keratoderma palmoplantaris punctata type 1 (aandoening)
keratoderma palmoplantaris punctata type 1
keratoderma palmoplantaris papulosa type 1
puntvormige hyperkeratose van handpalm of voetzool type 1
puntvormige palmoplantaire keratodermie type 1
syndroom van Buschke-Fischer-Brauer
Punctate palmoplantar keratoderma type 1
Buschke Fischer Brauer syndrome
Keratodermia palmoplantaris papulosa Buschke Fischer Brauer type
A very rare hereditary skin disease with manifestation of irregularly distributed epidermal hyperkeratosis of the palms and soles. Reported in 35 families worldwide to date. The lesions usually start to develop in early adolescence but can also present later in life. Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes. Mutations in the COL14A1 gene (8q23) have also been identified as causal in some cases in Asia that seem to have a similar phenotype
Associated morphologyhyperkeratose
Finding sitestructuur van huid van voetzool
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde congenitale misvormingen van huid
SNOMED CT to Orphanet simple map79501
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q82.8
CorrelationSNOMED CT source code to target map code correlation not specified