Candidiasis familial chronic mucocutaneous- autosomal recessive

Overview

Chronic mucocutaneous candidiasis (CMC) refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial infections of the skin, mucous membranes, and nails with Candida organisms, usually Candida albicans. These disorders are confined to the cutaneous surface, with little propensity for systemic dissemination. CMC does not represent a specific disease, but rather a phenotypic presentation of a spectrum of immunologic, endocrinologic, and autoimmune disorders.

Symptoms

patients exhibit increased susceptibility of skin, nails, and mucous membranes to infections by Candida albicans and dermatophyte fungi, mainly of the genera Trichophyton and Microsporum.

Causes

CMC occurs in a heterogeneous group of patients with a wide spectrum of immune dysregulation, ranging from Candida -specific decreased immunity to a broader immune defect.

Diagnosis

CMC is diagnosed based on physical examination findings, potassium chloride (KOH) preparation results, fungal culture, and a history of recurrent and refractory candidiasis infections. Oral examination may reveal the white adherent plaques of thrush or the angular cheilitis of perl├Ęche. Oral involvement may extend to the esophagus, but further extension is extremely uncommon. Nails may be markedly thickened, fragmented, and discolored, with significant edema and erythema of the surrounding periungual tissue, simulating clubbing