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Case Report
Polyarthralgia revealing a trichorhinophalangeal syndrome: A case report and review of the literature
1 Children’s hospital, Mohamed V University, Rabat, Morocco
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Lamiae Bouimetarhan
Children’s hospital, Mohamed V University,
Morocco
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Article ID: 101012Z01CR2019
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Bouimetarhan L, Ayouche O, Dafiri R. Polyarthralgia revealing a trichorhinophalangeal syndrome: A case report and review of the literature. Int J Case Rep Images 2019;10:101012Z01CR2019.ABSTRACT
Introduction: Trichorhinophalangeal dysplasia (TRPS) or Langer-Giedion syndrome is a rare genetic disease belonging to the acrodysplasia group. It is an autosomal dominant disorder, characterized by hair growth, nose and phalanges anomalies. Its prevalence is unknown. This syndrome is due to chromosomal microdeletion of variable size in the region 8 q24.12 resulting in the loss of at least two genes: TRPS1 and EXT1. Individuals with TRPS type 1 have a long range of orthopedic problems ranging from hyper laxity to osteochondritis that develop in adolescence but may be occur in infancy resulting in limited mobility and psychological impact. The diagnosis of this dysplasia is based primarily on clinical and radiological features which allows radiology to be the management cornerstone of this syndrome.
Case Report: A 13-year-old girl with polyarthralgia was diagnosed with this syndrome. The genomic study and radiological assessment were in favor of the diagnosis. A medical treatment was administered with a favorable evolution. There were no sign of articular degeneration in the follow up examination.
Conclusion: Management of Langer-Giedion syndrome must start with genetic counseling to establish an early diagnosis in order to preserve the functional prognosis. The favorable evolution under medical treatment makes it possible to avoid further surgery in patients with TRPS by proposing a simple radiological monitoring.
Keywords: Polyarthralgia, Radiography, Trichorhinopharyngeal dysplasia, Thymic hyperplasia
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Author Contributions
Lamiae Bouimetarhan - Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Ayouche Othman - Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Rachida Dafiri - Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this case report.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Open Access StatementAll relevant data are within the paper and its Supporting Information files.
Copyright© 2019 Lamiae Bouimetarhan et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
