BACKGROUND AND OBJECTIVE: Systemic mastocytosis is a rather rare disorder involving the skin and several other organs. The aim of this study was to analyse the extent of extracutaneous manifestations in 14 adult patients who presented with prominent cutaneous involvement within the last 5 years. RESULTS: The cutaneous lesions were clinically diagnosed as telangiectasia macularis eruptiva perstans in 2 patients, urticaria pigmentosa of varying extent in 11 and diffuse erythrodermic mastocytosis in 1 patient. All patients had extracutaneous manifestations with involvement of one additional organ system in 6/14 cases, two in 5/14 and three in 3/14. Ten out of 14 patients suffered from generalized pruritus, and 11/14 reported mild wheal formation, while 3/14 with multi-organ involvement mentioned recurrent flushing episodes. The gastro-intestinal tract was involved in 8/14 cases with an increase in gastric and colon mucosal mast cells in 5/8 cases and gastroduodenitis in 2. Bone marrow involvement was seen in 7/13 patients, hepatosplenomegaly in 2, anaemia in 2 and thrombocytopenia in 3. The disease had a duration of 0.5-32 years, clinical symptoms remaining basically unchanged. Malignant transformation was not seen; only 1 patient developed myelodysplastic syndrome within 2 years after the first cutaneous lesions. CONCLUSIONS: Our study shows that extracutaneous involvement should be carefully considered in adult patients with cutaneous mastocytosis. Systemic multi-organ mast cell disease in adults is a long-lasting disorder with recurrent episodes of varying clinical symptomatology. However, the disease shows rather slow progression, and malignant transformation is rare. Satisfactory management is achieved by symptomatic oral drug intake.
BACKGROUND AND OBJECTIVE: Systemic mastocytosis is a rather rare disorder involving the skin and several other organs. The aim of this study was to analyse the extent of extracutaneous manifestations in 14 adult patients who presented with prominent cutaneous involvement within the last 5 years. RESULTS: The cutaneous lesions were clinically diagnosed as telangiectasia macularis eruptiva perstans in 2 patients, urticaria pigmentosa of varying extent in 11 and diffuse erythrodermic mastocytosis in 1 patient. All patients had extracutaneous manifestations with involvement of one additional organ system in 6/14 cases, two in 5/14 and three in 3/14. Ten out of 14 patients suffered from generalized pruritus, and 11/14 reported mild wheal formation, while 3/14 with multi-organ involvement mentioned recurrent flushing episodes. The gastro-intestinal tract was involved in 8/14 cases with an increase in gastric and colon mucosal mast cells in 5/8 cases and gastroduodenitis in 2. Bone marrow involvement was seen in 7/13 patients, hepatosplenomegaly in 2, anaemia in 2 and thrombocytopenia in 3. The disease had a duration of 0.5-32 years, clinical symptoms remaining basically unchanged. Malignant transformation was not seen; only 1 patient developed myelodysplastic syndrome within 2 years after the first cutaneous lesions. CONCLUSIONS: Our study shows that extracutaneous involvement should be carefully considered in adult patients with cutaneous mastocytosis. Systemic multi-organ mast cell disease in adults is a long-lasting disorder with recurrent episodes of varying clinical symptomatology. However, the disease shows rather slow progression, and malignant transformation is rare. Satisfactory management is achieved by symptomatic oral drug intake.
Authors: Leona A Doyle; Golrokh J Sepehr; Matthew J Hamilton; Cem Akin; Mariana C Castells; Jason L Hornick Journal: Am J Surg Pathol Date: 2014-06 Impact factor: 6.394