Facial Neurocutaneous Markers and their Clinical Profile- A Case Series
Published: May 1, 2023 | DOI: https://doi.org/10.7860/JCDR/2023/62396.17868
Bibekananda Mukherjee, Barnali Das, Joydeep Das
1. Assistant Professor, Department of Paediatrics, Jagannath Gupta Institute of Medical Sciences and Hospital, Kolkata, West Bengal, India.
2. Assistant Professor, Department of Paediatrics, Institute of Child Health (ICH), Kolkata, West Bengal, India.
3. Professor and Head, Department of Paediatrics, Jagannath Gupta Institute of Medical Sciences and Hospital, Kolkata, West Bengal, India.
Correspondence
Bibekananda Mukherjee,
Flat No. 1E-102, Alaktika Housing Complex, Action Area-2, Newtown, Near City Centre 2 Mall, North 24 Parganas, Kolkata, West Bengal, India.
E-mail: bmtata@gmail.com
Cutaneous birthmarks are a heterogeneous group of congenital skin lesions with high diagnostic value. A good clinician, by looking at the skin, eyes, 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 other ocular abnormalities. The present case series emphasises the need for all paediatricians and ophthalmologists 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 syndromes and their co-morbidities.
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