Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease): Clinical Supervision
A brief review of the literature on the etiology, pathogenesis, prevalence and clinical manifestations of rare congenital systemic disease of the skeleton, known as Camurati-Engelmann disease, is presented. Synonyms of the disease: congenital systemic hyperostosis, progressive diaphyseal dysplasia, generalized hyperostosis. Disorders or changes (mutations) in TGFB1 gene, as a part of chromosome 19 (19q13.1), underlie the disease. Bone lesions are characterized by a slow progression and polymorphism — from asymptomatic to distinct forms with pain syndrome, deformities of limb segments and joint contractures. This disease is characterized by lag in physical development, children gain weight poorly, there is hypogonadism. Treatment of the disease is mainly symptomatic — it is aimed at reduction of pain syndrome, correction of existing deformities. Prognosis is favorable, in terms of the lower extremities function — depends on the severity and course of the disease.
There is presented a clinical observation of Camurati-Engelmann disease in a boy aged 13 years, a resident of the Transcarpathian region. There are complaints about the permanent general weakness, fatigue, drowsiness, poor appetite, deformation of both lower legs and hips, pain in the legs when walking. The first manifestation of the disease — lower leg deformity — is detected at the age of 4–5 years. The general condition of the child is satisfactory. Asthenic body build, proportional, undernourished. The muscles of the trunk and limbs are underdeveloped. The posture is stooped. There is a modest antecurvation and varus deformity in the proximal femur, significant antecurvation of the lower legs. The gait is irregular, with a broad statement of the feet. The patient squats and gets up with great difficulty because of weakness and pain in the shins. On the femoral X-ray — varus deformity and antecurvation at diaphysis, irregular hyperostosis, mainly in the rear, lateral and medial walls. On the radiographs of both shin bones — curvature, mainly of tibia, angle wise, open posteriorly. Irregular hyperostosis in the diaphysis of both shinbones, especially in the area of the rear wall and the proximal diaphysis, in the anterior wall of the tibia, the non-uniform changes in the transverse dimension of the medullary canal. The findings of electrochemiluminescence study of the markers of bone metabolism indicate its disorder, apparently due to increased production of osteocalcin by osteoblasts.
Full Text:PDF (Русский)
Галятина Т.А. Особенности регуляции костного ремоделирования при врожденной патологии опорно-двигательного аппарата у детей / Т.А. Галятина, И.М. Устьянцева, О.И. Хохлова // Клиническая лабораторная диагностика. — 2014. — № 4. — С. 17-21.
Лагунова И.Г. Клинико-рентгенологическая диагностика дисплазий скелета / И.Г. Лагунова. — М.: Медицина, 1989. — 256 с.
A family with Camurati-Engelman disease. The role of the missense p.R218C mutation in TGFB1 in bones and endocrine glands / Toumba M., Neocleous V., Shammas C. et al. // J. Pediatr. Endocrinol. Metab. — 2013. — № 26(9–10). — Р. 987-993.
Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance / Baretić M., Korsić M., Potocki K. et al. // Coll. Antropol. — 2014. — № 38(2), Jun. — P. 755-758.
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment / Janssens K., Vanhoenacker F., Bonduelle M. et al. // J. Med. Genet. — 2006. — № 43. — P. 1-11.
Gupta S. Camurati-Engelmann disease in conjunction with hypogonadism / Gupta S., Cheikh I.E. // Endocrinol. Pract. — 2005. — № 11. — P. 399-407.
Intrafamilial phenotypic variability in Engelman disease (ED): are ED and Ribbing disease the same entity? / Makita Y., Nishimura G., Ikegawa S. et al. // Am. J. Med. Genet. — 2000. — № 91(2). — Р. 53-56.
Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review/ Wallace S.E., Lachman R.S., Mekikian P.B. et al. // Am. J. Med. Genet. — 2004. — № 129A. — P. 235-247.
Skull base manifestations of Camurati-Engelmann disease / Carlson M.L., Beatty C.W., Neff B.A. et al. // Arch. Otolaryngol. Head and Neck Surg. — 2010. — № 136. — P. 566-575.
Copyright (c) 2016 TRAUMA
This work is licensed under a Creative Commons Attribution 4.0 International License.
© Publishing House Zaslavsky, 1997-2018