Encephalocraniocutaneous lipomatosisQ87.0
Synonym(s)
HistoryThis section has been translated automatically.
Haberland and Perou 1970
DefinitionThis section has been translated automatically.
Rare complex neurocutaneous syndrome (gene mutation of the FGFR1 gene; chromosome: 8p11.23) characterized by an alopecic, smooth adipose tissue nevus of the scalp (nevus psililiparus; detectable in 80% of cases), non-scarring alopecia as well as focal hypoplasia or aplasia of the hairy scalp, infantile hemangiomas and malformations of the vessels of the adipose and connective tissue (Moog U et al. 2007).
Furthermore, lipomas, periocular fibromas as well as involvement of the central nervous system and the eyes are found (Delfino LN et al. 2011).
There is a predisposition to "low-grade" gliomas. Intellectual defects are often detectable; 1/3 of the affected persons have a normal intelligence quotient. Skeletal malformations manifest themselves as bone cysts, tumours of the jaws such as odontomas, osteomas, and ossified fibromas (Bennett et al. 2016
LiteratureThis section has been translated automatically.
- Bennett J T et al (2016) Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis. At J Hum Genet 98: 579-587
- Delfino LN et al(2011) Encephalocraniocutaneous lipomatosis (ECCL): neuroradiological findings in three patients and a new association with fibrous dysplasia. At J Med Genet 155A: 1690-1696
- Haberland C, Perou M (1970) Encephalocraniocutaneous lipomatosis: a new example of ectomesodermal dysgenesis. Arch Neurol 22: 144-155
- Moog U et al (2007) Brain anomalies in encephalocraniocutaneous lipomatosis. At J Med Genet 143A: 2963-2972
- Moog U et al (2007) Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: harboring clues to pathogenesis? At J Med Genet 143A: 2973-2980