Facial Neurocutaneous Markers and their Clinical Profile- A Case Report

Abstract

Cutaneous birth marks are heterogeneous group of congenital skin lesions with a high diagnostic value. A good clinician by looking at the skin, eye and face can diagnose conditions like Neurofibromatosis type 1 (NF1), Tuberous Sclerosis Complex (TSC), Ataxia-telangiectasia, Von Hippel-Lindau disease, Sturge-Weber Syndrome (SWS) and others. The author reports in the present case series, six cases presenting with one or more of the following seven different types of facial neurocutaneous markers like Café-au-lait Macules (CALM), neurofibromas, facial angiofibromas, forehead plaque, hypomelanotic macules (ash-leaf) on the trunk and extremities, capillary malformation in the face (port-wine stain) and ocular telangiectasia. Using these cutaneous markers as red alerts, the authors did a focused clinical examination, ophthalmic and auditory evaluation, neuroimaging, renal and cardiac evaluation to come to a diagnosis. This helped us in detecting clinical syndromes like NF1, TSC, SWS and unveiled the hidden morbidities like hypertension, intracranial tumours, intracardiac rhabdomyoma, glaucoma and others ocular abnormalities. The present case series emphasises on the need for all Paediatrician and Ophthalmologist, to develop a clinical eye to identify neurocutaneous markers in children, who may arrive at their clinic with various problems for early diagnosis and treatment of various neurocutaneous syndrome and their co-morbidities.