Clinical Guidance
To date, at least 85 individuals with a clinical and/or molecular diagnosis of encephalocraniocutaneous lipomatosis (ECCL) have been reported [, , , ]. Of these, 14 individuals have been identified with a pathogenic variant in FGFR1 [, , , , , ] and a few with a pathogenic variant in KRAS [, , , ]. The following description of the phenotypic features in individuals with a clinical and/or molecular diagnosis associated with ECCL is based on these reports. Note: There is evidence that oculoectodermal syndrome (OES) may constitute a clinical spectrum with ECCL, with OES on the mild end and ECCL on the more severe end of the spectrum. Individuals who do not fulfill the clinical diagnostic criteria for ECCL but display some features have sometimes been reported as having OES . ECCL comprises a spectrum of predominantly congenital anomalies. In its typical form, ECCL is characterized by congenital skin, eye, and brain anomalies, in particular intracranial and spinal lipomas. To a much lesser degree, the bones and the heart can be affected. About 40% of affected individuals have bilateral abnormalities of the skin or the eyes. Although variable in its extent and severity, the pattern of skin and eye findings is often consistent and recognizable. Since 2016, ECCL has also been recognized as a tumor predisposition syndrome . Table 2. Encephalocraniocutaneous Lipomatosis: Frequency of Select Features
Feature | % of Personsw/Feature | Comment |
|---|
Skin | Nevus psiloliparus | 75% |
Nodular skin tags | 70%-75% | Periocular or between outer canthus tragus |
Alopecia | Common | A specific percentage is difficult to define. |
Subcutaneous fatty lipomas | 40% | Frontotemporal or zygomatic |
Focal scalp aplasia/hypoplasia | 25% | — |
Pigmentary abnormalities | Rare | Either as spots or following lines of Blaschko |
Eye | Choristomas | 80%-85% |
CNS | Intracranial lipomas | 65% |
Other findings | Common | See . |
Neurologic | Developmental delay/intellectual disability | 65% |
Seizures | 50% | — |
Tumors | Brain tumors | Unknown |
Jaw tumors | Unknown | Based on , , Skin. Non-scarring alopecia (with or without underlying fatty tissue) and subcutaneous fatty masses are the most typical skin anomalies. |
Source: GeneReviews — "Encephalocraniocutaneous Lipomatosis"
