22 terms in musculoskeletal & dermatology
Most common skeletal dysplasia (genetic dwarfism) caused by an FGFR3 gene mutation (gain-of-function) that inhibits endochondral bone growth…
Common chronic inflammatory disease of pilosebaceous units (hair follicles and oil glands) characterized by comedones (clogged pores), papul…
Group of genetic disorders with absent or reduced melanin pigment in skin, hair, and eyes due to melanin biosynthesis defects (e.g., tyrosin…
Atopic dermatitis (AD), also called eczema, is a chronic, pruritic inflammatory skin disease and the most common chronic skin inflammation w…
Malignant skin tumor of basal epidermal (keratinocyte) origin; slow-growing, locally invasive, and rarely metastasizes.
Common autoimmune blistering skin disease in older adults—IgG autoantibodies attack hemidesmosomes (BP180/BP230) at the dermal-epidermal jun…
Immune complex-mediated small-vessel vasculitis confined to the skin, typically causing palpable purpura on dependent areas (especially the …
Idiopathic inflammatory myopathy of older adults characterized by progressive muscle weakness and rimmed vacuoles (inclusion bodies) on musc…
Chronic T-cell mediated inflammatory disease of the skin and mucous membranes, featuring intensely pruritic violaceous (purple) flat-topped …
Injury to the median nerve (often at the elbow or wrist) leading to characteristic deficits; patients develop sensory loss in the lateral ha…
Chronic focal disorder of bone remodeling characterized by excessive bone resorption followed by chaotic bone formation, leading to a struct…
Group of disorders in growing children involving temporary loss of blood supply to bone (usually at the growth plate epiphysis or an apophys…
Group of heritable connective tissue disorders causing fragile bones that fracture with minimal trauma due to defective type I collagen.
Rare hereditary bone disorder where osteoclasts cannot resorb bone, leading to abnormally dense, brittle bones.
Two distinct disorders: one is a focal bone remodeling disease (excessive osteoclast and chaotic osteoblast activity) leading to structurall…
Life-threatening autoimmune blistering disease of skin and mucous membranes, characterized by acantholysis (loss of keratinocyte adhesion) d…
Chronic immune-mediated inflammatory skin disorder characterized by clearly defined, erythematous and scaly plaques.
Injury or compression of the radial nerve (C5–T1, branch of the posterior cord) causing weakness or paralysis of the wrist/finger extensors …
Lateral curvature of the spine >10° (Cobb angle) with accompanying vertebral rotation.
Small, dilated blood vessels visible on the skin or mucous membranes, often appearing as fine red or purple lines (commonly called "spider v…
Pruritic, circumscribed wheals (hives) due to transient dermal edema from mast cell histamine release. Lesions are raised with blanching cen…
Vitiligo is a common acquired disorder of pigmentation characterized by well-defined depigmented (white) macules and patches on the skin, re…