SCALP Syndrome

Description

The SCALP Syndrome is a rare neuro-cutaneous disorder. The name is an acronym for the key clinical findings. It shares features with the Sebaceous Nevus Syndrome.

Key clinical elements:

(1) sebaceous nevus syndrome (S)

(2) CNS malformations (C) with neurocutaneous melanosis

(3) aplasia cutis congenita (A)

(4) limbal dermoid (L)

(5) pigmented nevus (giant congenital melanocytic nevus, P)

The case reported by Chan et al showed mutations in NRAS.

Clinical features may include:

(1) developmental delay

(2) seizures

(3) CNS melanoma

(4) variable ophthalmologic findings

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