Granulomatous Variant of Giant Centrifugal Miliaria Profunda in an 8-Month-Old Boy: Expanding the Dermatologic Phenotype of Cardiofaciocutaneous Syndrome

Abstract

Miliarias are a group of eccrine disorders characterized by sweat retention due to the occlusion of eccrine ducts. Miliaria profunda is the rarest form of miliaria and occurs when eccrine ducts are obstructed at the dermal-epidermal junction. A granulomatous variant of centrifugal miliaria profunda classic findings of granulomatous infiltrate on histology and centrifugal expansion of deep nodules or plaques. We report a rare case of the granulomatous variant of centrifugal miliaria in an 8-month-old boy, with associated cardiofaciocutaneous syndrome (CFCS) due to a pathogenic MAP2K1 germline variant.

Keywords: dermatopathology; developmental defects; genetic diseases/mechanisms.