Results We present a right cemented Charnley total hip replacement for osteoarthritis in a 55 year old patient with Engelmann’s disease. [epos.myesr.org]

Later in life, severely affected individuals may present facial abnormalities such as frontal bossing and enlarged mandible, as well as facial paralysis. [orpha.net]

Patients were classified into three groups according to the mode of initial presentation to medical service. We categorized the patients into three groups according to the mode of presentation. [synapse.koreamed.org]

We describe the first Indian CED family with genetic confirmation and presenting manifestations. The proband is a 17-year-old woman who presented with lower limb pain and proximal muscle weakness. [semanticscholar.org]

The nature of symptoms, when present, is usually progressive and requires an active therapeutic approach. [thejns.org]

• Gagging

  […] intracranial volume loss combined with elevated ICP.18,19,81,82 All 5 patients experienced severe headaches and vision changes, 4 had progressive imbalance,18,19,81 and 2 experienced dysphagia.18 There has been only 1 report of dysphagia and diminished gag [jamanetwork.com]

• Heart Failure

  However, the extra-osseous manifestations of Erdheim-Chester disease (diabetes insipidus, painless bilateral exophthalmos, chronic renal failure, hydronephrosis, pulmonary fibrosis, and heart failure) and associated bone infarcts44 Ihde LL, Forrester [scielo.br]

• Absent Nails

  nails Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Camurati-Engelmann disease (CED), the initial evaluation should include the following if they have not already been [ncbi.nlm.nih.gov]

• Hearing Impairment

  Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound. [rarediseases.oscar.ncsu.edu]

  Hearing impairment in Engelmann disease. Am J Otol 1996;17:26–9. [21]. Wright M, Miller NR, McFadzean RM, et al. Papilloedema, a complication of progressive diaphyseal dysplasia: a series of three case reports. Br J Ophthalmol 1998;82:1042–8. [22]. [journals.lww.com]

  Hearing impairment, tinnitus and vertigo are expected complications given the extensive sclerosis of the petrous segment of the temporal bones with narrowing of the internal auditory canals. [clinical-medicine.panafrican-med-journal.com]

  impairment Deafness Hearing defect [ more ] 0000365 Hepatomegaly Enlarged liver 0002240 Hyperlordosis Prominent swayback 0003307 Hypertrophic cardiomyopathy Enlarged and thickened heart muscle 0001639 Hypogonadism Decreased activity of gonads 0000135 [rarediseases.info.nih.gov]

• Progressive Hearing Loss

  The type of hearing loss was documented in 34 of the 58 cases (64.7% SNHL, 11.8% conductive hearing loss, and 23.5% mixed hearing loss). [jamanetwork.com]

• Muscular Atrophy

  Progressive muscular atrophy and decreased subcutaneous fat in the limbs also can occur. Easy fatigability is a symptom that has been described in 44%. The cardinal symptom of the disease is bone pain in the extremities in 90% of cases. [elsevier.es]

  […] dystrophy type 1B Ptosis strabismus ectopic pupils Manitoba oculotrichoanal syndrome Leri pleonosteosis Frontonasal dysplasia Limb-girdle muscular dystrophy Hypomyelination with atrophy of basal ganglia and cerebellum PGM1-CDG Cockayne syndrome type [checkrare.com]

• Normal Stature

  The defining characteristics and differential diagnosis of CED are well described in previous publications.1,20,28,29 There are multiple sclerosing bone disorders in patients with normal stature that commonly affect the skull base. [jamanetwork.com]

• Diplopia

  […] weakness 0001324 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Bone marrow hypocellularity Bone marrow failure 0005528 Diaphyseal sclerosis Increased bone density in shaft of long bone 0003034 Diplopia [rarediseases.info.nih.gov]

  […] stenosis, and increased ICP.62 Anterior fossa involvement commonly manifests with frontal bossing and exophthalmos,29 and hyposmia has been reported in 1 patient.23 Most patients with globe protrusion are asymptomatic, but a small percentage may experience diplopia [jamanetwork.com]

• Progressive Loss of Vision

  Kuhlencordt FKruse HPHellner KAMontz R Diaphyseal dysplasia (Camurati-Engelmann syndrome) with progressive loss of vision: 30-year observations and the effect of prednisolone treatment [author's translation] [in German]. [jamanetwork.com]

• Waddling Gait

  Patients generally present with pain in the extremities, waddling gait, easy fatigability, and muscle weakness. Pain may be severe, constant and aching and is exacerbated by cold weather and physical activity. [orpha.net]

  Common symptoms include extremity pain, muscle weakness, cranial nerve impairment and waddling gait. A small proportion can be asymptomatic. Patients can have hepatosplenomegaly 5. [radiopaedia.org]

  CED typically presents in childhood with generalized muscle weakness, lower limb pains and a waddling gait [ 1, 2 ]. [academic.oup.com]

• Headache

  She is now 63 years of age and has not had a recurrence of visual symptoms or headache. Patient 6 experienced headache and vision changes in the absence of exophthalmia or radiographic anterior cranial fossa involvement. [jamanetwork.com]

