Pyle metaphyseal dysplasia in an African child: Case report and review of the literature

Abstract

Pyle disease (OMIM 265900), also known as metaphyseal dysplasia, is a rare autosomal recessive disorder with no known gene mutation. We report a case of Pyle disease in a 7-year-old African boy of mixed ancestry who presented with finger and wrist fractures following minor trauma. The radiological findings revealed abnormally broad metaphyses of the tubular bones, known as Erlenmeyer-flask bone deformity, and mild cranial sclerosis, both hallmarks of the condition. We report the first case in a patient with African ancestry, which could help in the gene discovery of this rare autosomal recessive skeletal dysplasia with unknown mutations.

Pyle disease (metaphyseal dysplasia) presenting in two adult sisters

“…Radiographic spinal examination may reveal moderate platyspondyly and a biconcave lens shape of the vertebral bodies [5]. The skull analysis sometimes exhibits mild patchy basal and cranial vault sclerosis, as well as poor pneumatization or even obliteration of the paranasal sinuses [1], [2]. In our patients, such imaging findings were all present, except for spinal changes.…”

“…Until the 1980s, there were only 20 cases described in the literature, including countries like the USA, France, Germany, South Africa, India, and Italy [6], with fewer than 30 genuine cases reported to date [2]. The mutation involved is still unknown [1], [2], with a lack of comprehensive genetic studies on the subject.…”

“…Pyle's metaphyseal dysplasia is a rare genetic skeletal disorder of benign course, inherited in an autosomal recessive pattern, whose causal genetic mutation is still unknown [1], [2]. Edwin Pyle, an American orthopedic surgeon, first reported the disease in 1931, describing bone deformities involving the skull and limbs of a 5-year-old child [3], [4].…”

Rare case of Pyle’s metaphyseal dysplasia presenting in an adult

“…Pyle's metaphyseal dysplasia (PMD) is an extremely uncommon and rare genetic skeletal disorder, with fewer than 30 cases reported worldwide, characterized by a benign course of irregular development of long bones, and an autosomal recessive genetic pattern of inheritance [1][2][3]. This disease was named after the American orthopedic surgeon, Edwin Pyle, who first reported the disease in 1931.…”

Pyle’s Disease

“…whether it is familial, autosomal recessive or because of consanguinity. 4,5 Its casual genetic mutation is still unknown, probably caused by mutations in SFRP4 (secreted Frizzled Related Protein 4) gene. This gene provides instructions for making a protein that blocks a process called WNT signalling, which is involved in the development of several tissues and organs throughout the body.…”