A Case Series of Two Bone Disorders: Rare Presentations

Abstract Osteopetrosis, also known as “marble bone disease,” is a group of rare genetic disorders caused by osteoclast failure, which ranges widely in severity. Osteopetrosis presents with a varied spectrum ranging from craniofacial abnormalities such as frontal bossing and nerve compression, visual defects to organomegaly and anemia attributed to extramedullary hematopoiesis due to bone marrow failure, which can be life-threatening. Similarly, hypercalcemia can trigger acute pancreatitis, with primary hyperparathyroidism being the most common cause. While rare, hypercalcemia from multiple myeloma can also lead to this condition. Herein, we present two interesting cases with unusual presenting complaints pertaining to these respective disorders, where timely diagnosis and intervention were lifesaving.

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Publication Details

Journal
Journal of Applied Sciences and Clinical Practice
Published
2025-09-01
DOI
https://doi.org/10.4103/jascp.jascp_5_25
Primary Topic
Dermatological and Skeletal Disorders
Type
article
Field-Weighted Citation Impact
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article

A Case Series of Two Bone Disorders: Rare Presentations

Journal of Applied Sciences and Clinical Practice
Dermatological and Skeletal Disorders
article

A Case Series of Two Bone Disorders: Rare Presentations

article en

Abstract

Abstract Osteopetrosis, also known as “marble bone disease,” is a group of rare genetic disorders caused by osteoclast failure, which ranges widely in severity. Osteopetrosis presents with a varied spectrum ranging from craniofacial abnormalities such as frontal bossing and nerve compression, visual defects to organomegaly and anemia attributed to extramedullary hematopoiesis due to bone marrow failure, which can be life-threatening. Similarly, hypercalcemia can trigger acute pancreatitis, with primary hyperparathyroidism being the most common cause. While rare, hypercalcemia from multiple myeloma can also lead to this condition. Herein, we present two interesting cases with unusual presenting complaints pertaining to these respective disorders, where timely diagnosis and intervention were lifesaving.

Journal of Applied Sciences and Clinical PracticeVol. 6(3)
Jawaharlal Nehru Medical College Hospital (IN)
Openalex Percentile: Top 26%
Dermatological and Skeletal Disorders
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