Osteopoikilosis and the Buschke–Ollendorff syndrome

Abstract

Osteopoikilosis is an uncommon cause of multiple osteosclerotic bone lesions. The skeletal changes of osteopoikilosis (synonyms: osteopathia condensans disseminata, spotted bone) were first described by Stieda in 1905 and subsequently by Albers-Schoenberg (1915). Radiologically, the lesions consist of multiple wellcircumscribed round or oval opacities, each 1–10 mm in diameter. The mottling is more marked in the epiphyses and metaphyses of the long bones and the pelvis, but is also common in the spongiosa of the phalanges, carpal and tarsal bones. The changes are more common in men than women and usually present in adulthood, although osteopoikilosis has been reported in children. Familial aggregation has been described, and autosomal dominant inheritance with variable expression is proposed (Schoenenberg, 1975). Osteopoikilosis should be considered in the differential diagnosis of multiple osteosclerotic bone lesions, but is a relatively uncommon finding. Serowy (1956) could find only 100 reported cases in the literature over a 25-year period since its initial description, and Jonasch (1955) found only 12 cases of osteopoikilosis in a series of 21000 radiographs.

Connective tissue nevi in children: Institutional experience and review

“…BOS is autosomal dominant, occurring in 1:20,000 individuals for whom elastoma and collagenoma can be found in association with osteopoikilosis. [44][45][46][47][48][49][50][51][52][53] A loss-of-function mutation in the LEMD3 gene (also called MAN1), has been implicated in most cases and can cause melorheostosis. [50][51][52] Two different cutaneous findings have been described in BOS.…”

Osteopoikilosis: Pain as a Presenting Symptom in Three Family Members

“…Increased localized bone metabolism at the location of the lesion, irritation of joint capsule attachment by sclerotic areas and increased intraosseous pressure due to venous stasis at the areas of lesion could produce joint pain 7. In nearly 25% of patients, OPK is associated with Buschke—Ollendrof Syndrom 8. However, we could not find any dermatologic conditions as those in Buschke—Ollendrof Syndrome in our patient or her family members.…”

Buschke-ollendorff syndrome in a grande multipara: A case report and short review of the literature

“…Involvement of the phalanges, carpal and tarsal bones is also common. Ribs, skull and vertebrae are rarely involved, a feature that helps to distinguish the syndrome from other conditions, some of which are of a serious nature [3,[5][6][7]. Histologically, these lesions represent numerous bony islands and do not predispose to pathological fractures.…”