Introduction: Poikiloderma with neutropenia (PN), also known as Clericuzio-type, is a rare autosomal recessive disorder characterized by immune system defects. This condition manifests in infancy with a distinctive rash that spreads over time, accompanied by various systemic symptoms, including recurrent infections and chronic neutropenia. Understanding this disorder is crucial for timely diagnosis and management, especially given its significant morbidity and potential mortality. Case presentation: We present a case of a 7-year-old Syrian male diagnosed with PN. He presented to the pediatric department with right flank pain, a triphasic fever pattern, dysuria, and dysphagia. His medical history included recurrent respiratory infections and a hyperpigmented rash since infancy. Clinical examination revealed significant symptoms, including developmental delays, pallor, and abnormal nails. Clinical discussion: The case emphasizes the clinical challenges in diagnosing PN, particularly given overlapping features with other inherited poikilodermas. Characteristic symptoms include the presence of poikiloderma, neutropenia, and recurrent infections. The autosomal recessive inheritance pattern noted in this case aligns with the documented familial patterns in existing literature. Clinicians must maintain a high index of suspicion and consider a comprehensive evaluation in patients exhibiting similar clinical signs to ensure accurate diagnosis and effective management. Conclusion: This Syrian case of PN illustrates how a carefully reasoned clinical diagnosis, in the absence of genetic testing, can guide effective care in low-resource contexts. It highlights pragmatic pathways (infection surveillance, antimicrobial escalation, and preventive counseling) that remain actionable even when confirmatory genetics are unavailable.
Alabed et al. (Fri,) studied this question.