| EBD | epidermolysis bullosa dystrophica |
|---|---|
| EBDCT | Cockayne-Touraine type of epidermolysis bullosa dystrophica |
| EBDD | epidermolysis bullosa dystrophica dominant |
| EBDR | epidermolysis bullosa dystrophica recessiva |
| myotonia dystrophica | <neurology> An inherited human neuromuscular disease classed as an autosomal dominant disease in which there is progressive muscle weakening and wasting. A triplet repeat syndromes (like fragile X syndrome), this most common adult form of muscular dystrophy is caused by expansion of the unstable trinucleotide repeat CTG in the 3' untranslated region on chromosome 19q13 (cAMP-dependent muscle protein kinase gene). Anticipation has been associated with further expansion of the repeat upon transmission to subsequent generations (the inheritance pattern is autosomal dominant), although contraction has been noted to occur as well. Especially severe neonatal cases have been born to affected mothers preferentially, suggesting a role for genomic imprinting as well. The classic physical signs include atrophy of facial muscles, cataracts, and delayed muscle relaxation. Detection of the expanded trinucleotide repeat is accomplished by PCR or Southern blot and expansion appears to correlate with decreased transcription of the protein kinase gene. Inheritance: autosomal dominant. (29 Dec 1997) |
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| elastosis dystrophica | Tiny breaks in the elastin-filled tissue in the back of the eye (retinae). These abnormalities are visible to the doctor during an examination using a viewing instrument called an ophthalmoscope. Angioid streaks are seen in patients with pseudoxanthoma elasticum (abbreviated PXE), a rare disorder of degeneration of the elastic fibres with tiny areas of calcification in the skin, back of the eyes (retinae), and blood vessels. Angioid streaks can be associated with blindness. (12 Dec 1998) |
| epidermolysis bullosa dystrophica | Form of epidermolysis bullosa characterised by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. (12 Dec 1998) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|