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Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.
Harjama, L; Karvonen, V; Kettunen, K; Elomaa, O; Einarsdottir, E; Heikkilä, H; Kivirikko, S; Ellonen, P; Saarela, J; Ranki, A; Kere, J; Hannula-Jouppi, K.
Afiliación
  • Harjama L; Department of Dermatology and Allergology, ERN-Skin center, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
  • Karvonen V; Department of Dermatology and Allergology, ERN-Skin center, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
  • Kettunen K; HUS Diagnostic Center, Laboratory of Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Elomaa O; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
  • Einarsdottir E; Folkhälsan Research Center and Research Programs Unit, Stem Cells and Metabolism Research Program, University of Helsinki, Helsinki, Finland.
  • Heikkilä H; Folkhälsan Research Center and Research Programs Unit, Stem Cells and Metabolism Research Program, University of Helsinki, Helsinki, Finland.
  • Kivirikko S; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden.
  • Ellonen P; Science for Life Laboratory, Department of Gene Technology, KTH-Royal Institute of Technology, Solna, Sweden.
  • Saarela J; Department of Dermatology and Allergology, ERN-Skin center, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
  • Ranki A; Department of Clinical Genetics and Department of Medical and Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Kere J; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
  • Hannula-Jouppi K; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
J Eur Acad Dermatol Venereol ; 35(9): 1874-1880, 2021 Sep.
Article en En | MEDLINE | ID: mdl-33914963
BACKGROUND: Hereditary palmoplantar keratodermas (PPK) represent a heterogeneous group of rare skin disorders with epidermal hyperkeratosis of the palms and soles, with occasional additional manifestations in other tissues. Mutations in at least 69 genes have been implicated in PPK, but further novel candidate genes and mutations are still to be found. OBJECTIVES: To identify mutations underlying PPK in a cohort of 64 patients. METHODS: DNA of 48 patients was analysed on a custom-designed in-house panel for 35 PPK genes, and 16 patients were investigated by a diagnostic genetic laboratory either by whole-exome sequencing, gene panels or targeted single-gene sequencing. RESULTS: Of the 64 PPK patients, 32 had diffuse (50%), 19 focal (30%) and 13 punctate (20%) PPK. None had striate PPK. Pathogenic mutations in altogether five genes were identified in 31 of 64 (48%) patients, the majority (22/31) with diffuse PPK. Of them, 11 had a mutation in AQP5, five in SERPINB7, four in KRT9 and two in SLURP1. AAGAB mutations were found in nine punctate PPK patients. New mutations were identified in KRT9 and AAGAB. No pathogenic mutations were detected in focal PPK. Variants of uncertain significance (VUS) in PPK-associated and other genes were observed in 21 patients that might explain their PPK. No suggestive pathogenic variants were found for 12 patients. CONCLUSIONS: Diffuse PPK was the most common (50%) and striate PPK was not observed. We identified pathogenic mutations in 48% of our PPK patients, mainly in five genes: AQP5, AAGAB, KRT9, SERPINB7 and SLURP1.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Queratodermia Palmar y Plantar Difusa / Serpinas / Queratodermia Palmoplantar Límite: Humans Idioma: En Revista: J Eur Acad Dermatol Venereol Asunto de la revista: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Año: 2021 Tipo del documento: Article País de afiliación: Finlandia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Queratodermia Palmar y Plantar Difusa / Serpinas / Queratodermia Palmoplantar Límite: Humans Idioma: En Revista: J Eur Acad Dermatol Venereol Asunto de la revista: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Año: 2021 Tipo del documento: Article País de afiliación: Finlandia Pais de publicación: Reino Unido