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.
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.
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.
Systemic mastocytosis
Based on the provided X-ray images of the lumbar spine and hip, the following main features are observed:
• The vertebral bodies show heterogeneous density changes; some display focal sclerotic lesions, and there is also a tendency toward diffuse osteoporosis.
• The trabecular pattern is blurred, and there is no marked thickening of the cortical and cancellous boundary, yet parts of the bony structure appear to be destroyed or replaced.
• Around the hip joint, similar density changes are noted: reduced bone density combined with scattered sclerotic areas.
• Bone scintigraphy (99mTc-HDP) suggests widespread increased radiotracer uptake in the skull, spine, and long bones, indicating active or infiltrative bone metabolism throughout the body.
These radiological characteristics suggest a complex abnormality of bone metabolism or infiltrative process. Combined with clinical findings (elevated serum ferritin, hepatosplenomegaly, and skin lesions), a systemic disease is strongly indicated.
Based on imaging and the patient's history, the following possibilities or differential diagnoses can be considered:
1) Systemic Mastocytosis:
• The patient presents with brownish skin lesions (skin biopsy shows urticaria pigmentosa-like findings), hepatosplenomegaly, and diffuse skeletal involvement, consistent with the proliferation and infiltration of mast cells in multiple organ systems.
• Imaging may reveal osteoporosis, focal sclerosis, and bone pain as part of the clinical or radiological manifestations.
2) Bone Metastases, Lymphoma, or Myeloid Tumors:
• Multiple sclerotic lesions or diffuse bone destruction are often seen in malignant bony metastases, lymphoma, or multiple myeloma. However, in this case, elevated ferritin and cutaneous mast cell proliferation are distinct findings that make these etiologies less typical.
3) Other Bone Metabolic or Storage Disorders (e.g., hyperphosphatasia, Gaucher disease):
• Radiologically, alterations in trabecular structure, osteoporosis, or sclerosis can produce similar images. However, when considering the patient’s skin lesions and histopathology, a mast cell-related etiology is more likely.
Taking into account the patient’s:
• Age (48 years, adult onset),
• Clinical symptoms (fatigue, pruritus, jaundice, hepatosplenomegaly, etc.),
• Laboratory tests (markedly elevated serum ferritin),
• Skin and liver biopsies (showing urticaria pigmentosa-like changes and pathology associated with mastocytosis),
• Bone scintigraphy and imaging findings (extensive bone changes, multiple areas of increased tracer uptake),
The most likely diagnosis is: Systemic Mastocytosis.
Further confirmation may require a bone marrow biopsy or special staining (e.g., mast cell staining, genetic testing) to support the diagnosis.
Treatment Strategy:
1) Medication:
• Commonly, H1 and H2 receptor blockers are used to relieve symptoms related to histamine release (such as pruritus, flushing, and gastrointestinal discomfort).
• In cases with significant skeletal involvement or marked blood cell abnormalities, glucocorticoids or cytotoxic agents (e.g., interferon-α) may be considered to control mast cell proliferation.
• Liver protection and supportive care should be provided; if iron overload is present, evaluate the use of iron chelators.
2) Avoidance of Triggering Factors:
• Avoid known allergens or irritants (such as certain medications, alcohol, extreme temperature changes) to reduce the risk of mast cell degranulation crises.
3) Surgical Intervention:
• Generally not the first choice. It may be considered if a pathological fracture of the affected bone, severe deformity, or significant compressive symptoms occur.
Rehabilitation and Exercise Prescription:
• Rehabilitation Principles: Emphasize a gradual and individualized approach to exercise. Because both osteoporosis and local sclerosis may coexist, excessive loading and high-impact activities should be avoided to reduce the risk of pathological fractures.
• Types of Exercise: Begin with low-impact aerobic activities (such as brisk walking on flat ground, elliptical training, swimming), combined with light-to-moderate resistance training (resistance bands or low-load machines).
• FITT-VP Principles:
1. Frequency: 3–5 days of aerobic exercise per week, plus resistance training 2–3 times per week.
2. Intensity: In the initial phase, maintain low to moderate intensity (RPE 9–11), gradually increasing based on individual tolerance.
3. Time: 20–30 minutes per aerobic session. Resistance training may start at 1–2 sets of 10–12 repetitions each session, gradually increasing sets and reps as tolerated.
4. Type: Avoid high-impact activities such as running or jumping; choose gentle aerobic exercises combined with low-load resistance training.
5. Progression: As symptoms and bone status improve, progressively increase resistance and diversify exercises under professional guidance, while closely monitoring pain and bone density changes.
6. Volume and Progression: Increase overall exercise volume and intensity within safe limits. If significant discomfort or pain occurs, reduce or pause activity.
• Special Considerations:
• If there is extensive bone marrow infiltration, the risk of fragile bones and anemia increases. Regular monitoring of blood counts, bone density, and related biochemical markers is essential.
• Ensure adequate calcium and vitamin D intake to support bone health; supplementation with other trace elements or medications should follow medical advice.
This report is a preliminary analysis based on the available clinical and radiological data and does not replace an in-person consultation or formal diagnosis and treatment advice from a professional medical institution. The patient should undergo further specialized examinations and comprehensive evaluations by a specialist to determine the final therapeutic plan.
Systemic mastocytosis