Camurati–Engelmann disease

The Engelmann syndrome ( after Theodor Wilhelm Engelmann ) is a rare form of osteosclerosis and characterized by a generalized bone overgrowth with increased bone hardening with simultaneous decrease in bone strength. In principle, this syndrome is an autosomal dominant inherited, but occurs sporadically frequently.

Synonyms

• Camurati - Engelmann syndrome ( CES)
• Progressive diaphyseal dysplasia type 1
• Osteopathia hyperostotica multiplex infantilis

A weakened in the severity of their symptoms form of Engelmann syndrome is the ribbing syndrome.

Cause

The Engelmann syndrome is caused by a genetic mutation; Locus is 19q13.1 - 13.3. This affects the beta -1 chain of the Transforming Growth Factor (TGF β1 ). The TGF has a share in the shaping of the bones. It is possible that although people are themselves free of symptoms, but can inherit as carriers the syndrome.

Symptoms

The timing of onset of clinical symptoms is with the Engelmann syndrome in childhood. The symptoms shows overall a great variability, so that always the individual case is to be considered accurate.

Classically, the syndrome manifests itself through initially on the long bones (tibia, femur, humerus, ulna, radius) occurring painful and progressive uniform diaphyseal (to the middle part / the diaphysis of the bone -related ) excess bone tissue formation ( hyperostosis ) and by a sclerosis the periosteum ( Periostsklerose ). The end pieces ( epiphyses ) and the bone sections between slide and epiphyses, the metaphyses are not affected by the expansion. In general, the changes begin on the lower legs and later go on to other parts of the skeleton.

It will initially cause bone pain (especially in the legs) and accompanied by a muscle weakness and myopathy difficulty walking ( duck walk ), later may show a unproportioniertes growth, which is characterized by disproportionately long arms and legs. Contractures of the large joints are common.

Does the progressive hyperostosis reached the base of the skull and the lower jaw ( mandible ), it can lead to a narrowing of cranial nerve channels. This has ever on the affected channel hearing impairment through to deafness, visual impairment even blindness and facial paralysis resulted. The intelligence is not impaired. Affected children often tire quickly and complain of headaches. Puberty often begins late. Flat feet and scoliosis may occur.

People with the Engelmann syndrome are more often than average of vascular diseases such as may cause Raynaud's syndrome and diseases of the blood and blood-forming organs as anemia, leukopenia and elevated erythrocyte sedimentation rate ( erythrocyte sedimentation rate ), affected.

Diagnosis

To interpret the above-mentioned symptoms an unusual thickening of the cortical layer ( cortex ) and advanced medullary cavities can be determined by X-ray studies of the affected bones.

A differential diagnosis to other osteosclerosis is not always possible. Difficulties in diagnosis may also invoke the self within the family sometimes high variability of symptom expression.

Therapy

The administration of corticosteroids leads to a normalization of clinical and radiographic abnormalities. Growth, however, altered by the medication towards dwarfism.

Ribbing syndrome

The Ribbing syndrome has been described very rare and so far only in a few sporadic cases and in sibships. The latter and the occurrence of symptoms in part of the parents strengthens the assumption that the syndrome follows an autosomal recessive inheritance. When Ribbing syndrome show symptomatic parallels to Engelmann syndrome. The phenotype, however it manifests itself after puberty, the excess bone tissue formation ( hyperostosis ) begins asymmetric and remains on the long bones limited.