Osteopoikilosis, Isolated

Last update 01 Nov 2024

Basic Info

Synonyms

Isolated osteopoikilosis, Isolated osteopoikilosis (disorder), OSTEOPOIKILOSIS, ISOLATED

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Introduction

A rare primary bone dysplasia with characteristics of multiple small round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal and tarsal bones. The condition is usually clinically silent and discovered only incidentally although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal.

100 Clinical Results associated with Osteopoikilosis, Isolated

100 Translational Medicine associated with Osteopoikilosis, Isolated

0 Patents (Medical) associated with Osteopoikilosis, Isolated

Literatures (Medical) associated with Osteopoikilosis, Isolated

01 Jun 2009·Clinical GeneticsQ2 · MEDICINE

Novel and recurrent germline LEMD3 mutations causing Buschke–Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis

Q2 · MEDICINE

Article

Author: G Ferranti ; Y Zhang ; M Castori ; BP Wordsworth ; M Paradisi

Mutations in the LEMD3 gene were recently incriminated in Buschke–Ollendorff syndrome (BOS) and osteopoikilosis, with or without melorheostosis. The relationship of this gene with isolated sporadic melorheostosis is less clear. We investigated LEMD3 in a two‐generation BOS family showing an extremely variable expression of the disease, in a sporadic patient with skin features of BOS, and in an additional subject with isolated melorheostosis. We identified two different mutations, both resulting in a premature stop codon, in the two cases of BOS. The mutation (c.2564G>A) reported in the familial case is novel, while that observed in the sporadic case (c.1963C>T) has been previously reported in an American woman with osteopoikilosis and melorheostosis who had a family history of isolated osteopoikilosis. The search for mutations in DNA extracted from the peripheral blood, as well as skin and bone biopsies of the patient with melorheostosis failed to identify any pathogenic change. Our results further expand the LEMD3 mutation repertoire, corroborate the extreme interfamilial and intrafamilial clinical variability of LEMD3 mutations, and underline the lack of a clear phenotype–genotype correlation in BOS. The present study supports the general conclusion that LEMD3 mutations do not contribute to isolated sporadic melorheostosis. The genetic or epigenetic influences that are responsible for the development of melorheostosis require further investigation.

03 Oct 1997·American Journal of Medical Genetics

Melorheostosis in a patient with familial osteopoikilosis

Article

Author: Virginia V. Michels ; William P. Cooney ; Christine E. Butkus ; Noralane M. Lindor

We report on a 40-year-old woman with melorheostosis who also had radiographic findings of generalized osteopoikilosis. Three of her sibs have osteopoikilosis, but none of them have melorheostosis. Several cases of "mixed sclerosing bone dysplasia" have been described previously, and all have been sporadic. Isolated melorheostosis without osteopoikilosis is also generally a sporadic condition, but osteopoikilosis has been described as an autosomal-dominant trait. The finding of mixed sclerosing bone dysplasia in a family with osteopoikilosis suggests that the melorheostotic component of this disorder may be due to a second mutation at the same locus that causes isolated familial osteopoikilosis.

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Osteopoikilosis, Isolated

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