Connective Tissue Pathology Flashcards
where is connective tissue found
tendons blood cartilage bone adipose tissue lymphatic tissue
what type of disorder is Marfan Syndrom
autosomal dominant disorder
Organ abnormalities of Marfan Disorder
organ abnormalities
- cardiovascular
- aortic stenosis
- mitral valve prolapse
what is the most important defect of Marfan syndrome?
ascending or descending aorta
there is a high incidence of dissecting aneurysm
Characteristics of Marfan syndrome
short torso long limbs
arachnodactyly
long skull
skeletal abnormalities of Marfan syndrome
- pectus excavatum or carinatum
- weak ligaments, tendon, joint capsules
- scoliosis
- hyperflexibility
eye abnormalities of Marfan syndrome
- dislocation of the lens
- severe myopia due to the elongation of eye
- retinal displacement
Ehlers-Danlos Syndrome
a group of inherited connective tissue disorders
6 types of Ehlers-Danlos Syndrome
- Hyper-elasticity & fragile of the skin
- Joint hypermobility
- Bleeding diathesis
- Severe kyphoscoliosis
- Blindness from retinal hemorrhage
- Bladder rupture
3 types of Neurofibromatosis
- Type 1 – von Recklinghausen Disease (NF1)
- Type II – Central Neurofibromatosis (NF2)
- Type III – Schwannomatosis
most common autosomal dominant disorder
Type 1 – von Recklinghausen Disease (NF1)
1 in 3,500 people of all races
what are Type 1 – von Recklinghausen Disease (NF1) disfiguring neurofibromas and cade-au-lait spots
- benign tumors of peripheral nerve or schwann cells
- areas of dark skin pigmentation (95% of people display six or more spots)
what percentage of people develop cutaneous and subcutaneous neurofibromas in late childhood and adolescence
90%
Type II – Central Neurofibromatosis (NF2)
- bilateral 8th cranial nerve tumor
- meningiomas
- gliomas
Type III – Schwannomatosis
occurs in ~1 in 40,000 births
symptoms usually first appear in adult hoood
What is Type III – Schwannomatosis characterized by?
- Multiple nerve sheath tumors (schwannomas) and associated pain
- Symptoms limited to one area of the body