Encephalocraniocutaneous lipomatosis Q87.0

Haberland and Perou 1970

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

1. Bennett J T et al (2016) Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis. At J Hum Genet 98: 579-587
2. 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
3. Haberland C, Perou M (1970) Encephalocraniocutaneous lipomatosis: a new example of ectomesodermal dysgenesis. Arch Neurol 22: 144-155
4. Moog U et al (2007) Brain anomalies in encephalocraniocutaneous lipomatosis. At J Med Genet 143A: 2963-2972
5. 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