  If the bones at the base of the skull are affected, the individual may experience headaches, hearing loss, vision problems, vertigo, tinnitus, and even facial paralysis. [rarediseases.org]

• Cerebellar Ataxia

  Rare signs include sensory loss, slurred speech, dysphagia, cerebellar ataxia, anorexia, decreased subcutaneous tissue, hyperhidrosis of the extremities, delayed dentition, extensive dental caries, delayed puberty, hypogonadism and bladder incontinence [orpha.net]

  Camurati-Engelmann disease: two case reports describing metadiaphyseal dysplasia associated with cerebellar ataxia. J Bone Miner Res 1998 ; 13 : 1203 –7. 8 Allen DT, Saunders AM, Northway WH, Williams GF, Schafer IA. [academic.oup.com]

• Abnormal Gait

  […] muscle mass and muscle weakness ( 39 %) reported Abnormal gait reported in a 2 yr old Waddling gait in 48 % reported Plain radiographs can be useful in the workup of neuromuscular disorders in children Camurati-Engelmann Disease and other dysplasias should [orthopaedicsone.com]

Methods Clinical data were collected and a general laboratory workup was performed. At the lumbar spine and hip, BMD and TBS were measured using DXA imaging. [link.springer.com]

The purpose of this study was to investigate the mode of presentation of mutation-confirmed type I CED in order to facilitate adequate diagnostic workup. [synapse.koreamed.org]

[…] muscle mass and muscle weakness ( 39 %) reported Abnormal gait reported in a 2 yr old Waddling gait in 48 % reported Plain radiographs can be useful in the workup of neuromuscular disorders in children Camurati-Engelmann Disease and other dysplasias should [orthopaedicsone.com]

Management and treatment No disease-modifying treatment is available. Corticosteroids are reported to relieve the symptoms of CED. Analgesics and non-pharmacological methods can be used to treat pain. [orpha.net]

Figure 3: Trend of ESR after treatment. [journals.lww.com]

Treatment with cellulose phosphate led to worsening hypocalcemia and proximal myopathy in another individual. [ncbi.nlm.nih.gov]

The disease is slowly progressive and, while there is no cure, there is treatment.[citation needed] It is named for M. Camurati and G. [en.wikipedia.org]

Prognosis CED is a progressive disorder and prognosis is poor. Depending on the severity, quality of life is impaired by pain and reduced mobility. The documents contained in this web site are presented for information purposes only. [orpha.net]

Plain radiograph there is fusiform bony enlargement with sclerosis in long bones 6 the epiphyses are spared Nuclear medicine affected regions show high uptake with Tc99-MDP bone scintigraphy representing osteoblastic activity 4 Treatment and prognosis [radiopaedia.org]

(Outcomes/Resolutions) The prognosis of Camurati-Engelmann disease is generally good with appropriate treatment. [dovemed.com]

(de Quervain’s thyroiditis), 6 Definition and epidemiology, 6 Etiology and pathogenesis, 6 Signs and symptoms, 6 Diagnosis, 6 Treatment, 6 Illustration (Fig. 1.7), 7 Benign thyroid nodules, 8 Definition and epidemiology, 8 Etiology and pathogenesis, [euro-libris.ro]

Etiology In more than 90% of patients, mutations in the transforming growth factor TGFB1 gene (19q13.1) are detected. [orpha.net]

English : BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications CN congenital DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology [decs.bvsalud.org]

Summary Epidemiology The prevalence is unknown but more than 300 cases have been reported to date. CED has been described in various ethnic groups, and males and females are affected equally. [orpha.net]

1975) Allowable Qualifiers English : BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications CN congenital DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology [decs.bvsalud.org]

Neurology and Neurosurgery Czech and Slovak Ophthalmology Czech and Slovak Psychiatry Czech Geriatric Review Czech Gynaecology Czech Rheumatology Czech Dental Journal Czech Urology Czech-Slovak Dermatology Czecho-Slovak Pathology Czech-Slovak Pediatrics Epidemiology [prolekare.cz]

It is also known as “progressive diaphyseal dysplasia,” which emphasizes the pathophysiological epifocus. The disease mainly affects the diaphysis of the long tubular bones. [thejns.org]

Cranial affection occurs in 38% of cases and can be manifested by atrophy of the optic nerve, glaucoma, subluxation of the eyeball, sensorineural or conductive hearing loss in 15%.12 The pathophysiology of this lesions is based on nerve compression or [elsevier.es]

The inadequate activation of TGF-β1 on unnecessary sites leads to poor-quality bone formation, unfilled resorbed areas, and haphazard sclerotic areas.[9] Understanding the pathophysiology of the disease provided important insights into its treatment strategies [journals.lww.com]

Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation 2009; 119 : 880–890. 17. Janssens K, Vanhoenacker F, Bonduelle M, et al. [nature.com]

[…] diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PS parasitology PA pathology PP physiopathology PC prevention [decs.bvsalud.org]

Note: Steroids may delay bone hyperostosis and prevent or delay the onset of skull involvement. [ncbi.nlm.nih.gov]

It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. [rarediseases.oscar.ncsu.edu]