Chirurgische Therapie der Zapfenepiphysen an den proximalen Interphalangealgelenken beim Tricho-Rhino-Phalangealen Syndrom (TRPS) Typ I: Eine Familenübersicht anhand von drei Generationen

 

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Zuammenfassung

6 von 14 Familieneangehörigen innerhalb von 3 Generationen boten den klassischen Phänotypus des Tricho-Rhino-Phalangealen Syndroms Typ I: Bulböse Nase, hohes Philtrum, Hypotrichose, vorzeitige Alopezie, Zapfenepiphysen an den proximalen Interphalanagealgelenken mit konsekutiver Ulnardeviation, dysostotische Füße, Perthes-artige Hüftdysplasie mit beeindruckender Bindegewebslaxizität von zahlreichen Gelenken und Hyposomie. Die Körpergröße entsprach der 50. Perzentille. Im Röntgenbild und bei der 3D-CT-Rekonstruktion der Hände zeigten sich asymmetrische Brachymetakarpie, Brachymesophalangie sowie schmerzhafte Invaginationen in die Mittelgliedbasen (Typ 12 nach Giedion), in absteigender Folge von Zeige- bis Ringfinger. Aufgrund der schmerzhaften Zapfenepiphysen mit ulnarer Achsabweichung sämtlicher Langfingermittelgelenke erfolgten die Resektionsarthrodesen mittels Zuggurtungsosteosynthesen. 48 Monate nach der Arthrodese waren die Finger zentriert und schmerzfrei. Opposition, Grob- sowie Spitzgriff waren uneingeschränkt möglich. Anlässlich der Genanalyse boten sämtliche Familienmitglieder die phänotypischen Merkmale eines Tricho-Rhino-Phalangealen Syndroms Typ I. Alle zeigten auch identische Nonsens-Mutation (C → T). Letzte war im Exon 4 in der Position 1831 lokalisiert. Phänotypisch nicht betroffene Familienmitglieder boten auch keine Mutationsveränderungen.

Abstract

Report on 6 individuals, occurring in three successive generations of a single family, who were affected by “classical” tricho-rhino-phalangeal syndrome type I. Besides pear-shaped noses, enlarged philtrum, hypotrichosis, premature alopecia, coned epiphysis at the proximal interphaleangeal joints with consecutive ulnar deviation of the long fingers, dysostotic feet, Perthes-like hip dysplasia with multilocated joint laxity and hyposomia were impressing. Height was 168 cm, corresponding to the 50^th percentile. Radiographs and 3D-reconstruction of both hands showed asymmetrical brachymetacarpia, brachymesophalangia and painful invaginations of the middle phalanx bases (type 12 according to Giedion). Angular deformities are seen predominantly in the index finger decreasing to the ring finger. Painful cone-shaped epiphyses with ulnar dislocation of the PIP joints were stabilized following resection arthrodesis with tension band osteosynthesis. At reexamination 48 months postoperatively a painfree and powerful pinch grip function of both hands was restored. All family members who showed the phenotypical features of TRPS type I revealed in genetic analysis also identical mutations. Inside the exon 4 in position 1831 there was a nonsens mutation C → T. Non-afflicted relatives did not show this mutation.

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Prof. Dr. Peter Brenner

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