Genetische Arthropathien und Skelettdysplasien: Differenzialdiagnosen bei schmerzhaften und kontrakten Gelenken

Zusammenfassung

In der differenzialdiagnostischen Abklärung von Arthralgien und/oder Arthropathien bei Kindern und Jugendlichen sind auch einige z. T. sehr seltene monogenetische Erkrankungen in Betracht zu ziehen. Zunächst autoinflammatorische Erkrankungen wie das Cryopyrin assoziierte periodische Syndrom (CAPS), die pyogene Arthritis mit Pyoderma gangränosum und Akne (PAPA-Syndrom) und die Infantile Sarkoidose (Blau Syndrom); darüber hinaus genetisch bedingte Veränderungen in Regulations- und Strukturgenen des Bindegewebes wie die Progressive Pseudorheumatische Arthropathie des Kindesalters (PPAC), das Camptodaktylie-Arthropathie-Coxa vara-Perikarditis-(CACP) – Syndrom, die Multizentrische Carpotarsale Osteolyse (MCTO), die Spondyloenchondrodysplasie (SPENCD) und das Camurati-Engelmann Syndrom (CAEND). Die Vorliegende Übersicht im Rahmen des Schwerpunktheftes gibt einen Überblick über diese seltenen Erkrankungen.

Abstract

The diagnostic workup of arthralgia and/or arthropathy in children and adolescents includes the differential diagnosis of some very rare diseases with monogenetic inheritance. The first group to be considered includes autoinflammatory diseases such as the cryopyrin-associated periodic syndrome (CAPS), pyogenic arthritis with pyoderma gangraenosum and acne (PAPA syndrome) and infantile sarcoidosis (Blau syndrome). Moreover, there are mutations in genes responsible for regulatory and/or structural elements of connective tissue like progressive pseudorheumatic arthropathy of childhood (PPAC), the camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, multicentric carpotarsal osteolysis (MCTO), spondyloenchondrodysplasia (SPENCD) and the Camurati-Engelmann syndrome (CAEND). This review, which is part of a special issue focussing on rare genetic diseases involving the joints, gives an overview of these rare diseases.

Schlüsselwörter

Hereditäre Arthropathie - JIA - CAPS - CINCA - PAPA - Blau-Syndrom - PPAC - CACP - MCTO - SPENCD - CAEND

Key words

hereditary arthropathy - JIA - CAPS - CINCA - PAPA - blau-syndrome - PPAC - CACP - MCTO - SPENCD - CAEND

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