Table 7.

Treatment of Manifestations in Individuals with Encephalocraniocutaneous Lipomatosis

Manifestation/ConcernTreatmentConsiderations/Other
NP, alopecia, focal skin
aplasia/hypoplasia,
nodular skin tags 		Standard treatment per dermatologistMany skin findings do not require active mgmt.
Choristomas / Eye
anomalies 		Standard treatment per ophthalmologistCommunity vision services through early intervention or school district for those w/significant visual impairment
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
Low-grade gliomas Standard treatment per oncologist/neuro-oncologist1 person w/FGFR1-related ECCL & a progressive pilocytic astrocytoma was treated w/trametinib (a MEK inhibitor) w/resultant stable tumor size after 6 mos of treatment. 2
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Lytic bone lesions Standard treatment per orthopedist, if needed
Jaw tumors Standard treatment per dentistSuch tumors are not typically malignant but can grow into surrounding tissues.
Wilms tumor Standard treatment per oncologist
Family support
& resources
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.

ASM = anti-seizure medication; DD = developmental delay; ID = intellectual disability; NP = nevus psiloliparus

1.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

2.

From: Encephalocraniocutaneous Lipomatosis

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