Uwe Kölsch, Germany
Labor Berlin - Charité Vivantes ImmunologyPresenter of 1 Presentation
ACNE INVERSA AS LEADING SIGN OF P40PHOX-DEFICIENCY
Abstract
Background and Aims
Heterogenous defects of the NADPH-complex are known to cause chronic granulomatous disease (CGD). Recently described autosomal recessive p40phox-deficiency is a related but distinct entity. Patients with p40phox-deficiency may remain asymptomatic or most often present with a lupus like inflammatory skin or bowel disease and arthritis (1).
Methods
A 17-year-old girl of consanguineous parents was suffering from therapy resistant acne inversa-type lesions from the age of 7 and a mild polyarthitis. In addition to typical inflammatory nodules, abcess formation and scaring in the axillae and inguinal areas, she developed a markedly disseminated pustulosis on her trunk. Atypical bacteria could be extracted from skin lesions (E. coli, Enterococcus faecalis, Pseudomonas aeruginosa, Staph. aureus (Methicillin sensible, PVL negative) and Staph. Epidermitis). Retinoid medication resulted in partial stabilization, but had to be discontinued due to side effects. While dapson treatment was ineffective, improvement was achieved by combination of clindamycin and rifampicin-treatment over several months. Her brother showed milder but comparable symptoms. Therefore an genetically defined immune defect was suspected. As the only finding production of reactive oxygen species in neutrophils was present but repeatedly below the first 1% percentile of the normal ranges upon stimulation with PMA and E. coli.
Results
A homozygous mutation NCF4 p.R57H, resulting in a modified p40phox protein, was identified in whole exome sequencing.
Conclusions
Patients with “acne inversa” or any similar inflammatory skin disease should be investigated for p40phox deficiency or another NADPH defect with residual function
Van de Geer et al, J Clin Investigation, 2018