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Cartilage–hair hypoplasia: a spectrum of clinical and radiological findings

Publication: LymphoSign Journal
25 June 2015

Abstract

Introduction: Cartilage–hair hypoplasia (CHH) is a rare skeletal dysplasia that presents with various degrees of immunodeficiency, short stature, and a susceptibility to malignancies. Individuals with CHH can present with severe combined immunodeficiency or combined immunodeficiency and are at risk for severe and unusual infections irrespective of their laboratory findings. In addition, individuals with CHH can present with variable skeletal abnormalities, mainly involving the metaphysis of long bones. CHH is a rare disease and familiarity with the variable features is crucial for diagnosis.
Methods: We report the clinical, radiological, and genetic findings for 5 patients with proven diagnoses of CHH.
Results: In this study we describe a cohort of patients with CHH and present their clinical findings and progressions. In addition, we present the radiological images and the immunological investigations that were done in these patients. Although all the patients in our cohort had poor cellular immunity, they had a variable clinical course. Three out of 5 patients received a bone marrow transplant (BMT) and 2 out of 5 died at an early age (1 after BMT). Those who had poor humoral function had a worse prognosis compared with those with good humoral function. The skeletal findings were characteristic for CHH.
Conclusion: CHH is a disease with a variable presentation. Clinicians should be aware of the characteristic skeletal and immunological findings to identify the disease as early as possible.
Statement of novelty: We present novel clinical and radiological findings in patients with variable RMRP gene mutations.

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Information & Authors

Information

Published In

cover image LymphoSign Journal
LymphoSign Journal
Volume 2Number 3September 2015
Pages: 157 - 164

History

Received: 2 June 2015
Accepted: 22 June 2015
Accepted manuscript online: 25 June 2015

Authors

Affiliations

Yoram Faitelson
Division of Immunology and Allergy, The Hospital for Sick Children, The University of Toronto, Toronto, ON, Canada
David Manson
Department of Diagnostic Imaging, The Hospital for Sick Children, The University of Toronto, Toronto, ON, Canada

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