ALSG syndrome
| Classification according to ICD-10 | |
|---|---|
| Q10.4 | Lack and agenesis of the lacrimal system |
| Q38.4 | Congenital malformations of the salivary glands and salivary ducts |
| ICD-10 online (WHO version 2019) | |
The ALSG syndrome , acronym for A hyperplasia of gland L acrimalis and S peicheldrüsen ( G landula salivaria), is a very rare congenital disease with aplasia of the lacrimal and salivary glands.
The first description is from 1928 by WR Ramsey.
The acronym was proposed in 2007 by the Swedish human geneticist Miriam Entesarian and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .
root cause
The diseases are mutations in FGFR10 - gene on chromosome 5 locus p12 based on which a receptor for the growth factor fibroblast coded.
Mutations in this gene are also found in LADD syndrome .
Clinical manifestations
Clinical criteria are:
- Aplasia , atresia, or hypoplasia of the lacrimal and salivary glands
- recurrent eye infection , irritated eyes, epiphora
- dry mouth, tooth decay , infections of the oral cavity.
literature
- D. Neagu, B. Patiño-Seijas, R. Luaces-Rey, J. Collado-López, .. García-Rozado-González, JL López-Cedrún-Cembr: Aplasia of the lacrimal and major salivary glands (ALSG). First case report in spanish population and review of the literature. In: Journal of Clinical and Experimental Dentistry. Volume 10, number 12, December 2018, pp. E1238 – e1241, doi: 10.4317 / jced.55350 , PMID 30697385 , PMC 6343968 (free full text).
- DB Chapman, V. Shashi, DJ Kirse: Case report: aplasia of the lacrimal and major salivary glands (ALSG). In: International journal of pediatric otorhinolaryngology. Volume 73, Number 6, June 2009, pp. 899-901, doi: 10.1016 / j.ijporl.2009.03.004 , PMID 19376597 .
Individual evidence
- ↑ a b c lacrimal and salivary gland aplasia. In: Orphanet (Rare Disease Database).
- ^ WR Ramsey: A case of hereditary congenital absence of the salivary glands. In: American Journal of Diseases of Children. Vol. 28, p. 440, 1924.
- ↑ M. Entesarian, J. Dahlqvist, V. Shashi, CS Stanley, B. Falahat, W. Reardon, N. Dahl: FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG). In: European Journal of Human Genetics . Volume 15, Number 3, March 2007, pp. 379-382, doi: 10.1038 / sj.ejhg.5201762 , PMID 17213838 .
- ↑ aplasia of lacrimal and salivary glands. In: Online Mendelian Inheritance in Man . (English)
