Diffuse Cutaneous Mastocytosis and its potential comorbidities in pediatric patients – a case study.




Basha, Riyaz
Bowman, Paul
Hamby, Tyler


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Background: Mastocytosis is the pathologic proliferation and accumulation of mast cells in various tissues of the body. There are different forms of mastocytosis that can present in pediatric patients including systemic (SM), cutaneous (CM) and diffuse cutaneous mastocytosis (DCM). Both the CM and DCM forms have the potential to progress into SM as the patient reaches adulthood. Mastocytosis has been shown to be comorbid with joint pathologies including Ehlers-Danlos syndrome and inflammatory gastrointestinal conditions such as eosinophilic esophagitis. The greatest risk among patients with mastocytosis is anaphylaxis. Case information:A13-week-old male presented to his primary care physician with erythematous spots on his torso and arms, and was diagnosed with eczema. The spots grew and transformed morphologically over the next month and a referral to dermatology was made. Upon biopsy of the original lesion (on the torso), the diagnosis of DCM was made. Over the coming months, symptoms progressed and comorbidities—including joint hypermobility (diagnosed with Ehlers-Danlos syndrome), dysphagia and diarrhea—arose. The patient broke his distal radius while crawling, due to his mast cell disorder and severe vitamin D deficiency. Conclusions: In most children with DCM, symptoms will partially or fully resolve by adolescence. But for some patients, the disease can progress to SM. Numerous comorbidities can occur, as did in this case. Current treatment strategies are wide ranging, from topical glucocorticoids to specialized UV radiating therapy. The specific approaches to this disease are still being understood, with recent investigations into immunological treatment modalities. The individuality of each case is crucial for health care professionals to recognize.