Question

A middle-aged man has a swelling over the neck since childhood, with the overlying skin not intact, which had a bag-of-worms or worm-like appearance with a black spot in the middle. What will be the diagnosis?

• A. Cirsoid aneurysm
• B. Varicocele
• C. Plexiform neurofibroma
• D. Lymphangioma

Hint:

A lifelong 'bag of worms' mass with cafe-au-lait spots points to a nerve sheath tumour of NF-1.

Answer 1

The Correct Option is C

Step 1: Pick up the buzzword. A soft, irregular mass that feels and looks like a 'bag of worms' and has been present since childhood is the classic description of a plexiform neurofibroma.
Step 2: Link it to a syndrome. Plexiform neurofibromas are an uncommon variant of neurofibromatosis type 1 (NF-1), in which neurofibromas grow along multiple nerves as bulging, deforming masses that also involve connective tissue and skin folds.
Step 3: Look for associated signs. Patients usually also have multiple cutaneous neurofibromas and cafe-au-lait macules on the trunk and limbs, supporting NF-1.
Why the others are wrong: A cirsoid aneurysm is a pulsatile mass of dilated arteriovenous channels, usually on the scalp. A varicocele is a bag-of-worms scrotal mass, not on the neck. A lymphangioma (cystic hygroma) is a soft, brilliantly transilluminant cystic neck swelling, not worm-like cords.
Ref: Plexiform neurofibroma, NF-1 (PMC4753888).