Geroderma osteodysplastica
| Classification according to ICD-10 | |
|---|---|
| Q82.8 | Other specified congenital skin malformations |
| ICD-10 online (WHO version 2019) | |
The gerodermia osteodysplastica (synonyms Gerodermia osteodysplastica , Bamatter-Franceschetti-Klein-Sierro syndrome ) refers to a congenital developmental disorder of the connective tissue with premature aging of the skin associated with generalized bone decalcification.
The name Bamatter-Franceschetti-Klein-Sierro syndrome refers to the first description by the Swiss pediatrician Frédéric Bamatter together with the Geneva ophthalmologist Adolphe Franceschetti , the Geneva human geneticist David Klein and the doctor A. Sierro in 1950.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .
root cause
The disease is partly based on mutations in the GORAB gene at location 1q24.2.
Clinical manifestations
Clinical criteria are:
- Even in babies, sagging, wrinkled, old-looking skin
- Hyperextensible joints
- Short stature
- Generalized osteoporosis , hip dysplasia
- Often brachycephaly , bulging forehead,
- Occasionally microcornea , corneal opacity, glaucoma
In addition, there may be a general developmental delay and a slight intellectual deficit.
The combination of pronounced osteoporosis with spontaneous fractures together with the lack of an open large fontanel is considered to be an essential indicator of the geroderma osteodysplastica.
Differential diagnosis
Differentiating it from other forms of progeria and cutis laxa syndromes such as autosomal recessive cutis laxa type 2 (ARCL2), wrinkly skin syndrome (WSS) and De Barsy syndrome can be difficult.
therapy
Treatment of osteopenia can be done with bisphosphonates .
Prospect of healing
Life expectancy is not restricted, the incidence of bone fractures decreases with age.
Web links
- Geroderma osteodysplastica. In: Online Mendelian Inheritance in Man . (English)
Individual evidence
- ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ F. Bamatter, A. Franceschetti, D. Klein, A. Sierro: Gtérodermie ostéodysplasique héréditaire. A nouveau biotype of the "progeria". In: Annales paediatrie (Basel). Vol. 174, 1950, pp. 126-127.
- ↑ a b c d e Geroderma osteodysplastica. In: Orphanet (Rare Disease Database).
