The present study emphasized the importance of clinical and genetic evidence for the diagnosis of CED. The data presented in the present study are of significance to clinicians, as well as genetic counselors, in the prenatal screening of CED. [spandidos-publications.com]

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]

Bullough, MB, ChB, presents a unique, lavishly illustrated account of the pathology of arthritic disorders, metabolic disturbances, and soft tissue and bone tumors. [books.google.com]

Present On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery [icd10data.com]

Pain in the extremities was the most common clinical symptom, present in 68% of the patients. A waddling gait (48%), easy fatigability (44%), and muscle weakness (39%) were other important features. [ncbi.nlm.nih.gov]

• Cushingoid

  However, treatment had to be suspended as the patients became Cushingoid. The symptomatic patient from family 5 benefited from prednisolone treatment as pain and muscle weakness disappeared, while appetite and vigour increased. [doi.org]

• Hepatomegaly

  […] erythrocyte sedimentation rate High ESR 0003565 Facial palsy Bell's palsy 0010628 Feeding difficulties in infancy 0008872 Frontal bossing 0002007 Genu valgum Knock knees 0002857 Glaucoma 0000501 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hepatomegaly [rarediseases.info.nih.gov]

• Prognathism

  […] kinesigenic choreoathetosis Ehlers-Danlos syndrome, vascular type Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly Corneal dystrophy and perceptive deafness Spondylocostal dysostosis Dandy-Walker complex Pontocerebellar hypoplasia type 6 Prognathism [checkrare.com]

• 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]

• Absence of Subcutaneous Fat

  Note the absence of subcutaneous fat (weight 27 kg), muscle hypotrophy, and valgus deformity of the knees and feet. Muscle weakness restricts her maximum walking distance to 20 to 50 m. [doi.org]

• Joint Limitation

  The age that symptoms begin varies greatly, but most people with this condition develop pain or weakness by adolescence. 0002992 Limitation of joint mobility Decreased joint mobility Decreased mobility of joints Limited joint mobility Limited joint motion [rarediseases.info.nih.gov]

  limitations and ectopia lentis (more prevalent in AD WMS), 97 although these characteristics are commonly seen in both forms of WMS. [nature.com]

• Muscular Atrophy

  atrophy 1 Facial onset sensory and motor neuronopathy Brachydactyly type B Infantile convulsions and paroxysmal choreoathetosis, familial Maturity-onset diabetes of the young Chylous ascites Familial breast cancer Multiple familial trichoepithelioma [checkrare.com]

  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]

• Bowing of The Long Bones

  […] of the long bones Ghosal hematodiaphyseal dysplasia (OMIM 231095 ) TBXAS1 AR Diaphyseal sclerosis Severe anemia; leukopenia & thrombocytopenia Endosteal hyperostosis, AD (OMIM 144750 ) LRP5 AD Diaphyseal sclerosis (endosteal), cranial nerve involvement [ncbi.nlm.nih.gov]

• Hearing Impairment

  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]

  Pubmed Higashi K, Matsuki C: Hearing impairment in Engelmann disease. Am J Otol. 1996 Jan;17(1):26-9. [orthopaedicsone.com]

• Blurred Vision

  Involvement of the orbit has led to blurred vision, proptosis, papilledema, epiphora, glaucoma, and subluxation of the globe [ Carlson et al 2010, Popiela & Austin 2015 ]. [ncbi.nlm.nih.gov]

  At 14 years of age, patient 2 underwent evaluation for increased headaches, blurred vision, and papilledema. During lumbar puncture she was found to have an elevated opening pressure of 35 cm H 2 O. [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]

  […] 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]

• Waddling Gait

  A waddling gait (48%), easy fatigability (44%), and muscle weakness (39%) were other important features. Radiological symptoms were not fully penetrant, with 94% of the patients showing the typical long bone involvement. [ncbi.nlm.nih.gov]

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

  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]

• 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]

  An increase in the density of the skull results in increased pressure on the brain and can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis [xpertdox.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]

  In about a quarter of individuals with Camurati-Engelmann disease, the thickened skull increases pressure on the brain or compresses the spinal cord, which can cause a variety of neurological problems, including headaches, hearing loss, vision problems [ghr.nlm.nih.gov]

  Craniectomy has relieved increased intracranial pressure and headaches in affected individuals [ Carlson et al 2010 ]. [ncbi.nlm.nih.gov]

• 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]

  ataxia, deafness, and narcolepsy Achondrogenesis type 2 Tangier disease Charcot-Marie-Tooth disease type 2F Niemann-Pick disease type B Macrocephaly mesodermal hamartoma spectrum PHAVER syndrome Hunter Rudd Hoffmann syndrome D-glycericacidemia Dystonia [checkrare.com]

• Loss of Speech

  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]

  Rarely, clonus [ Neuhauser et al 1948 ], sensory loss, slurred speech, dysphagia, cerebellar ataxia, and bowel and bladder incontinence are reported [ Carlson et al 2010 ]. [ncbi.nlm.nih.gov]

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]

TREATMENT Drug treatment Glucocorticosteroids are anti-inflammatory and immunosuppressive agents. [doi.org]

The review provides an overview of possible treatments, diagnostic guidelines, and considerations for prenatal testing. [ncbi.nlm.nih.gov]

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

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 Bone scintigraphy affected regions show high uptake with Tc 99 -MDP bone scintigraphy representing osteoblastic activity 4 Treatment and prognosis [radiopaedia.org]

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]

DOI: Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease): Clinical Supervision Abstract A brief review of the literature on the etiology, pathogenesis, prevalence and clinical manifestations of rare congenital systemic disease of the skeleton [trauma.zaslavsky.com.ua]

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

(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]

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]

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]

(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]

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]

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]

Diagnosis, 77 Treatment, 77 Illustrations (Figs 4.1–4.5), 77–79 Skin diseases associated with diabetes, 80 Definition, 80 Etiology, 80 Signs and symptoms, 80 Diagnosis, 80 Treatment, 80 Illustrations (Figs 4.6 & 4.7), 80–81 Diabetic foot, 81 Definition, 81 Pathophysiology [euro-libris.ro]

[…] 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]