Cytokine Expression In a Case Of Cutaneous Mastocytosis With An Unusual Presentation

Abstract

We experienced the case of a 10-year-old girl who presented with angioedma and facial nerve palsy possibly associated with the cutaneous mastocytosis. Her recurrent angioedema has presented since 4 year of age which was exacerbated by spicy foods or certain drugs. Therefore this study aims to investigate the relationship between cutaneous mastocytosis and patient serum cytokine expression during the episode of angioedema. Serum tryptase was checked. Skin biopsy was taken from the scalp and trunk lesions for histological examination. The immunofluorescence stain with CD 117 and genetic examination of KIT mutation was done on the infiltrating cells in the dermis. Individual cytokines were determined by human ELISA kit. Serum tryptase levels were elevated at 4, 9, and 10 years old respectively (51.5, 72.9, and 30 ng/mL). Mast cells densely infiltrated entire dermis , extending into subcutaneous fat. C-KIT mutation at codon 816 was negative. MRI showed possible involvement of facial nerve course in both side in temporal bone and no evidence of neurogenic tumor along 7th and 8thcranial nerve. Expression of inflammatory cytokines, such as TNF-a, TGF-b, IL-4, IL-5, IL-6, IL-13, was remarkably increased in patient’s serum versus those in normal serum and anti-inflammatory cytokine IL-10 was remarkably decreased in patient’s serum versus that in normal serum. Magnetic resonance image suggests that transient facial palsy is possibly caused by soft tissue swelling on parotid gland area associated with mastocytosis. And that cutaneous mastocytosis may be induced through down-regulating the expression of anti-inflammatory cytokine IL-10 and up-regulating the expression of various inflammatory cytokines.