Werner-Syndrom
nicht verwechseln mit: Wermer-SyndromWerner syndrome is a progeroid rare autosomal recessive condition attributed to chromosome 8. It should not to be confused with similarly sounding Wermer syndrome.
Pathology
Werner syndrome is characterized by
- premature senescence
- cataracts
- short stature
- scleroderma-like skin changes such as hyperkeratotic skin, soft tissue calcification
- endocrine abnormalities such diabetes mellitus and hypogonadism
Associations
The syndrome also carries an increased risk of malignancy (particularly sarcoma formation ).
Radiographic features
A general manifestation is valvular, soft tissue and/or arterial calcification from premature atherosclerosis. Musculoskeletal manifestations includes:
- osteoporosis: either generalized or localized to the peripheries
- osteosclerosis: phalangeal predominant
Etymology
First described by Otto Werner, German scientist, in 1904.
Siehe auch:
- Osteoporose
- Systemische Sklerodermie
- multiple endokrine Neoplasie Typ 1
- Hutchinson-Gilford-Progerie-Syndrom (HGPS)
und weiter:
Assoziationen und Differentialdiagnosen zu Werner-Syndrom:
multiple
endokrine Neoplasie Typ 1 ⤙•⤚ Werner-Syndrom
Hutchinson-Gilford-Progerie-Syndrom
(HGPS) ⤙•⤚ Werner-Syndrom