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Chulalongkorn Medical Journal

Abstract

Introduction:

Pyle's disease, also known as familial metaphyseal dysplasia, is a rare autosomal recessive genetic disorder that primarily affects the skeletal system, particularly in children and adolescents. Characterized by distinctive radiographic features such as Erlenmeyer flask deformity and metaphyseal widening, Pyle's disease often goes underdiagnosed due to its mild clinical manifestations.

Case report:

This case report details a 15-year-old female patient presenting with retained milk teeth and unerupted permanent teeth, alongside notable skeletal abnormalities including genu valgum and kyphosis. Clinical and radiographic evaluations revealed significant dental anomalies, including multiple impacted permanent teeth and mild dysmorphic facial features. Although genetic testing was not performed in this case, the diagnosis of Pyle's disease was made based on clinical presentation and radiographic findings.

Conclusion:

This case underscores the importance of recognizing dental manifestations as potential indicators of underlying skeletal dysplasias or any other systemic condition, with reference to the case report published by Narayanan et al in 2006. Prompt diagnosis and early intervention could create a major impact on the quality of life and treatment outcomes in such cases.

DOI

10.56808/2673-060X.5665

First Page

INTRODUCTION: Pyle's disease, also known as familial metaphyseal dysplasia, is an exceedingly rare autosomal recessive genetic disorder that primarily affects the skeletal system, particularly in children and adolescents.[1] First described by Pyle in 1931, this condition is characterized by distinctive radiographic features, including Erlenmeyer flask deformity of the long bones and metaphyseal widening, which can lead to significant skeletal abnormalities.[2] Despite its potential for severe complications, Pyle's disease often presents with mild clinical symptoms, resulting in frequent underdiagnosis or misdiagnosis.[3] The disorder is commonly associated with consanguineous marriages, highlighting the importance of genetic factors in its etiology. Clinical manifestations may include skeletal deformities such as genu valgum, kyphosis, and mild dysmorphic facial features.[4] Dental anomalies are also frequently observed, including retained deciduous teeth and impacted permanent teeth, which can serve as critical indicators for clinicians to suspect underlying skeletal dysplasias.[5] This case report presents a 15-year-old female patient with notable dental and skeletal abnormalities that ultimately led to the diagnosis of Pyle's disease. Informed consent was obtained from the patient to include clinical images in the manuscript. By documenting this case, we aim to emphasize the importance of recognizing dental manifestations as potential signs of rare genetic disorders and to enhance awareness among healthcare professionals regarding the implications of such conditions on overall patient management. Our case adds further clinical evidence to this observation, reinforcing the importance of dental imaging as a diagnostic tool. Pyle’s disease is a very rarely occurring genetic disorder affecting younger children and adolescent group. Only a few case reports (Table 1) have been recorded so far.[6] It usually presents with very mild clinical symptoms and goes underdiagnosed most of the time. It is also called ‘familial metaphyseal dysplasia’ and has distinct radiographic features with gross metaphyseal undermining usually involving the long bones and sometimes, cranium.[1] CASE REPORT: A 15-year-old female came to the Department of Oral medicine and Radiology with a chief complaint of retained milk teeth in left side and unerupted permanent teeth for more than 10

Last Page

Raad MS, Beighton P. Autosomal recessive inheritance of metaphyseal dysplasia. Clin Genet 1978;14:251–6. https://doi.org/10.1111/j.1399-0004.1978.tb02142.x. [22] Sena J, Nóbrega J. Rare case of Pyle’s metaphyseal dysplasia presenting in an adult. Int J Case Reports Images 2020;11:1. https://doi.org/10.5348/101088Z01JS2020CR.

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