Figure 1
Lumbar Spine examination
Clinical History
consulted with fatigue, pruritus and icterus. Physical examination revealed brown, round cutaneous lesions on the trunk and limbs. Laboratory tests disclosed a definitely increased level of serum ferritine (1330mg/l). Ultrasonography demonstrated marked hepatosplenomegaly. Liver biopsy was suggestive for hemochromatosis. Skin biopsy of the brown cutaneous lesions was diagnostic for urticaria pigmentosa. Bone scintigraphy (99mTc-HDP) revealed increased uptake all over the skull, spine, femora and humeri. Subsequently, conventional radiographs were taken of these regions of interests.
Imaging Findings
A 48-year-old woman consulted with fatigue, pruritus and icterus. Physical examination reveals brown, round cutaneous lesions on trunk and limbs. Laboratory tests disclosed a definitely increased level of serum ferritine (1330mg/l). Ultrasonography demonstrated marked hepatosplenomegaly. Liver biopsy was suggestive for hemochromatosis. Skin biopsy of the brown cutaneous lesions was diagnostic for urticaria pigmentosa. Bone scintigraphy (99mTc-HDP) revealed increased uptake all over the skull, spine, femora and humeri. Subsequently, conventional radiographs were taken of these regions of interests. Bone marrow
puncture yielded hypercellular material (ratio of hematopoietic versus fatty tissue of 95 to 5%). This clearly fits with the diagnosis of urticaria pigmentosa on skin biopsy as both entities correlate with systemic mastocytosis.
Discussion
Systemic mastocytosis is a rare proliferative disorder affecting both men and women and starts in adult life. Multiple organ systems are involved, including skin (urticaria pigmentosa), liver, spleen, lymph nodes and skeleton.
The clinical features relate to the release of histamin and prostaglandins out of the mast cells, causing local urticaria, flushes, diarrhea and vomiting. Hematologic abnormalities include anemia, leukopenia, thrombocytopenia and eosinophilia. Mast cell proliferation in skeletal tissue may be asymptomatic, although pain and deformity secondary to pathologic fracture may be observed. Infiltration of mast cells into the bone marrow induces a granulomatous reaction with destruction and replacement of trabecular bone and adjacent new bone formation.
The radiographic findings are aspecific. Diffuse osteopenia is almost identical to that in osteoporosis, osteomalacia, hyperparathyroidism, sickle cell anemia, Gaucher's disease, and plasma cell myeloma. Diffuse osteosclerosis can also be observed in myelofibrosis, Paget's disease, and renal osteodystrophy. Multiple focal sclerotic lesions in systemic mastocytosis resemble the findings in skeletal metastasis, lymphoma and fibrous dysplasia. The combination of these different patterns, however, reduces the differential diagnosis and most likely suggests mastocytosis.
Differential Diagnosis List
Systemic mastocytosis
Final Diagnosis
Systemic mastocytosis
References
[1] Fallon MD, Whyte MP, Teitelbaum SL. Systemic mastocytosis associated with generalized ostopenia, histopathological characterization of skeletal lesions. Hum Pathol 1981 Sep;12(9):813-20. (PMID: 7309030)
[2] Poppel MH, Gruber WF, Silber R et al. The roentgen manifestations of urticaria pigmentosa (mastocytosis). AJR 1959; 82: 239-242.
[3] Ruther U, Nunnensick C, Waibel E et al. Osteoplastische Skelettver䀀nderungen bei systemische Mastozytose. Med Klin 1995; 90: 53-57. (PMID: 7885306)
Case information
| URL: | https://www.eurorad.org/case/865 |
| DOI: | 10.1594/EURORAD/CASE.865 |
| ISSN: | 1563-4086 |
Figure 2
Radiograph of the hip and proximal femur
Radiograph of the left hip and proximal femur demonstrates a rounded dense, sclerotic area near the inner border of the infratrochanteric region of the femoral shaft.
Radiograph of the hip and proximal femur
Radiograph of the left hip and proximal femur demonstrates a rounded dense, sclerotic area near the inner border of the infratrochanteric region of the femoral shaft.