The Familial Occurrence of Bullous Mastocytosis (Diffuse Cutaneous Mastocytosis)

Abstract

We studied four patients (a mother, her two daughters, and her son) with bullous mastocytosis, or diffuse cutaneous mastocytosis, whose genetic inheritance suggested an autosomal dominant pattern. The clinical characteristics included extensive bullae, numerous urticaria, pruritus, flushing, and pseudolichenified skin over all body surfaces without systemic organ involvement. The histopathologic findings disclosed a pronounced accumulation of mast cells in the dermis. Electron microscopic studies of lesional skin obtained in infancy showed round or spindle-shaped mast cells with numerous fingerlike villous protrusions. The cytoplasmic granules varied in size and shape, and the appearance of degranulation was markedly noted. In the adult, most mast cells had markedly decreased numbers of granules and cytoplasmic villi. Some cells displayed degenerative or necrotic appearances. These findings correlated well with the clinical course of these cases, which improved spontaneously over time.

Diffuse Erythrodermic Cutaneous Mastocytosis with Bone Marrow Infiltration

“…Since it is often associated with systemic mastocytosis, multiple organs may be affected [1][2][3]. In our case, diffuse érythro dermie cutaneous mastocytosis was associated with bone marrow involvement.…”

“…It was found that histamine-1-or histamine-2-blocking agents [3,8], cro molyn sodium [9] and topical steroid ointments [ 10] can be effective in relieving the symptoms. Since antihistaminic treatment was not effective in our case, ketotifen was added to her treatment, because it has been found effective in some patients with mastocytosis [11,12].…”

“…Ketotifen may inhibit mast cell degranulation, block histamine 1 receptors and inhibit leukocyte release of slow-reacting substance of anaphylaxis [ 12], When our patient had fresh lesions at the end of the first month, only ketotifen administration had appreciable effects; for the next 7 months she had no major complaints. Since it has been reported that children whose disease persists in adulthood appear likely to develop mul tiple systemic involvement and might develop a malig nancy [3,[5][6][7], we will carefully follow up our patient.…”

“…The skin is often directly involved in mastocytosis, with or without internal organ involvement. Diffuse cutaneous mastocytosis is a very rare variety of mast cell disorders and frequently associated with systemic mastocytosis [1][2][3]. No specific treatment is really satisfac tory in mastocytosis, and different agents can be adminis tered.…”

Bull�se Mastozytose bei einem Kind

“…Differentialdiagnostisch muß an Dermatitis herpetiformis, bullöse Impetigo, chronisch bullöse Erkrankung miliäres Vorkommen (autosomal-dominant) [14], solitär noduläre und multiple makulopapulöse sowie diffuse bullöse Formen wurden beobachtet [2,4,17]. Die Blasen entstehen offensichtlich durch Freisetzung biologisch aktiver Substanzen [1, 3] aus Granula der Mastzellen, die mittels Giemsa-und Toluidinblaufärbung histologisch nachgewiesen wurden.…”