A rare case of adult-onset recurrence of mastocytosis decades after remission in childhood was recently described in The Journal of Dermatology.
Mastocytosis is characterized by the abnormal accumulation of mast cells in various tissues. When it occurs in children, it usually manifests with cutaneous (skin) symptoms and often improves or resolves by adolescence without systemic progression. In adults, it usually appears as systemic mastocytosis (SM).
Read more about SM signs and symptoms
The report highlights the clinical course of a 49-year-old woman who developed new skin eruptions more than 40 years after her initial childhood diagnosis of mastocytosis, which had spontaneously resolved. Recurrence after such a long symptom-free interval is extremely rare. Prior to this report, only two other adult relapses following childhood remission had been documented in the literature.
“Although the mechanism of re-occurrence of mastocytosis is unknown, there is a possibility that the present patient bears different genetic variants, responsible for pediatric- and adult onset mastocytosis,” the authors wrote.
The patient presented with gradually worsening brown spots (macules) and nodules on the trunk and extremities, which became more urticaria-like, accompanied by facial flushing and palpitations.
Her past medical history included a diagnosis of cutaneous mastocytosis at age five, along with dyslipidemia and anemia later in life. On examination, multiple brown oval and circular macules were noted, but no palpable infiltration. Bloodwork, including serum tryptase levels, was unremarkable.
Histopathological analysis of a skin biopsy from the thigh revealed a band-like infiltration of inflammatory cells in the upper dermis. The infiltrating cells showed characteristics of mast cells, confirming the recurrence of mastocytosis. Despite a recommendation for bone marrow biopsy to rule out SM, the patient declined further invasive testing and opted for local follow-up.
This case adds to the very limited pool of documented late relapses of mastocytosis. The mechanism behind this reactivation remains unclear.
“Further analysis is necessary to elucidate the possible mechanism of the development of adult mastocytosis with a previous history of childhood mastocytosis,” the authors wrote.
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