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

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.

Immunodeficiency in cartilage‐hair hypoplasia: Pathogenesis, clinical course and management

“…HSCT can also correct the immune dysregulation, such as autoimmunity or inflammatory skin lesions 41,48 . Also, in patients with primary immunodeficiency disorders, HSCT decreases the risk of malignancies, which is an important consideration in CHH 69 …”

Clinical genetic characteristics of metaphyseal chondrodysplasia, McKusick type (cartilage-hair hypoplasia) in children caused by mutations in the RMRP gene: authors’ observations and literature review

“…в 2009 г. и Y. Faitelson и соавт. в 2015 г., показали наличие значимого клинического полиморфизма (в том числе внутрисемейного) у больных с мажорной мутацией 71A>G в гомозиготном состоянии [24,25]. Это позволило им сделать заключение о возможном влиянии генетического фона и эпигенетических моди-Рис.…”

Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients

“…Radiologically, it is observed short, splayed, and irregular metaphysis, especially at the knee regions. Although metaphyseal changes are the most expressive radiological feature, other radiological findings include short and thick tubular bones, short metacarpals and phalanges with cone-shaped epiphysis, curved femora, lumbar lordosis, and scoliosis 9 . Variations in the clinical phenotype inter-patients and even intra-families can be remarkable 10 .…”