pachydermoperiostosesyndroom (aandoening)
Pachydermoperiostosis syndrome
Touraine-Solente-Gole syndrome
Primary hypertrophic osteoarthropathy
Touraine-Solente-Golé syndrome
A form of primary hypertrophic osteoarthropathy, a rare hereditary disorder with characteristics of digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes. The disease typically begins during childhood or adolescence and may stabilize after 5-20 years of progression, or progress constantly. Mutations in the HPGD gene (4q33-q34) have been identified. The gene encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), the main enzyme of prostaglandin degradation. Inherited as an autosomal recessive trait.
Associated morphologyhypertrofie
Finding sitestructuur van huid
Associated morphologyclubbing
Finding sitestructuur van nagel
Associated morphologyinflammatoire morfologie
Finding sitestructuur van periosteum
Finding sitebotstructuur
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige vormen van hypertrofische osteoartropathie van lokalisatie niet gespecificeerd
SNOMED CT to Orphanet simple map2796
SNOMED CT to ICD-10 extended map
AdviceALWAYS M89.49
CorrelationSNOMED CT source code to target map code correlation not specified