Autosomal recessive hereditary disorder
Hereditary diffuse palmoplantar keratoderma
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Palmoplantar keratoderma Nagashima type (disorder)
Palmoplantar keratoderma Nagashima type
This disease is a non-syndromic diffuse palmoplantar keratoderma resembling a mild form of mal de Meleda. So far, it has been described in 20 individuals.Transmission is autosomal recessive. Evidence suggests this disease is caused by homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.
palmoplantaire keratodermie type Nagashima
palmoplantaire hyperkeratose type Nagashima
PPK type Nagashima
Id722205008
StatusPrimitive
Associated morphologyHyperkeratosis
Finding siteEntire skin of palmar area of hand
Associated morphologyHyperkeratosis
Finding siteEntire skin of sole of foot
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8
CorrelationSNOMED CT source code to target map code correlation not specified