RESUMEN
BACKGROUND: Osteopoikilosis (OPK) is a rare inherited condition of the bones, transmitted as an autosomal dominant trait characterized by numerous hyperostotic areas that tend to localize in periarticular osseous regions. It is usually asymptomatic and is often diagnosed incidentally during x-rays made by other reasons. We present a case of 34-year-old man suffering from polyarthralgia and low back pain. CASE PRESENTATION: A 34-year-old male patient, smoking 40 packs yearly and alcoholic was referred to our department of rheumatology, complaining of polyarthralgia which started 3 years ago and involving large and small joints. He reported the presence of pelvic pain mostly located at both hip joints and in the two ankles. On radiologic examination, numerous, symmetric, well defined, sclerotic lesions were identified on shoulder, wrist, ankles, pelvis, and on spine. The size of the lesions varied from 2 to 9 millimeters. These spots were located on spongious bone tissue, and in the inner bone cortex located bilaterally in the epiphyses and metaphyses. We concluded the diagnosis of OPK. His mother was found to have the same lesions without any symptoms. CONCLUSION: OPK may be an isolated finding or associated with other pathologies, e.g. skin manifestations, rheumatic and/or skeletal disorders. The main differential diagnosis is osteoblastic metastasis.
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BACKGROUND: Currently, for the diagnosis of osteoporosis, we search risk factors and measure bone mineral density (BMD) by DXA method. However, bone turnover markers, unused still in practice, have shown an interest especially in the prediction of fracture risk. aim: To determine the relationship between bone markers, BMD and osteoporotic fracture. methods: Prospective study of 65 women referred for measure of BMD during the period between May and August 2010. Each patient had a dosage of serum bone formation markers: osteocalcin (OC) and N-terminal propeptide of type I collagen (P1NP) and bone resorption markers: serum and urinary C-terminal telopeptide of type I collagen (ß-CTX or CrossLaps) as well as parathyroid hormone and calcium. Risk factors of osteoporosis were identified in each case. results: Our 65 women had a mean age of 58.6 ± 12.1 years. The majority (83%) were menopausal women. Osteoporosis was found in 52%, osteopenia 26% and normal BMD 22% of cases. An increase in bone turnover markers was correlated with menopause (p = 0. 001 for the OC, p = 0.016 for urinary CTX), a low body mass index (p = 0.015 for OC, p = 0.042 for serum CTX) and osteoporosis (p <0.001 for P1NP, p <0.001 for serum and urinary CTX). Corticosteroid therapy was correlated with a decrease in bone formation markers (p = 0.002 for P1NP). The presence of fracture was only associated with increased urinary CTX (p = 0.05). CONCLUSION: Bone turnover markers increase in menopausal women and in case of low BMD. However, their contribution in the diagnosis of osteoporosis is low. They are rather an interest in the prediction of fracture risk.
Asunto(s)
Remodelación Ósea , Osteoporosis/sangre , Osteoporosis/diagnóstico , Fracturas Osteoporóticas/prevención & control , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores/sangre , Densidad Ósea , Enfermedades Óseas Metabólicas/diagnóstico , Calcio/sangre , Colágeno Tipo I/sangre , Colágeno Tipo I/orina , Femenino , Glucocorticoides/efectos adversos , Humanos , Incidencia , Persona de Mediana Edad , Osteocalcina/sangre , Osteoporosis/epidemiología , Osteoporosis Posmenopáusica/diagnóstico , Fracturas Osteoporóticas/sangre , Hormona Paratiroidea/sangre , Fragmentos de Péptidos/sangre , Péptidos/sangre , Péptidos/orina , Procolágeno/sangre , Estudios Prospectivos , Factores de Riesgo , Túnez/epidemiologíaRESUMEN
INTRODUCTION: Familial calcium pyrophosphate dihydrate deposition disease (CPDD) is uncommon, with about 50 affected families identified to date in the world. Genetic studies in familial CPDD are focusing on the ANKH gene. We report a new Tunisian kindred with CPDD. PATIENTS AND METHODS: The development of CPDD in a patient who was only 35 years of age prompted a family study. A medical history, physical examination, and radiographs were performed in 103 family members older than 18 years. RESULTS: Fifteen family members had CPDD. There were 10 men and five women, with a mean age of 59.4 years. Onset was usually in the third or fourth decade. Four clinical patterns were found: Five patients had pseudogout, five had pseudoosteoarthritis, three had asymptomatic disease, and two had pseudorheumatoid arthritis. Inheritance was autosomal dominant with low penetrance. No associations with specific HLA antigens were found. The disease was mild. These characteristics fit the description of Gaucher type 1 familial CPDD. CONCLUSION: Inherited autosomal dominant CPDD with low penetrance was found in 15 members of a Tunisian kindred. The disease was mild. We are planning a genetic study including tests for ANKH gene mutations in this kindred.