Clinical and Laboratory Observation
Imatinib Mesylate in the Treatment of Diffuse Cutaneous Mastocytosis

Portions of this article were presented as a poster at the 11th Congress of the European Society of Pediatric Dermatology, Istanbul, Turkey, May 16-19, 2012 and Journées Dermatologiques de Paris, December 7-11, 2010.
https://doi.org/10.1016/j.jpeds.2012.08.035Get rights and content

Diffuse cutaneous mastocytosis is a less common but potentially life-threatening variant of childhood mastocytosis. Here we report 2 children with diffuse cutaneous mastocytosis in whom an activating somatic KIT mutation was detected. Treatment with imatinib, a KIT inhibitor, resulted in resolution of the lesions and were well tolerated by the patients.

Section snippets

Case 1

An 11-month-old girl was transferred to a tertiary center with a recurrent itchy erythematous, bullous, even hemorrhagic eruption involving the head, trunk, and upper arms. The rash worsened after the patient experienced an upper respiratory infection with fever (Figure). A positive Darier's sign was noted. The lesions had expanded gradually since the age of 3 months.

Immunohistochemistry analysis of a skin biopsy specimen revealed numerous CD117 (KIT)- and tryptase-positive cells, confirming

Case 2

A 3-month-old girl presented at the Department of Pediatric Dermatology with a very itchy, generalized urticarial eruption of neonatal onset. There were no associated systemic findings. Skin biopsy analysis confirmed the diagnosis of DCM (CD117-positive). Serum tryptase levels repeatedly exceeded 50 μg/L. Other blood tests, chest radiography, and abdominal ultrasound examinations were normal. The skin lesions did not respond to systemic antihistamines or topical or systemic corticosteroids.

Discussion

DCM is a rare variant of childhood mastocytosis that presents as diffuse infiltrative yellow-orange xanthogranuloma-like subcutaneous nodules or as a widespread urticarial eruption with bullae and redness.2 The clinical course of DCM is more severe than that of mastocytoma and maculopapulous mastocytosis (formerly urticaria pigmentosa) and can even be life-threatening,3 due to hypovolemic shock, mast cell leukemia, gastrointestinal hemorrhage, and cachexia.

Like other forms of pediatric

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    DCM is a rare variant of childhood mastocytosis that appears as diffuse infiltrative yellow-orange xanthogranuloma-like subcutaneous nodules, or as a widespread urticarial eruption with bullae and redness. The clinical course of DCM is more severe than that of mastocytoma and MPCM and can even be life-threatening, due to hypovolemic shock, mast cell leukemia, gastrointestinal hemorrhage, and cachexia [24]. A step by step diagnostic approach or chronic urticaria is recommended, starting from the patient history and physical examination, in order to better address the subsequent tests, some of which are performed to exclude severe systemic diseases (Table 3).

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Novartis provided the medication used to treat the children in this report. The authors declare no conflicts of interest.

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