CHILDHOOD MASTOCYTOSIS NEW DEVELOPMENTS IN DIAGNOSIS AND TREATMENT

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DIFFERENTIAL DIAGNOSIS OF CHILDHOOD MASTOCYTOSIS

Mehmet Kılıç

Fırat University, Faculty of Medicine, Department of Pediatric Immunology and Allergy Diseases, Elazığ, Türkiye

Kılıç M. Differential Diagnosis of Childhood Mastocytosis. In: Özdemir Ö, editor. Childhood Mastocytosis: New Developments in Diagnosis and Treatment. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.75-89.

ABSTRACT

Cutaneous mastocytosis (CM) is divided into three subgroups based on the appearance of skin lesions: maculopapular cutaneous mastocytosis (MPCM), diffuse cutaneous mastocytosis (DCM), and cuta- neous mastocytoma. Although maculopapular rash is the most common, skin findings such as bullae, nodules, plaques, erythema, and telangiectasia can also be observed. However, similar-looking lesions can also be determined in other dermatological diseases. Therefore, the diseases in the differential diagnosis should be investigated in detail before diagnosing pediatric CM. In pediatric CM cases, the rash character can sometimes vary greatly, making diagnosis difficult. In pediatric CM cases, diagnosis is usually based on the typical appearance of the skin lesions, positive Darier sign, increased serum tryptase levels, and/or histology of the lesional skin. The Darier sign should always be checked during skin examination. Even if it is known that the Darier sign is pathognomonic when it is strongly positive in CM cases, it should not be forgotten that the pseudo-Darier sign can also be determined in some skin diseases other than CM. In addition, serum tryptase levels, an indicator of mast cell load, are rarely found to be elevated in pediatric CM cases. A skin biopsy should confirm the diagnosis in all cases where the clinical diagnosis is uncertain and if the Darier sign is nondiagnostic or negative. If patho- logic examination does not definitively reveal CM, another alternative diseases should be rethought. Skin lesions in MPCM are heterogeneous, so the differential diagnosis list is long. The differential diagnosis should include multiple lentigo, multiple juvenile xanthogranuloma, generalized eruptive histiocytoma, Langerhans cell histiocytosis, hemophagocytic lymphohistiocytosis, fixed drug erup- tion, postinflammatory hyperpigmentation, pigmented nevus, pityriasis versicolor, dermatofibroma, xanthomas, lichen planus pigments, erythema dyschromicum perstans, cafe-au-lait macules, cutaneous leiomyomas, atopic dermatitis, insect bites, and chronic urticaria. MPCM can be distinguished from these diseases if the Darier sign is positive. In children, juvenile xanthogranuloma or smooth muscle hamartoma is often misdiagnosed as mastocytoma and vice versa. In young children, bullous rashes may be seen in DCM and occasionally in very young infants with disseminated MPCM, but bullous lesions may also occur in children with epidermolysis bullosa, bullous impetigo, linear IgA disease, or early incontinence pigmentosa.

Keywords: Child; Mastocytosis; Cutaneous; Diagnosis; Differential diagnosis

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