Camurati-Engelmann disease is a rare bone disorder characterized by cortical thickening of the diaphysis of tubular bones, with sparing of the epiphysis. It has variable degrees of penetrance and expression, but may be very disabling for the affected individuals who manifest the painful symptoms. The authors report on two women with typical presentation of severe Camurati-Engelmann disease whose treatment with bisphosphonates failed to add any improvement beyond that elicited by corticosteroids alone.
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Sclerosing bone dysplasias: a pictorial essay.
Radiol Bras
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Universidade Federal de Juiz de Fora (UFJF), Juiz de Fora, MG, Brazil.
Sclerosing bone dysplasias encompass abnormalities in bone density, divided into hereditary and nonhereditary forms. Primarily diagnosed through radiography, they are often incidental findings. Among the hereditary forms, the following stand out: osteopetrosis, osteopoikilosis, multiple diaphyseal sclerosis (ribbing disease), osteopathia striata, and Camurati-Engelmann disease.
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Division of Neurosurgery, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California.
Background: Camurati-Engelmann disease (CED) is an extremely rare autosomal dominant genetic disorder that can cause increased intracranial pressure (ICP) secondary to cranial hyperostosis, which decreases intracranial volume. Surgical procedures to reduce ICP in medically refractory cases include intracranial volume expansion and ventriculoperitoneal shunting.
Observations: The authors present the case of a pediatric patient with CED and medically refractory increased ICP who underwent unilateral hemicraniectomy with titanium cranioplasty, resulting in a complete long-term resolution of symptoms.
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Camurati-Engelmann Disease (CED), or Progressive Diaphyseal Dysplasia, is a rare autosomal dominant disorder caused by heterozygous mutations in the Gene, essential for bone regeneration. This study examines the genotype-phenotype relationship in a family diagnosed with CED, specifically focusing on a missense variant (c.653G>A, p.
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Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
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