Which of the following conditions is primarily characterised by neurocutaneous markers, such as cafe-au-lait macules and Lisch nodules?

Appeared in: BTSC Staff Nurse 30July-2025

Explanation

Neurofibromatosis type 1 (NF1) is a genetic disorder that primarily affects the skin and nervous system.
The diagnosis of NF1 is based on specific clinical criteria, with two of the most prominent being café-au-lait macules (hyperpigmented skin spots) and Lisch nodules (benign growths on the iris).
According to diagnostic criteria, the presence of six or more café-au-lait macules over a certain diameter is a hallmark sign for NF1.
Lisch nodules are found in over 90% of adults with NF1 and are highly specific to the condition.

Option A: Sturge-Weber syndrome is incorrect because its primary cutaneous feature is a facial port-wine stain (nevus flammeus), a type of capillary malformation, not café-au-lait macules.
Option B: Von Hippel-Lindau disease is incorrect because it is not primarily characterized by cutaneous markers like café-au-lait spots. Its main features are visceral cysts and tumors such as hemangioblastomas in the central nervous system and retina.
Option C: Tuberous Sclerosis Complex is incorrect because its characteristic skin findings are hypopigmented (ash-leaf) spots, facial angiofibromas (adenoma sebaceum), and shagreen patches.

Clinical Relevance

Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain Differential diagnosis of neurocutaneous syndromes (phakomatoses) as background academic context rather than a clinical decision trigger.
Nurses play a vital role in identifying the signs of neurocutaneous syndromes during routine health screenings, especially in children, as skin findings are often the first clue.
For a patient diagnosed with NF1, nursing care involves lifelong monitoring for complications. This includes regular blood pressure checks (risk of hypertension), scoliosis screening, developmental assessments, and skin examinations to watch for any changes in neurofibromas.
Patient education is a key nursing responsibility, focusing on the genetic nature of the disease, the importance of regular follow-up with a multidisciplinary team, and resources for support.

How to Approach the Question

This is a factual recall question that tests your knowledge of different genetic syndromes.
First, identify the key clinical signs provided in the question stem: 'cafe-au-lait macules' and 'Lisch nodules'. These are the defining features you need to match.
Next, systematically review the options and recall the characteristic features associated with each neurocutaneous syndrome.
Eliminate options based on their primary characteristics: Sturge-Weber is known for port-wine stains, Von Hippel-Lindau for hemangioblastomas, and Tuberous Sclerosis for ash-leaf spots.
Match the specific signs from the stem (café-au-lait macules and Lisch nodules) to the correct condition. These are the classic, hallmark signs of Neurofibromatosis type 1.

Concept Tested & Keywords

Concept Tested: Differential diagnosis of neurocutaneous syndromes (phakomatoses)
Stem keywords: neurocutaneous markers, cafe-au-lait macules, Lisch nodules
Lead-in keywords: Which of the following
Negative lead-in flag: false

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E6 Nelson Textbook of Pediatrics(2024) — Volume 2 pp. 1459-1461, 1460-1462

E6 Ghai Essential Pediatrics(pp 26-904 of 913) p. 576-578

Practise the full BTSC Staff Nurse 30July-2025

Attempt every question from this paper in a timed mock, then review the full solution for each one.