Hyperbaric oxygen management of recurrent cellulitis in poikiloderma with neutropenia

Abstract

Poikiloderma with neutropenia (PN), is a rare autosomal recessive condition with many associated complications and manifestations. Here we present a patient with confirmed PN who is of one‐quarter Chucktaw or Cherokee heritage with no known descent from the Navajo tribe. The patient's condition was complicated by chronic bilateral lower limb cellulitis and associated osteomyelitis which was unresponsive to extensive antibiotic regimens. Subsequent treatment with hyperbaric oxygen therapy (HBOT) was successful. To date, no author has reported on the treatment of recurrent cellulitis using HBOT in this patient population. Based on our experience, HBOT should be considered in patients with PN.

Defective monocyte plasticity and altered cAMP pathway characterize USB1‐mutated poikiloderma with neutropenia Clericuzio type

“…In summary, our studies show that a novel primary defect caused by hypofunctioning USB1 involves blood monocytes, which (1) show severe restriction of CD16 (FCγ3R) expression; (2) are fixed in a pro‐inflammatory configuration and are unable to transform to a wound healing phenotype in response to M‐CSF or IL‐34. We note that poor wound healing leading to severe local complications has been reported previously in subjects with PN 54,55 . These defects in monocyte plasticity may contribute to the multiple manifestations seen in the USB1 variant PN subjects and a defect in cAMP signalling may be the primary effect of the splicing errors caused by the hypofunctioning USB1 variant.…”

“…We note that poor wound healing leading to severe local complications has been reported previously in subjects with PN. 54,55 These defects in monocyte plasticity may contribute to the multiple manifestations seen in the USB1 variant PN subjects and a defect in cAMP signalling may be the primary effect of the splicing errors caused by the hypofunctioning USB1 variant. Finally, screening of CD14/CD16 expression profile in all haematopoietic disorders including VEXAS-like disorders may identify the yet undiscovered role of monocyte plasticity in disease causation.…”