Two peculiar types of enchondromatosis

Abstract

On the basis of 3 personal observations and of 6 cases from the literature, two peculiar types of enchondromatosis are delineated: 1. Enchondromatosis with generalized, irregular vertebral lesions, and 2. Generalized enchondromatosis with mild platyspondyly.

Spondyloenchondrodysplasia: A rare cause of short-trunk syndrome

“…Enchondromatosis is usually sporadic, though its occurrence in siblings has been reported (McKusick 1971). In the last few years, several cases were reported in which enchondromatous-like lesions involved both the long bones and the spine, and an autosomal recessive mode of inheritance has been suggested (Mainzer et al 1971, Schorr et al 1976, Spranger et al 1978, Sauvegrain et al 1980, Chagnon et al 1985, Azouz 1987, Menger et al 1989, Ziv et al 1989, Frydman et al 1990. Although the prevalence of spondyloenchondrodysplasia is unknown, it is striking that approximately 40 percent of all the cases reported occurred in Israel (Schorr et al 1976, Menger et al 1989, Ziv et al 1989, Frydman et al 1990), whose population is about 0.1 percent of the total world population.…”

“…Moreover, a single patient, examined repeatedly during a long-term follow-up may show involvement of different skeletal sites. Thus, overly differentiated divisions into subtypes, as suggested in the literature, do not seem to be warranted (Mainzer et al 1971, Spranger et al 1978, Azouz 1987. The disorder does not seem to affect life expectancy, neither in the cases described by us nor in those described in the literature.…”

“…During the last two decades, several cases have been described in which symmetric enchondromatous-like lesions involving both the axial and the appendicular skeleton predominate. This entity has been named Schorr's type spondyloenchondrodysplasia (Mainzer et al 1071, Schorr et al 1976, Spranger et al 1978, Sauvegrain et al 1980, Chagnon et al 1985, Azouz 1987. We had the opportunity to study a pedigree in which 2 persons were afflicted with the disorder.…”

Fortuitous enchondroma of hand in a traumatic fracture: a case report of Ollier’s disease

“…5 Spranger et al classified enchondromatosis based on radiographic appearance, anatomical site and mode of inheritance into 6 sub types (Table 1). 6 Ollier disease must be differentiated from multiple hereditary exostosis and Mafucci syndrome. Osteochondroma are located on bony surface as compared to Ollier disease associated with lesions in the center of the bone.…”

Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C

“…Its radiographic features include irregularly distributed, mostly discrete enchondromas of long tubular bones and generalized severe platyspondyly with mild or no involvement of hands and feet [Schorr et al, 1976;Halal and Azouz, 1991]. Generalized enchondromatosis, with patients having platyspondyly and metaphyseal manifestations of enchondromatosis with severe involvement of the hands and feet, has also been described [Spranger et al, 1978;Halal and Azouz, 1991].…”