R/msk Flashcards
(78 cards)
What is Metachromatic Leukodystrophy?
Arylsulfatase Deficiency. This will be in a child who presents like MS
What is Ataxia Telangiectasia?
This is an IgA Deficiency, patients have Spider Veins
What do you see in Friedreich’s Ataxia?
Retinitis pigmentosa Scoliosis
What is Adrenal Leukodystrophy?
Carnitine Shuttle (CAT-1), defective adrenal failure (XR linked), long chain fatty acid stuck in cytoplasm
What is Guillain-Barre?
Antibodies damage multiple peripheral nerves, (Acute inflammatory Polyneuropathy), patients present with ascending paralysis 2 weeks after a UTI
What is ALS?
Descending Paralysis seen in middle aged males with fasciculations, there are no sensory problems
What is Werdnig-Hoffman?
Fasciculations in a newborn due to failure of the anterior horns to develop
What is Polio?
Asymmetric fasciculations in Kids present 2 weeks after Gastroenteritis
What is Choreoathetosis?
Dance like movements, wringing of the Hands, quivering / unsteady voice
What is Atonic Cerebral Palsy?
No Muscle Tone - floppy
What is Seborrheic keratosis?
Tan-brown-black stuck on appearance (indicative of adenocarcinomas)
What is Stucco Keratoses?
Barnacles, white-flesh colored stuck on papules
What is Dermatosis Papulosa Nigra?
Variant of SK on the face/neck of dark-skinned (removal causes high risk of hypo pigmentation or keloids)
What are Cutaneous Horns?
Hard, conical projection of keratin (retained keratin on SK or wart)
What are Keratoacanthomas?
Smooth, dome-shaped, red papule with central filled keratin crater (precursor to SCC)
What are Skin Tags (Acrochordon)?
Flesh colored outgrowth of skin pedunculated lesion (short stalk)
What are Skin polyps?
Flesh colored outgrowth of skin pedunculated lesion (long stalk)
What is Dermatofibromas?
Deep papule or nodule with Retraction sign
What is Hypertrophic scar?
Remains within the borders of wound site
What is Keloid?
Extends beyond the borders of wound site
What is Epidermal Nevus?
Group of hamartomas that follow Blaschkos lines
What is Nevus Sebaceous?
Congenital smooth waxy hyperplasia of sebaceous gland
What are Sebaceous Cysts?
Small keratin filled central opening (pore), need to remove cyst wall and culture if infected, (drain and pack)
What is Pilar Cyst (wen)?
Scalp cyst, concentric layers of dried keratin (remove cyst wall)