A Case Report on Recurrent Oral Ulcers Associated with Cyclic Neutropenia

Cyclic Neutropenia (CyN) is a rare blood disorder characterized by regular oscillations in the value of peripheral blood neutrophils, generally with 21-day periodicity [1]. CyN was first reported in 1910, and usually presents early in childhood [2]. An estimated incidence of CyN was one to two per million [3]. Absolute neutrophil count is nadir, and always below 0.2*109/L [4]. During phases of neutropenia, patients frequently suffer from fever, necrotic stomatitis, pharyngalgia, lymphadenopathy and more serious infections. With increasing neutrophil count, the infections disappear [5,6]. CyN is responsive to granulocyte colony-stimulating factor (G-CSF), whereby G-CSF administration leads to shortened nadir duration, increased mean neutrophil count and alleviated clinical symptoms, but does not prevent recurrence [4]. Recently the locus for autosomal dominant CyN was mapped to chromosome 19p13.3, and CyN is now attributable to mutations found in the gene encoding neutrophil elastase (the ELA2 gene) [5]. Eighty percent of CyN patients are reported as having an ELA2 mutation. Several studies reported that CyN ELA2 mutations tend to be located in intron 4 and exons 2, 3 and 4 [4,5]. Here, we report a case of CyN in a 12-year-old boy as determined through clinical and lab examinations and by demonstration of a mutation in exon 4 of the ELA2 gene. There is an association of oral ulcers with cyclic neutropenia and this should be taken into consideration by examining physicians.