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Related Concept Videos

Graves Disease II: Pathophysiology01:24

Graves Disease II: Pathophysiology

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Graves’ disease is an autoimmune disorder characterized by the production of thyroid-stimulating immunoglobulins (TSI) that activate TSH receptors, leading to excessive synthesis and release of thyroid hormones (T3 and T4) and resulting in hyperthyroidism.Among all causes of hyperthyroidism, Graves’ disease is the most common and can happen at any age, though it is more frequent in women. It produces a hypermetabolic state with features such as weight loss, tachycardia, tremor,...
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Bone Disorders01:29

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Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
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Graves' Disease I: Introduction01:28

Graves' Disease I: Introduction

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Graves' disease is an autoimmune disorder that causes hyperthyroidism, or overactivity of the thyroid gland. It results from autoantibodies called thyroid-stimulating immunoglobulins (TSIs), which bind to thyroid-stimulating hormone (TSH) receptors, leading to overstimulation of hormone production and a hypermetabolic state.EtiologyAlthough considered idiopathic, Graves’ disease has well-established contributing factors. There is a strong genetic component, with increased prevalence...
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Lysosomal Hydrolases01:22

Lysosomal Hydrolases

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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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Spongy Bone01:09

Spongy Bone

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All bones comprise an outer layer of compact bone, and an interior made up of spongy bone tissue, also called cancellous or trabecular bone. In long bones, spongy bone tissue is mainly found in the interior of the epiphyses (broad ends of the bone).
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Compact Bone01:27

Compact Bone

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Most bones contain compact and spongy osseous tissue, but their distribution and concentration vary based on the bone's overall function.
Compact bone, also called cortical bone, is the denser, stronger of the two types of bone tissue. It is found under the periosteum and in the diaphyses of long bones, where it provides support and protection. The microscopic structural unit of compact bone is called an osteon, or haversian system. Each osteon is composed of concentric rings of calcified...
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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
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Extraosseous Gaucher cell deposition without adjacent bone involvement.

Brendan J Meyer1, Anne M Mills, Cree M Gaskin

  • 1Department of Radiology and Medical Imaging, University of Virginia Health System, Virginia, USA.

Skeletal Radiology
|June 23, 2014
PubMed
Summary
This summary is machine-generated.

Extraosseous Gaucher cell deposits are rare and can mimic cancer. This case highlights subcutaneous Gaucher masses in type III Gaucher disease, emphasizing their importance in differential diagnoses for soft tissue tumors.

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Area of Science:

  • Oncology
  • Genetics
  • Pathology

Background:

  • Gaucher disease is a lysosomal storage disorder with various complications.
  • Extraosseous Gaucher cell deposition is a rare manifestation, often mimicking malignant tumors.
  • Type III Gaucher disease presents with a wide spectrum of neurological and systemic involvement.

Observation:

  • A case of an 18-year-old female with known type III Gaucher disease presenting with a subcutaneous mass.
  • The mass was located in the soft tissues overlying the lower thoracic spine.
  • Radiological assessment showed no apparent bone involvement or lymphadenopathy.

Findings:

  • Histopathological examination confirmed Gaucher cell deposition in the subcutaneous tissue.
  • The mass was distinct from underlying bone structures, with intact thoracic spinous processes.
  • No continuity was observed with adjacent osseous or lymphatic structures.

Implications:

  • This case underscores that subcutaneous Gaucher cell deposits can occur independently of bone or lymph node involvement.
  • Gaucher cell deposition should be considered in the differential diagnosis of soft tissue masses in patients with Gaucher disease.
  • Early recognition and accurate diagnosis are crucial for appropriate management and to avoid misdiagnosis as malignancy.