Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.
Acta Derm Venereol
; 94(6): 707-10, 2014 Nov.
Article
en En
| MEDLINE
| ID: mdl-24604124
ABSTRACT
Palmoplantar keratoderma of the Gamborg-Nielsen type (PPK-GN) is a rare autosomal recessive skin disorder described in patients from Sweden. Mal de Meleda (MDM) is also a rare autosomal recessive inherited PPK first reported in 5 families from the island of Meleda. The 2 conditions phenotypically overlap and are characterised by palmoplantar erythematous hyperkeratotic plaques. The genetic background giving rise to PPK-GN has hitherto been unknown, whereas MDM is known to be caused by mutations in the gene encoding secreted Ly-6/uPAR-related protein 1, SLURP-1. In the present study we scrutinised individuals affected by PPK-GN for mutations in the SLURP1 gene and identified 2 different mutations. Fourteen Swedish patients were homozygous for a previously described mutation, c.43T>C, while one individual was a compound heterozygote with one copy of a novel mutation, c.280T>A, in addition to one copy of the c.43T>C mutation. Hereby we confirm that PPK-GN is an allelic variant of MDM.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Activador de Plasminógeno de Tipo Uroquinasa
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Antígenos Ly
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Queratodermia Palmoplantar
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Mutación
Tipo de estudio:
Diagnostic_studies
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Prognostic_studies
Límite:
Adult
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Child, preschool
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Female
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Humans
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Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Acta Derm Venereol
Año:
2014
Tipo del documento:
Article
País de afiliación:
Suecia