Engelmann syndrome
| Classification according to ICD-10 | |
|---|---|
| Q78.3 | Progressive diaphyseal dysplasia |
| ICD-10 online (WHO version 2019) | |
The Camurati-Engelmann disease (after Theodor Wilhelm Engelmann ) is a rare form of osteosclerosis and by a generalized bone hypertrophy in with increasing bone hardening with simultaneous reduction of bone strength. In principle, this syndrome can be inherited in an autosomal dominant manner , but it often occurs sporadically.
Synonyms
- Camurati-Engelmann Syndrome (CES)
- progressive diaphyseal dysplasia type 1
- Osteopathia hyperostotica multiplex infantilis
Ribbing syndrome is a form of Engelmann syndrome that is weakened in the severity of the symptoms .
causes
Engelmann syndrome is caused by a gene mutation on chromosome 19 gene locus q13.1-13.3. The beta-1 chain of transforming growth factor (TGF β1) is affected . The TGF contributes to the formation of the bones . It is possible that people themselves are symptom-free, but can inherit the syndrome as carriers.
Symptoms
The time at which clinical symptoms first manifest in Engelmann syndrome is in childhood. Overall, the symptoms show great variability, so that the individual case must always be carefully considered.
Classically, the syndrome manifests itself in the long bones ( tibia , femur , humerus , ulna , radius ), painful and progressive, even diaphyseal (= related to the middle part / diaphysis of the bones) excess formation of bone tissue ( hyperostosis ) and sclerosis the periosteum ( Periostsklerose ). The end pieces ( epiphyses ) and the bone sections between the dia- and epiphyses, the metaphyses , are not affected by the expansion. As a rule, the changes begin in the lower legs and later spread to other parts of the skeleton.
At first there is bone pain (especially in the legs) and, accompanied by muscle weakness and myopathy , difficulty walking ( duck walking ), later disproportionate growth can appear, which is characterized by disproportionately long arms and legs. Contractures of the large joints are common.
Has the progressive hyperostosis base of the skull and the lower jaw ( mandible reached), it can cause a narrowing of cerebral nerve channels come. Depending on the affected channel, this can lead to hearing impairments up to deafness , visual impairments up to blindness and facial paralysis . The intelligence is not affected. Affected children often tire quickly and complain of headaches. The Puberty often starts late. Flat feet and scoliosis can occur.
People with Engelmann syndrome are more likely than average to suffer from vascular diseases such as B. Raynaud's syndrome and diseases of the blood and blood-forming organs, which can lead to anemia , leukopenia and increased sedimentation rate ( blood sedimentation ).
diagnosis
To interpret the symptoms mentioned above, an unusual thickening of the cortical layer and enlarged medullary cavities can be determined by x-ray examinations on the affected long bones .
A differential diagnosis to other osteoscleroses such as B. craniodiaphyseal dysplasia does not always succeed. Difficulties in diagnosis can also be caused by the sometimes high variability in the severity of symptoms even within the family.
therapy
The administration of corticosteroids can normalize the clinical and radiological abnormalities. However, the medication changes the growth in the direction of short stature .
Ribbing syndrome
Ribbing syndrome is very rare and has so far only been described in a few sporadic cases and in siblings. The latter and the appearance of partial symptoms in the parents strengthen the assumption that the syndrome follows an autosomal recessive inheritance. Ribbing syndrome shows symptomatic parallels to Engelmann syndrome. The phenotype, however, only manifests itself after puberty , the excess formation of bone tissue (hyperostosis) begins asymmetrically and remains limited to the long tubular bones.
