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Cyclic Neutropenia — NDEB AFK MCQ

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HardOral MedicineCyclic NeutropeniaNDEB AFK

Which of the following conditions presents with oral ulcers as a primary feature AND has a known genetic basis?

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Correct answer: CCyclic neutropenia (autosomal dominant, ELANE gene mutation)

Cyclic neutropenia is an autosomal dominant condition caused by mutations in the ELANE gene (encoding neutrophil elastase), resulting in cyclic fluctuations in neutrophil counts with a periodicity of approximately 21 days. During the neutropenic nadir (neutrophil count <200/μL), patients develop recurrent oral ulcers (resembling aphthous ulcers), fever, malaise, cervical lymphadenopathy, and increased susceptibility to infections. The oral ulcers coincide predictably with the neutropenic cycles and resolve as the count recovers. Serial CBC monitoring confirms the cyclic pattern.

Reference: Neville – Oral and Maxillofacial Pathology, 4th ed., 2016