Majeed Syndrome
| Classification according to ICD-10 | |
|---|---|
| M86.3 | Chronic multifocal osteomyelitis |
| ICD-10 online (WHO version 2019) | |
The Majeed syndrome is a very rare congenital disease with a combination of CRMO , a congenital anemia and an inflammatory skin disease .
The name refers to the first author of the first description from 1989 by HA Majeed and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive . So far, two Arab families have been described.
root cause
The disease is based on mutations in the LPIN2 gene at location 18p11.31.
Clinical manifestations
Clinical criteria are:
- Chronic recurrent multifocal osteomyelitis
- Congenital dyserythropoietic anemia with microcytosis in the blood and bone marrow
- Inflammatory dermatosis such as Sweet's syndrome or pustulosis
- Beginning in early childhood
Diagnosis and therapy
Both diagnosis and treatment are carried out independently for the three components, see there.
Treatment with immunosuppressants against anti-IL-1 should be promising.
literature
- HI El-Shanti, PJ Ferguson: Chronic recurrent multifocal osteomyelitis: a concise review and genetic update. In: Clinical orthopedics and related research. Vol. 462, September 2007, pp. 11-19, doi : 10.1097 / BLO.0b013e3180986d73 , PMID 17496555 (review).
- PJ Ferguson, S. Chen, MK Tayeh, L. Ochoa, SM Leal, A. Pelet, A. Munnich, S. Lyonnet, HA Majeed, H. El-Shanti: Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome). In: Journal of medical genetics. Vol. 42, No. 7, July 2005, pp. 551-557, doi : 10.1136 / jmg.2005.030759 , PMID 15994876 , PMC 1736104 (free full text).
Individual evidence
- ↑ a b c Majeed syndrome. In: Orphanet (Rare Disease Database).
- ↑ HA Majeed, M. Kalaawi, D. Mohanty, AS Teebi, MF Tunjekar, F. al-Gharbawy, SA Majeed, AH al-Gazzar: Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. In: The Journal of pediatrics. Vol. 115, No. 5 Pt 1, November 1989, pp. 730-734, PMID 2809904 .
- ^ Majeed syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ T. Herlin, B. Fiirgaard, M. Bjerre, G. Kerndrup, H. Hasle, X. Bing, PJ Ferguson: Efficacy of anti-IL-1 treatment in Majeed syndrome. In: Annals of the rheumatic diseases. Vol. 72, No. 3, March 2013, pp. 410-413, doi : 10.1136 / annrheumdis-2012-201818 , PMID 23087183 , PMC 3660147 (free full text).
