Systemic mastocytosis

Case contributed by Dr Amr Farouk

Presentation

18 years old female patient with multiple cutaneous itchy spots, freckles, abdominal pain, skeletal pain, diarrhea & nausea.

Patient Data

Age: 18 years old
Gender: Female
Modality: CT

Multiple enlarged discrete lymph nodes involving bilateral lower deep cervicaxl, 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 & 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 toludine blue. Giemsa was negative. Picture consistent with mastocytosis.

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Case Information

rID: 41464
Case created: 2nd Dec 2015
Last edited: 22nd Dec 2015
Inclusion in quiz mode: Included

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