Osteopenia

What is Osteopenia?

Osteopenia is a decrease in bone mineral density below normal reference values, yet not low enough to meet the diagnostic criteria to be considered osteoporotic. What is the Pathology of Osteopenia? The pathology of osteopenia is: -Etiology: The etiology of…
Osteopetrosis

What is Osteopetrosis?

Osteopetrosis is a rare, hereditary, diffuse, and symmetric skeletal sclerosis caused by osteoclast dysfunction.  What is the Pathology of Osteopetrosis? The pathology of osteopetrosis is: -Etiology: The cause of osteopetrosis is osteoclastic dysfunction resulting from gene mutations in at least…
Osteogenesis Imperfecta

What is Osteogenesis Imperfecta?

Osteogenesis imperfecta is a genetic disorder of connective tissues caused by an abnormality in the synthesis or processing of type I collagen.  What is the Pathology of Osteogenesis Imperfecta? The pathology of osteogenesis imperfecta is: -Etiology: The cause of osteogenesis…
Thanatophoric Dysplasia

What is Thanatophoric Dysplasia?

Thanatophoric dysplasia is a severe autosomal dominant skeletal disorder characterized by a disproportionately small ribcage, extremely short limbs, and folds of extra skin on the arms and legs.  What is the Pathology of Thanatophoric Dysplasia? The pathology of thanatophoric dysplasia…
Achondroplasia

What is Achondroplasia?

Achondroplasia is a rare autosomal dominant genetic disorder characterized by a transmembrane mutation in the fibroblast growth factor receptor.  What is the Pathology of Achondroplasia? The pathology of achondroplasia is: -Etiology: The cause of achondroplasia is a point mutation. -Genes…
Developmental Disorders of Bone and Cartilage

What are Developmental Disorders of Bone and Cartilage?

Developmental disorders of bone and cartilage are pathologies that certain individuals are born with that affect cartilage or bone.  Developmental disorders of bone and cartilage include: AchondroplasiaAchondrogenesis type 2Brachydactyly types D and ECampomelic dysplasiaCleidocranial dysplasiaHolt-Oram syndromeHypochondroplasiaMetaphyseal dysplasia, Schmid type  Nail-patella syndrome Osteogenesis…
BONE PATHOLOGY

WHAT IS BONE PATHOLOGY?

Bone pathology is any disease or disorder that affects bone.  A bone pathologist specializes in a subspecialty of surgical pathology that deals with the diagnosis and feature of many bone diseases.
Fibromatosis

What is Fibromatosis?

Fibromatosis is the low grade’s infiltrative spindle cell neoplasm composed of fibroblasts and myofibroblasts. What is the Pathology of Fibromatosis? The pathology of fibromatosis is: -Etiology: The cause of fibromatosis may include surgery or trauma. -Genes involved: CTNNB1 mutation or…
Myofibroblastoma

What is Myofibroblastoma?

Myofibroblastoma is a benign spindle cell tumor of mammary stroma composed of fibroblasts and myofibroblasts. What is the Pathology of Myofibroblastoma? The pathology of myofibroblastoma is: -Etiology: The cause of myofibroblastoma is the pathogenetic role of hormones due to ER,…
Phyllodes Tumor

What is Phyllodes Tumor?

Phyllodes tumor is a biphasic fibroepithelial neoplasm with leaf-like epithelial (phyllodal) pattern and stromal proliferation. What is the Pathology of Phyllodes Tumor? The pathology of phyllodes tumor is: -Etiology: The cause of phyllodes tumor is currently unclear. -Genes involved: MED12…