Images show café au lait spots, Lisch nodules on the iris, and swelling near the eye. Identify the most likel… - INI-CET EXAM -2026

INI-CET EXAM -2026

Pathology & Genetics

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Appeared in: INI-CET EXAM -2026

Explanation

NF-1 is a genetic disorder affecting the nervous system and skin, caused by a mutation in the NF1 gene on chromosome 17.
The diagnosis is clinical, requiring two or more specific criteria to be met.
The patient's signs—café-au-lait spots (a pigmentary finding), Lisch nodules (iris hamartomas), and swelling near the eye (likely a plexiform neurofibroma)—satisfy three of the major diagnostic criteria.
Café-au-lait macules are the hallmark of NF-1 and are present in almost all patients.
Lisch nodules are found in over 90% of adults with NF-1 and are best seen with a slit-lamp examination.
Plexiform neurofibromas are congenital tumors that can cause significant disfigurement and complications.

Option B: Tuberous sclerosis is characterized by different signs, primarily hypopigmented 'ash-leaf' spots, facial angiofibromas (adenoma sebaceum), and shagreen patches. It does not present with the combination of café-au-lait spots and Lisch nodules.
Option C: Sturge-Weber syndrome is a vascular, not neuro-tumoral, disorder. Its classic sign is a facial port-wine stain (nevus flammeus) in the distribution of the trigeminal nerve, often associated with glaucoma and leptomeningeal angiomas.
Option D: Von Hippel-Lindau disease is characterized by the growth of tumors and cysts in various organs, particularly hemangioblastomas in the retina and central nervous system, renal cell carcinoma, and pheochromocytomas. The skin and iris findings of NF-1 are absent.

Clinical Relevance

Nursing practice connection: Knowing Diagnosis of neurocutaneous syndromes based on clinical signs helps nurses interpret findings accurately and avoid errors in routine assessment, medication administration, and patient teaching.
Nurses play a key role in identifying the signs of neurocutaneous syndromes during routine assessments, especially in pediatric settings. Early recognition is crucial for timely referral to specialists.
Management of NF-1 is multidisciplinary and focuses on surveillance for complications. Nurses must monitor blood pressure (risk of hypertension), assess for scoliosis, and perform regular vision screenings (risk of optic glioma).
Patient and family education is a vital nursing function, covering the genetic nature of the disorder, the variable expression, and the importance of regular follow-up to monitor for tumor development (e.g., malignant peripheral nerve sheath tumors).

How to Approach the Question

First, carefully analyze the clinical findings presented in the question: café-au-lait spots (skin), Lisch nodules (eye), and swelling near the eye (nerve tumor).
Recognize that this combination of signs affecting multiple systems (skin, eyes, nerves) points towards a systemic genetic syndrome, specifically a neurocutaneous disorder.
Systematically review the diagnostic criteria for each option provided.
Evaluate Option A (NF-1): Recall or look up the criteria. The presence of café-au-lait spots, Lisch nodules, and a probable neurofibroma strongly matches the diagnostic criteria for NF-1.
Evaluate the other options (B, C, D): Note that Tuberous Sclerosis, Sturge-Weber, and Von Hippel-Lindau have distinct and different hallmark features that are not present in the question's description.
Conclude that NF-1 is the most likely diagnosis as it is the only one that accounts for all the presented clinical signs.

Concept Tested & Keywords

Concept Tested: Diagnosis of neurocutaneous syndromes based on clinical signs.
Stem keywords: café au lait spots, Lisch nodules, swelling near eye, syndrome
Lead-in keywords: Identify the most likely
Clinical cues: The presence of a triad of specific signs (skin, eye, and nerve tumor) points towards a single underlying genetic disorder.

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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