RESUMO
Osteopoikilosis is a benign osteosclerotic dysplasia of unknown origin, which is an inherited autosomal disorder. It is usually asymptomatic and may only be recognized on radiological examination. We report a 20-year-old man who suffers from back and shoulder pain during the routine physical examinations performed prior to the military recruitment. Numerous symmetric, small, ovoid and circular sclerotic bone lesions were found on the X-rays of the spine and shoulder. Dual energy X-ray absorptiometry (DXA) examination revealed osteopenia. In conclusion, typical radiographic examination of osteopoikilosis is usually diagnostic. However, it may sometimes be difficult to rule out the other diseases like osteoblastic metastatic lesions as it is an uncommon disease. Physicians should be aware of possible coexisiting osteopenia or osteoporosis as reported in our case.
Assuntos
Doenças Ósseas Metabólicas/diagnóstico , Osteopecilose/diagnóstico , Absorciometria de Fóton , Adulto , Doenças Ósseas Metabólicas/epidemiologia , Comorbidade , Humanos , Masculino , Osteopecilose/epidemiologia , Pelve/diagnóstico por imagem , Ombro/diagnóstico por imagemRESUMO
A retrospective study was carried out of the ten cases of osteopoikilosis seen at this Orthopedic Unit over a 15-year period in order to determine the reasons why patients seek consultation, preliminary diagnosis, and associated lesions. Eight patients consulted for problems not related to the locomotor apparatus, and diagnosis was by chance; the other two presented joint pain. The preliminary diagnosis was osteoblastic metastasis in five patients and osteopoikilosis in the other five. None of the patients displayed skin or visceral involvement, but three presented bone alterations. Definitive diagnosis was made by measurement of biochemical markers of bone remodeling, radiography of both hands, and bone scan. Bone biopsy was performed in one case. Although rare, the radiographic symptoms of osteopoikilosis are sufficiently specific to avoid false diagnoses, which may give rise to rigorous and expensive studies for other important disorders.
Assuntos
Osteopecilose/diagnóstico por imagem , Adulto , Idoso , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Osteopecilose/epidemiologia , Aceitação pelo Paciente de Cuidados de Saúde , Radiografia , Estudos Retrospectivos , Espanha/epidemiologiaRESUMO
Osteopoikilosis is a rare condition showing characteristic sclerotic lesions on radiographic examination, which are diagnostic for the trait. We report four patients presenting with various complaints and 49 members of their families who later were found to have osteopoikilosis. The mean age of all 53 was 27.5 years and the male:female ratio was 33:20. Most had lesions in the small tubular bones. We studied the epidemiological, clinical and radiological features of these patients and from the pedigrees conclude that the disease is inherited as an autosomal dominant.
