EC Paediatrics

Introduction: Poikiloderma with neutropenia is a rare autosomal recessive genodermatosis whose main characteristics are early onset poikiloderma and chronic neutropenia. Until now there are around 80 patients described from around the world, with just a few patients from Europe. Patients are prone to recurrent sinopulmonary, middle ear, and skin infections. Also, poikiloderma with neutropenia is regarded as a pre-cancerous state with a predisposition to acute myeloid leukemia, and squamous cell carcinoma.

Case Outline: A thirteen-year-old boy from Serbia was diagnosed with poikiloderma with neutropenia in early childhood. The diagnosis was based on the clinical picture (generalized poikiloderma, pachyonychia, palmoplantar hyperkeratosis, calcinosis cutis) and chronic neutropenia in the blood count, and later confirmed by whole-exome sequencing. This is the first reported patient with this condition from Serbia. Since it is regarded as a precancerous condition, the boy has regular haemato-oncological and dermatological checkups. For prophylaxis of severe bacterial infections that are common in patients with this condition, he is successfully regularly given granulocyte colony-stimulating factor. Although our patient had no severe bacterial infections, he had at the age of ten a complicated form of measles with bilateral interstitial pneumonia (previously, despite the advice, he had not received the MMR vaccine).

Conclusion: We propose the regular use of granulocyte colony-stimulating factor in patients with poikiloderma and neutropenia, but with caution due to potential side effects. Additionally, we advise regular immunization of these patients.

Keywords: Poikiloderma; Neutropenia; Granulocyte Colony-Stimulating Factor; Precancerous Conditions

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