Diagnosis and treatment of cutaneous mastocytosis in children: practical recommendations.

[cutaneous mastocytosis]

Cutaneous mastocytosis in children is a generally benign disease that can present at birth and is often associated with mast cell mediator-related symptoms including pruritus , flushing , and abdominal pain with diarrhea . The most common form of presentation is urticaria pigmentosa , also referred to as maculopapular mastocytosis . Flares of lesions are induced by triggers such as physical stimuli , changes in temperature , anxiety , medications , and exercise . The skin lesions are typically present on the extremities . Symptoms respond to topical and systemic anti-mediator therapy including antihistamines and cromolyn sodium . Remission at puberty is seen in a majority of cases . Progression to systemic mastocytosis with involvement of extracutaneous organs is not common . The cause of cutaneous mastocytosis is unknown and familial cases are rare . Mutations of c-kit have been observed in the skin of those affected . The diagnosis is established on clinical grounds and the findings on skin biopsy . Bone marrow studies are recommended if there is suspicion of progression of disease to an adult form , if cytoreductive therapy is contemplated , or if skin lesions remain present and /or tryptase levels remain elevated after puberty . The use of chemotherapy , including kinase inhibitors , is strongly discouraged unless severe hematologic disease is present , since malignant evolution is extremely rare .

Diseases
Validation

Diseases presenting "skin lesions" symptom

child syndrome

cowden syndrome

cutaneous mastocytosis

cystinuria

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

familial mediterranean fever

focal myositis

gm1 gangliosidosis

heparin-induced thrombocytopenia

hirschsprung disease

junctional epidermolysis bullosa

lamellar ichthyosis

liposarcoma

lymphangioleiomyomatosis

malignant atrophic papulosis

oligodontia

omenn syndrome

papillon-lefèvre syndrome

primary effusion lymphoma

proteus syndrome

severe combined immunodeficiency

sneddon syndrome

waldenström macroglobulinemia

werner syndrome

wiskott-aldrich syndrome

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