Encephalocraniocutaneous lipomatosis: A case report and review of the literature

Abstract

Encephalocraniocutaneous lipomatosis (ECCL) is a rare, sporadic congenital neurocutaneous disorder that characteristically involves ectomesodermal tissues, such as skin, eyes, and central nervous system. A 3-day-old girl presented with swelling in her right eye since birth. Ocular examination of the right eye showed hypertrophy of bulbar conjunctiva with limbal dermoid, clouding of cornea, and atypical upper eyelid coloboma. The left eye showed conjunctival congestion and corneal vascularization. Dermatological examination showed alopecia, nevus psiloliparus, focal dermal hypoplasia on forehead, multiple focal aplastic lesions on the scalp, skin tag at canthus, and lipoma in the fronto-temporal region. Imaging revealed calcification of the right globe, hydrocephalus, agenesis of corpus callosum, multiple intracranial cysts, calcification, and lipomas. The constellation of these clinical and the imaging findings led to a diagnosis of encephalocraniocutaneous lipomatosis. This case report and review of the literature is presented to provide a synopsis of problems likely to be encountered by an ophthalmologist who treats patients with ECCL.

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

“…Nevus psiloliparus and choristomas are observed in up to 80% of ECCL patients, whereas skin tags are another common sign that can be identified in up to 70% of cases (Moog, ). Optic nerve coloboma, identified in the right eye of our ECCL patient (#6), has been previously reported in at least two subjects with the disease (Chandravanhi, ; Hunter, ). Somatic FGFR1 and KRAS mutations were recently demonstrated in subjects with ECCL (Bennett et al, ; Boppudi et al, ).…”

Lipomatosis encefalocraneocutánea: reporte de caso

“…El tratamiento es sintomático, por lo que en caso de crisis convulsivas se pautarán fármacos antiepilép-ticos. Se puede recurrir al tratamiento estético quirúr-gico para las lesiones dérmicas u oculares 14 .…”

Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome)

“…22 Other reported ocular findings are aniridia, microphthalmia, hyaloid vessels, dislocation of the lens capsule, clouding of the cornea, iris dysplasia, colobomas, ocular calcifications, and optic nerve pallor. 8,54 The ocular lesions are usually ipsilateral to cutaneous and neurological findings. In 2003, Almer et al reported a case of ECCL with bilateral aniridia.…”