Cutaneous mastocytosis: A dermatological perspective

Abstract

Mastocytosis is a rare disease characterised by expansion and collection of clonal mast cells in various organs including the skin, bone marrow, spleen, lymph nodes and gastrointestinal tract. The prevalence of mastocytosis has been estimated to be one in 10 000, while the estimated incidence is one per 100 000 people per year. Cutaneous mastocytosis is classified into (i) maculopapular cutaneous mastocytosis, also known as urticaria pigmentosa; (ii) diffuse cutaneous mastocytosis; and (iii) mastocytoma of the skin. In adults, cutaneous lesions are usually associated with indolent systemic mastocytosis and have a chronic evolution. Paediatric patients, on the contrary, have often cutaneous manifestations without systemic involvement and usually experience a spontaneous regression. Diagnosis of cutaneous mastocytosis may be challenging due to the rarity of the disease and the overlap of cutaneous manifestations. This short review describes pathogenesis and clinical aspects of cutaneous mastocytosis with a focus on diagnosis and currently available therapies.

La neurotoxine dérivée des éosinophiles (EDN) : intérêt du dosage dans les pathologies mastocytaires

“…Cliniquement on retrouve des lésions maculeuses ou papuleuses rougeâtres ou brunâtres situées essentiellement au niveau du tronc ; Ces lésions sont le plus souvent positives pour le phénomène de Darier, c'est-à-dire qu'elle deviennent urticantes en cas de frottement mécanique (85). L'urticaria pigmentosa disparait le plus souvent avant l'âge adulte.…”

Mastocytosis—A Review of Disease Spectrum with Imaging Correlation

“…CM is subclassified by the WHO into three main categories: urticaria pigmentosa (UP), diffuse cutaneous mastocytosis, and mastocytoma of the skin [16]. UP is the most common form of CM, and it presents as yellow to brown maculopapular lesions on the trunk and extremities, often sparing the face, palms, and soles.…”

“…UP lesions can have a myriad of characteristics and differ based on age of the patient at diagnosis. They are polymorphic with various shapes and colors in children, and tend to be monomorphic in adults [12,16]. Polymorphic lesions are more prominent and usually fade with age.…”

“…Another variant, mastocytoma, starts at an early age and rarely affects adults. It presents with a solitary macule or papule and may involve the palms and soles [16]. All types of CM are typically diagnosed by the presence of mast cells on skin biopsy [12].…”

“…Cutaneous manifestations of mastocytosis are better evaluated on dermatologic exam and histopathology. These changes are due to focal inflammatory process related to mast cell infiltration of the skin [16]. Radiographically, mild cutaneous or subcutaneous edema can be seen in a setting of superficial thrombophlebitis which can occur in cases of SM (Figure 8).…”