The Skin in Mastocytosis

Abstract

The most frequent site of organ involvement in patients with any form of mastocytosis is the skin. Cutaneous expressions include urticaria pigmentosa, mastocytoma, diffuse and erythrodermic cutaneous mastocytosis, and telangiectasia macularis eruptiva perstans. The cutaneous lesions tend to appear early in life. Although urticaria pigmentosa has been reported in 12 pairs of twins and one set of triplets, the majority of affected individuals have no familial association. Most patients with systemic mastocytosis have skin lesions; however, an occasional patient will have systemic disease with no other skin features than flushing. In lesional cutaneous sites and in non-lesional skin, there is an increase in the number of mast cells. Electron microscopy shows quantitative differences between lesional skin mast cells from patients with and without systemic disease. The mast cells from adult patients with systemic disease have a larger mean cytoplasmic area, nuclear size, and granule diameter. The granules contain predominantly grating/lattice structures. The cutaneous mast cells contain tryptase and chymase. They retain their functional reactivities to relevant secretory stimuli, such as C3a, morphine sulfate, and calcium ionophore A23187. Lesional skin contains histamine, leukotriene B4, prostaglandin D2, 5-hydroxyeicosatetraenoic acid, platelet-activating factor, and heparin. Treatment of the cutaneous manifestations includes the use of H1 and H2 antihistamines, oral disodium cromoglycate, psoralens plus ultraviolet A photochemotherapy, and potent topical corticosteroid preparations.

Urticaria pigmentosa: aspectos clínicos y terapéuticos para el pediatra

“…En general, las lesiones van apareciendo progresivamente en brotes, con una distribución aleatoria y simétrica; a veces, forman un patrón de tipo "leopardo". 19,20 En manera similar a las urticarias agudas (UA), estas lesiones presentan un componente hiperémico y pueden acompañarse de prurito; sin embargo, a diferencia de las UA, las lesiones de la UP son fijas, duran más de 24 horas y no aparecen y desaparecen en diferentes localizaciones. El signo de Darier, que consiste en la aparición de habones en la piel ante la fricción de las lesiones, es altamente sensible y específico (patognomónico) de las MC, y se encuentra positivo en un 70%-90% de estas.…”

Mastocytosis with skin manifestations: current status

“…This is characterized by the progressive appearance, on the trunk and the limbs, and less frequently on the face and the scalp -of erythematous, pruritic, urticaria1 papules which consequently become pigmented (the diameter of lesions varies from a few mm to a few cm), palpable or non, forming a 'leopard-like' pattern [55]. 'Darier's sign' is pathognomonic and is characterized by the appearance of urtication, after scratching or friction.…”

“…The dermal infiltrate contains round, oval or spindle-shaped cells, distributed around pilosebaceous follicles or the eccrine sweat glands in the reticular dermis (sometimes extending into the subcutaneous tissue) [30,40,55]. The above cells are filled with cytoplasmic granules, which are red-purple by toluidine blue staining, red by PAS or by Giemsa, orange by safranine [57].…”

Urticaria Pigmentosa:A Clinical, Hematopathologic, and Serologic Study of 30 Adults

“…It is characterized by reddish-brown, macular, papular, or maculopapular lesions (Fig 1) that may show a wheal and flare reaction after stroking, known as Darier's sign. 2 Histologically, UP is defined by focal dermal accumulations of mast cells (more than fivefold above normal; Fig 2). An infantile and an adult form of UP are distinguished; the infantile form bears a more favorable prognosis.…”

“…Regression of most skin lesions occurs in 80% of pediatric patients by puberty 3 -4 Less common forms of cutaneous mastocytosis include mastocytomas and diffuse erythrodermatic mastocytosis, both usually occurring during the first 24 months of life, and the rare form of telangiectasia macularis eruptiva perstans. 2,5 In all types of mastocytosis, skin symptoms are much more common than systemic manifestations. Cutaneous lesions nevertheless may be associated with almost any type of systemic mastocytosis according to a recent National Institutes of Health classification by Metcalfe,6 based on an earlier scheme by Travis et al 7 In this classification, systemic mastocytosis is divided into four groups according to clinical features and prognosis (ie, indolent mastocytosis, mastocytosis with associated hematologic disorder, mast cell leukemia, and lymphadenopathic mastocytosis with eosinophilia).…”