Systemic mastocytosis

Case contributed by Amr Farouk
Diagnosis certain


Multiple cutaneous itchy spots, freckles, abdominal pain, skeletal pain, diarrhea and nausea.

Patient Data

Age: 18 years
Gender: Female

Multiple enlarged discrete lymph nodes involving bilateral lower deep cervical, bilateral axillary, mediastinal (namely superior mediastinal, pre-vascular, retro-caval, carinal, zygo-esophageal and aorto-pulmonary lymph nodes) and broncho-pulmonary (hilar) lymph nodes as well as abdominal lymph nodes (namely para-aortic, retro-peritoneal, periportal and mesenteric lymph nodes) as well as inguinal lymph nodes.

Hepatomegaly. Shrunken spleen (autosplenectomy). Thickening of the omentum and mesentery.

The examined skeleton showed sclerotic lesions of variable size diffusely distributed in the spinal column, the pelvis, shoulder girdle and hip region. Some of the lesions are poorly defined and some are well circumscribed.

Case Discussion

Skeletal abnormalities include, in decreasing frequency; osteopenia/osteoporosis, osteosclerosis, or a combination of both. Osteolytic lesions can be well or poorly demarcated and may be surrounded by a sclerotic zone. 

Common abdominal imaging findings associated with systemic mastocytosis are hepatosplenomegaly, retroperitoneal adenopathy, periportal adenopathy, mesenteric adenopathy, thickening of the omentum and the mesentery as well as ascites.

Less common abdominal findings included hepatofugal portal venous flow, Budd-Chiari syndrome, cavernous transformation of the portal vein, ovarian mass, and complications such as chloroma.

This patient diagnosis was confirmed by a skin biopsy showing a skin fragment with dense dermal collagen bundles, with papillary dark nuclei & scanty cytoplasm. Cells gave positive reaction to CD 117 and toluidine blue. Giemsa was negative. Picture consistent with mastocytosis.

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