TY - JOUR T1 - Painful Lower Extremities Related to Diaphyseal Dysplasia: Genetic Diagnosis and Treatment JF - The Journal of Rheumatology JO - J Rheumatol SP - 1848 LP - 1850 DO - 10.3899/jrheum.090087 VL - 36 IS - 8 AU - SANDRA LÚCIA EUZÉBIO RIBEIRO AU - ERILANE LEITE GUEDES AU - VÂNIA MESQUITA GADELHA PRAZERES AU - ERNANI JÚNIOR GUEDES de FREITAS AU - ARTUR da ROCHA CORRÊA FERNANDES Y1 - 2009/08/01 UR - http://www.jrheum.org/content/36/8/1848.abstract N2 - To the Editor:Camurati-Engelmann disease (CED) is an autosomal-dominant condition, initially described by Cockayne in 19201. Camurati was the first to suggest the hereditary component in 1922, when he reported a rare symmetrical osteitis of lower limbs in a father and son and several others in a total of 4 generations2. Later, Engelmann reported a case with muscular wasting and important bone involvement3. The disease begins in an age span between 3 months and 50 years old, with higher prevalence in males. It is characterized by progressive cortical expansion, sclerosis, and symmetrical hyperostosis affecting the diaphyses of the long bones4,5. We describe a case of CED in a female patient with lower limb pain with progressive worsening and difficult diagnosis.A 37-year-old woman from Manaus, Brazil, was referred for investigation of a 5-year history of fatigue, headache, and pain in both legs, worsening over the preceding year, that had not responded to a variety of analgesics. The initial investigation included the following: normal blood count, erythrocyte sedimentation rate 15 mm/h (ESR; normal 0 to 20); rheumatoid factor 47 II/ml (normal 10 IU/ml), C-reactive protein 10.3 mg/dl (normal < 8 mg/dl), a negative antinuclear factor, alkaline phosphatase 111 U/l (normal 38–126 U/l); serum calcium was 8.7 mg/dl (normal 8.4–10.6), ionized calcium 1.42 (normal 1.2–1.6), urinary calcium 421 mg/24 h (normal 200), inorganic phosphorus 2.8 mg/dl (normal 2.5–4.5), parathyroid hormone 62 pg/ml (normal 7–53); and negative Bence-Jones proteins and normal urinary sediment.Radiographs of both lower limbs showed cortical thickening at the diaphyses, the medium third of the tibias, and … Address reprint requests to Dr. S.L.E. Ribeiro, Avenida Apurinã 04, Bairro Praça 14, Manaus, Amazonas State, Brazil 69020-170. E-mail: sandraeuzebio{at}vivax.com.br ER -