In utero presentation of aggressive systemic mastocytosis in a neonate.

Mastocytosis is a clinically heterogenous disease characterized by mast cell hyperplasia in skin, bone marrow and/or visceral organs. Cutaneous mastocytosis is more frequently observed in children, whereas indolent systemic mastocytosis is more commonly observed in adults. Aggressive systemic presentation, particularly of the neonate, is exceptionally rare. We present a rare case of congenital aggressive systemic mastocytosis. The patient was a 37-week-old male, born by caesarean section owing to hepatosplenomegaly and ascites diagnosed in utero, who exhibited extensive cutaneous and systemic manifestations of mastocytosis at birth. Mutation analysis of c-KIT identified D816V mutation in exon 17. Although initial bilateral bone marrow aspirates demonstrated no mast-cell infiltrates or haematological neoplasm, subsequent bone-marrow biopsies postmortem exhibited multifocal mast-cell aggregates. Clinical course was complicated by bacteraemia and cardiorespiratory failure, leading to death at 10 weeks.

Diffuse Cutaneous Bullous Mastocytosis and Disseminated Intravascular Coagulation Postvaccination: A Case Report.

BACKGROUND: Diffuse cutaneous bullous mastocytosis is the most rare subtype of cutaneous mastocytosis, characterized by generalized skin infiltration with mast cells and blistering. OBJECTIVE: To increase the awareness of the natural history and potential adverse complications of this rare cutaneous condition. METHOD AND RESULTS: We report a case of a male diagnosed on day 7 of life with follow-up of his progression over 6 years. When he was 2.5 months old, he was admitted to hospital postvaccinations with a flare of his blistering that was complicated by disseminated intravascular coagulation and polyuric acute tubular necrosis. Blistering ceased at 3 years, but at 6 years, extensive urtication continued in response to known triggers and a suboptimal dose of mast cell membrane stabilizers and histamine-1 and -2 receptor antagonists. CONCLUSION: This case discusses the progression of this rare condition over 6 years and highlights the importance of reaching optimal pharmacologic blockage of histamine-1 and -2 receptors and stabilization of mast cell membranes in patients persistently experiencing ongoing pruritus, urtication, and flushing symptoms.

Neonatal cutaneous mastocytosis.

Neonatal cutaneous mastocytosis is rare infiltrative disorder of the skin. Though often asymptomatic, systemic features may be associated with any clinical pattern of the disorder at any age group. We present our experience with a 3 1/2 months old female child. She presented with recurrent eruption of tense bullae preceded by flushing, irritability since day 3 of life. Darier sign and dermatographism were present. Skin biopsy confirmed the case as urticaria pigmentosa which is the most common form of cutaneous mastocytosis. Investigation revealed deranged liver function. Child was given H1 antihistaminics and topical glucocorticoid. Family counselled about chance of anaphylaxis to various toxins and drugs and risk of development of systemic mastocytosis.

Diffuse cutaneous mastocytosis: report of a severe case with fatal outcome.

Diffuse cutaneous mastocytosis (DCM) is a rare variant of mastocytosis. We describe a case of DCM with a very severe presentation at birth and fatal outcome.