Osteopoikilosis - a case report

Abstract

Osteopoikilosis (OPK) is a very rare and primarily benign autosomal dominant disorder of unknown etiology. Genetic studies showed heterozygous mutations of the LEMD3 gene. It is characterised by the occurrence of hyperostotic spots throughout the skeleton, with the most frequent localizations in the epiphyses and metaphyses of long bones, as well as in the carpal and tarsal bones. The clinical features of osteopoikilosis are poorly represented; consequently the condition is usually diagnosed incidentally on radiological examination or due to the association with other medical disorders (articular pain, fractures, joint dislocations, etc.). We report a case of osteopoikilosis in a 44 year-old man who presented with left hip joint pain and low back pain irradiated in left leg. Radiographs showed typical features of osteopoikilosis. Necessary investigations were done to exclude osteoblastic metastasis. The patient was treated with drugs and physiotherapy with significant improvement of the symptoms.

A 65-year-old Patient with Osteopoikilosis and Bilateral Pleural Effusion. Case Report

“…The most common differential diagnosis and the one most important to be excluded is osteoblastic metastatic disease. Nevertheless, the following differential diagnoses should be considered: osteopathia striata, tuberous sclerosis, Paget's disease, hyperparathyroidism, mastocytosis, enostosis, osteoma and osteoporosis [10,11]. The coexistence of these diseases may make the correct diagnosis even more complicated.…”