A case with Trico-rhino-phalangeal syndrome type 1 case with a preliminary diagnosis of Juvenile rheumatoid arthritis
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Çiğdem Aliosmanoğlu 1 * , Zehra Şule Haskaloğlu, Ömer Cevit
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1 Dicle Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Diyarbakır, Turkey* Corresponding Author

Abstract

Thrico-rhino-falangeal syndrome is a rare disease characterized by a bulbous nose, sparse hairs, a long flat philtrum, and epiphyseal coning. We describe here in a 15 year old girl with Thrico-rhino-falangeal syndrome type 1 (TRPS I). Physical examination demonstrated bulbous nose, hair abnormalities, deformity of the phalanges and winged scapulae. Genetic study and radiologic findings confirmed the diagnosis. Thrico-rhino-falangeal syndrome is characterized by musculoskeletal deformities that at the first view may simulate juvenile idiopathic arthritis. These musculoskeletal deformities could imply the differential diagnosis with juvenile idiopathic arthritis.

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Case Report

J Clin Exp Invest, Volume 2, Issue 4, December 2011, 441-442

https://doi.org/10.5799/ahinjs.01.2011.04.0090

Publication date: 12 Dec 2011

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