Skin
Lesions on exposure to light
Autosomal recessive mutation (8 kinds)
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Johns Hopkins Medicine
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Search Medicine in a Nutshell
Content: Robust 3-D Diagnoses
Diagnoses:
1. 3-dimensional
2. succinct
3. robust
3-dimensions:
2. pathological lesion
Succinct:
1. single line per dimension
2. clear
3. symptomatology implied
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- Diagnosis
- Where ?
- What ?
- Why ?
- Prognosis
- Therapy
- Familial Hypercholestrolemia
- Hemolytic Uremic Syndrome
- Takayusi's Arteritis
- Zollinger-Ellison Syndrome
- Hepatic Encephalopathy
- Autism
- Cystic Fibrosis
- Osteoporosis
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- Myasthenia Gravis
- Pneumoconiosis
- Broca's (motor, non-fluent) aphasia
- von Recklinghausen's disease
- Lacuna infarctions (LACI)
- Hyperacusis
- Wilson's Disease (Hepatolenticular degeneration)
- Conversion Disorder
- Narcolepsy
- Marfan's Syndrome
- Xeroderma Pigmentosum (XP)
- Alkaptonuria
- Methylmalonyl aciduria
- Medium Chain Acyl CoA Deficiency (MCAD)
- Marple Syrup Disease (MSUD)
- Ehlers Danlos Syndrome
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- Chronic Myeloid Leukemia
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Xeroderma Pigmentosum is very rare skin disorder in which DNA damaged by UV light. It can cause skin cancer. Some of the symptoms are uneven dark patches on skin, skin drying, skin appearing thin etc. If anyone observes symptoms of it, should consult doctor immediately.
ReplyDeleteSkin, DNA-thymidine dimers
ReplyDeleteNucleus, UV-endonuclease***
DNA, Polymerase+Ligase+Healed