Osseous haemophilic pseudotumour and concurrent primary hyperparathyroidism

a diagnostic conundrum

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Pseudotumours are rare, occurring in 1-2% of severe haemophiliacs. Osseous locations are far less frequent than soft tissue location. We report a case of a 43-year-old man with haemophilia A, who presented with a gradually enlarging left thigh mass for 8 months. There were no constitutional symptoms. Plain radiograph showed an expansile lytic lesion with 'soap-bubble' appearance arising from the left femur diaphysis. On MRI, it appeared as a non-enhancing, multilobulated lesion expanding the medullary and subperiosteal spaces. The mass exhibited concentric ring sign with heterogeneous intermediate signal intensity in the core lesion, reflective of chronic haematoma with blood degradation products of different stages. A diagnosis of haemophilic pseudotumour was made. Hypercalcaemia, however, raised a diagnostic dilemma as bone malignancy needed to be considered. An open excisional biopsy and subsequent amputation confirmed the diagnosis of osseous haemophilic pseudotumour. Nuclear medicine study later revealed a concurrent parathyroid adenoma.

Original languageEnglish
JournalBMJ Case Reports
Volume2014
DOIs
Publication statusPublished - 2014

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Primary Hyperparathyroidism
Diaphyses
Soaps
Parathyroid Neoplasms
Nuclear Medicine
Hemophilia A
Hypercalcemia
Thigh
Amputation
Hematoma
Femur
Biopsy
Bone and Bones
Neoplasms

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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title = "Osseous haemophilic pseudotumour and concurrent primary hyperparathyroidism: a diagnostic conundrum",
abstract = "Pseudotumours are rare, occurring in 1-2{\%} of severe haemophiliacs. Osseous locations are far less frequent than soft tissue location. We report a case of a 43-year-old man with haemophilia A, who presented with a gradually enlarging left thigh mass for 8 months. There were no constitutional symptoms. Plain radiograph showed an expansile lytic lesion with 'soap-bubble' appearance arising from the left femur diaphysis. On MRI, it appeared as a non-enhancing, multilobulated lesion expanding the medullary and subperiosteal spaces. The mass exhibited concentric ring sign with heterogeneous intermediate signal intensity in the core lesion, reflective of chronic haematoma with blood degradation products of different stages. A diagnosis of haemophilic pseudotumour was made. Hypercalcaemia, however, raised a diagnostic dilemma as bone malignancy needed to be considered. An open excisional biopsy and subsequent amputation confirmed the diagnosis of osseous haemophilic pseudotumour. Nuclear medicine study later revealed a concurrent parathyroid adenoma.",
author = "Low, {Soo F in} and Radhika Sridharan and Ngiu, {Chai Soon} and Haflah, {Nor Hazla Mohamed}",
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language = "English",
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T1 - Osseous haemophilic pseudotumour and concurrent primary hyperparathyroidism

T2 - a diagnostic conundrum

AU - Low, Soo F in

AU - Sridharan, Radhika

AU - Ngiu, Chai Soon

AU - Haflah, Nor Hazla Mohamed

PY - 2014

Y1 - 2014

N2 - Pseudotumours are rare, occurring in 1-2% of severe haemophiliacs. Osseous locations are far less frequent than soft tissue location. We report a case of a 43-year-old man with haemophilia A, who presented with a gradually enlarging left thigh mass for 8 months. There were no constitutional symptoms. Plain radiograph showed an expansile lytic lesion with 'soap-bubble' appearance arising from the left femur diaphysis. On MRI, it appeared as a non-enhancing, multilobulated lesion expanding the medullary and subperiosteal spaces. The mass exhibited concentric ring sign with heterogeneous intermediate signal intensity in the core lesion, reflective of chronic haematoma with blood degradation products of different stages. A diagnosis of haemophilic pseudotumour was made. Hypercalcaemia, however, raised a diagnostic dilemma as bone malignancy needed to be considered. An open excisional biopsy and subsequent amputation confirmed the diagnosis of osseous haemophilic pseudotumour. Nuclear medicine study later revealed a concurrent parathyroid adenoma.

AB - Pseudotumours are rare, occurring in 1-2% of severe haemophiliacs. Osseous locations are far less frequent than soft tissue location. We report a case of a 43-year-old man with haemophilia A, who presented with a gradually enlarging left thigh mass for 8 months. There were no constitutional symptoms. Plain radiograph showed an expansile lytic lesion with 'soap-bubble' appearance arising from the left femur diaphysis. On MRI, it appeared as a non-enhancing, multilobulated lesion expanding the medullary and subperiosteal spaces. The mass exhibited concentric ring sign with heterogeneous intermediate signal intensity in the core lesion, reflective of chronic haematoma with blood degradation products of different stages. A diagnosis of haemophilic pseudotumour was made. Hypercalcaemia, however, raised a diagnostic dilemma as bone malignancy needed to be considered. An open excisional biopsy and subsequent amputation confirmed the diagnosis of osseous haemophilic pseudotumour. Nuclear medicine study later revealed a concurrent parathyroid adenoma.

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