Challenging diagnosis of indolent systemic mastocytosis isolated to the GI tract

Abstract

Mastocytosis is a rare group of disorders that presents with heterogenous phenotypes depending on the organ system involved. In the absence of cutaneous involvement—mast cell aggregates that may present as papules, nodules or plaques—classically associated with indolent systemic mastocytosis (SM), the diagnosis of this rare condition is particularly challenging. When localised to the gastrointestinal (GI) tract, symptoms of indolent SM are often non-specific and mimic common conditions such as inflammatory bowel disease or irritable bowel syndrome. Diagnosis may be suspected by clinical presentation, but biopsy with histopathological analysis is necessary to confirm. We present a rare case of indolent SM without cutaneous features. In the absence of typical cutaneous features, indolent SM should be considered in the differential diagnosis of a patient with persistent GI symptoms refractory to medical treatment, as failure to do so can lead to delay in the appropriate diagnosis and treatment.

Delayed Diagnosis of Indolent Systemic Mastocytosis as the Cause of Unexplained Skin Rash: A Case Report

“…Mastocytosis manifestations range from spontaneously regressing skin rash to highly aggressive cancer, which may lead to multi-organ failure and poor outcomes [4,5]. Given the rarity of mastocytosis and the fact that skin rash can be a manifestation of different conditions and many doctors are not familiar with this disorder, an accurate diagnosis may be delayed, which may lead to serious consequences, including disease progression and life-threatening anaphylactoid reactions [6][7][8].…”