroshi; Ishii, Norito; Nakama, Takekuni; Muro, Yoshinao; Ogi, Tomoo; Akiyama, Masashi.
Afiliación
  • Takeichi T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Hamada T; Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.
  • Yamamoto M; Department of Dermatology, Kochi Medical School, Kochi University, Nankoku, Japan.
  • Ito Y; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Kawaguchi A; Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.
  • Kobashi H; Department of Dermatology, Kochi Medical School, Kochi University, Nankoku, Japan.
  • Yoshikawa T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Koga H; Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.
  • Ishii N; Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
  • Nakama T; Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.
  • Muro Y; Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
  • Ogi T; Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.
  • Akiyama M; Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
J Dermatol ; 51(1): 101-105, 2024 Jan.
Article en En | MEDLINE | ID: mdl-37752865
Pathogenic variants in ABCA12 are important causative genetic defects for autosomal recessive congenital ichthyoses (ARCI), which include congenital ichthyosiform erythroderma (CIE), harlequin ichthyosis, and lamellar ichthyosis. In addition, pathogenic variants in ABCA12 are known to cause a localized nevoid form of CIE due to recessive mosaicism. We previously reported siblings who carried an ABCA12 variant but did not show a "congenital" phenotype. They were considered to have pityriasis rubra pilaris (PRP). Here, we present a further patient with ABCA12 variants whose phenotype was not congenital ichthyosis, in an independent family. Notably, these three patients had geographic unaffected areas. Such areas are not usually found in patients with ARCI who have ABCA12 variants, suggesting mild phenotypes for these patients. Interestingly, the histological features of the ichthyotic lesions in these patients resembled those of PRP. All three patients had homozygous pathogenic missense variants in ABCA12. Our findings expand the phenotypic spectrum of patients with ABCA12 variants.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pitiriasis Rubra Pilaris / Eritrodermia Ictiosiforme Congénita / Ictiosis Lamelar / Ictiosis Límite: Humans Idioma: En Revista: J Dermatol Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pitiriasis Rubra Pilaris / Eritrodermia Ictiosiforme Congénita / Ictiosis Lamelar / Ictiosis Límite: Humans Idioma: En Revista: J Dermatol Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido