Autosomal hereditary disorder
Congenital palmoplantar keratoderma
Congenital woolly hair Congenital wooly hair
Developmental hereditary disorder
Ectodermal dysplasia
Hereditary diffuse palmoplantar keratoderma
Inherited disorder of keratinization
Rough skin of hands
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Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder)
Skin fragility, wooly hair, palmoplantar keratoderma syndrome
A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24.
syndroom van huidfragiliteit, wollig haar en palmoplantaire keratodermie
Id778010006
StatusPrimitive
Associated morphologyDysplasia
Finding siteEctoderm structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyHyperkeratosis
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteHair shaft structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationAbnormal
InterpretsKeratinization
Associated morphologyHyperkeratosis
Finding siteEntire skin of sole of foot
Associated morphologyHyperkeratosis
Finding siteEntire skin of palmar area of hand
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ84.1
RuleTRUE
AdviceALWAYS Q84.1
CorrelationSNOMED CT source code to target map code correlation not specified