Question

Neuro-cutaneous markers: Types and appearance.

Hint:

Neurocutaneous markers are helpful clues in diagnosing genetic syndromes. They often correlate with underlying systemic involvement.

Answer 1

Step 1: Definition of Neuro-cutaneous Markers.
Neurocutaneous markers refer to cutaneous manifestations that are indicative of underlying neurodevelopmental or neurological disorders. These markers are important in diagnosing neurocutaneous syndromes.
Step 2: Types of Neuro-cutaneous Markers.
(1) Café-au-lait Spots - Light brown macules with irregular borders, often seen in conditions like Neurofibromatosis type 1 (NF1).
(2) Ash-leaf Macules - Hypopigmented macules seen in Tuberous Sclerosis.
(3) Port-wine Stains - Vascular malformations that may be seen in Sturge-Weber Syndrome.
(4) Sebaceous Nevi - Yellowish, raised lesions that can be seen in Basal Cell Nevus Syndrome.
(5) Fibromas - Soft, flesh-colored tumors typically associated with Neurofibromatosis type 1.
Step 3: Appearance of Markers.
(1) Café-au-lait Spots: Irregular, light brown spots, often more than six in number in NF1.
(2) Ash-leaf Macules: Small, oval-shaped light-colored spots, typically appearing on the trunk and limbs.
(3) Port-wine Stains: Red or purple discoloration of the skin, often involving the face or limbs.
(4) Sebaceous Nevi: Yellowish, raised patches usually found on the scalp or face.