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Fibromuscular Dysplasia
 Signs and symptoms
 Renal – Hypertension,ischemic
nephropathy , Kidney Failure
 Neurological –
1. Blurred vision or vision loss
2. Dizziness (vertigo)
3. Headache
4. Neck pain
5. Ringing in the ears (tinnitus)
Monckeberg medial calcific sclerosis
 Older than 50 yrs
 Mostly in Radial / Ulnar arteries
 Pipe stem arteries
 May have association with Osteoporosis
 Mostly not clinically significant
Homocystinemia

 Vascular abnormalities
 • Ischemic stroke and transient ischemic attack
 • Myocardial infarction
 • Peripheral vascular disease
 • Deep venous thrombosis
 • Pulmonary embolism
 • Cerebral venous thrombosis
 Neurologic abnormalities
 • Ischemic stroke and transient ischemic attack
 • Cerebral venous thrombosis
 • Mental retardation
 • Psychiatric disorders
 • Seizures
 Ocular abnormalities
 • Dislocation of lens
 • Myopia
 • Retinal Detachment
 • Glaucoma
 • Cataracts
 • Corneal abnormalities
 Skeletal abnormalities
 • Osteoporosis
 • Scoliosis
 • Increased length of long bones
 • Pes cavus
 • Arachnodactyly
 Other abnormalities
 • Fatty infiltration of liver
 • Endocrine abnormalities
 • Myopathy
11 beta hydroxylase deficiency
 Form of Congenital Adrenal Hyperplasia
 11β-OH CAH results in hypertension due
to excessive mineralocorticoid effects. It
also causes excessive androgen production
both before and after birth and can virilize
a genetically female fetus or a child of
either sex.
Liddle Syndrome
 Pseudoaldosteronism
 AD
 early, and frequently severe, hypertension associated with
low plasma renin activity, metabolic alkalosis due to
hypokalemia, and hypoaldosteronism (low secretion of
aldosterone).[2] It is one of several conditions with this
unusual set of characteristics known collectively as
pseudohyperaldosteronism
 abnormal kidney function, with excess
reabsorption of sodium and loss of potassium
from the renal tubule,
Muir Torre Syndrome
 inherited cancer syndrome
 subtype of HNPCC.
 cancers of the colon, breast and
genitourinary tract, and skin lesions, such
as keratoacanthomas and sebaceous
tumours. The genes affected are MLH1 &
MSH2, and involved in DNA mismatch
repair.
General

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General

  • 2. Fibromuscular Dysplasia  Signs and symptoms  Renal – Hypertension,ischemic nephropathy , Kidney Failure  Neurological – 1. Blurred vision or vision loss 2. Dizziness (vertigo) 3. Headache 4. Neck pain 5. Ringing in the ears (tinnitus)
  • 3.
  • 4. Monckeberg medial calcific sclerosis  Older than 50 yrs  Mostly in Radial / Ulnar arteries  Pipe stem arteries  May have association with Osteoporosis  Mostly not clinically significant
  • 5. Homocystinemia   Vascular abnormalities  • Ischemic stroke and transient ischemic attack  • Myocardial infarction  • Peripheral vascular disease  • Deep venous thrombosis  • Pulmonary embolism  • Cerebral venous thrombosis  Neurologic abnormalities  • Ischemic stroke and transient ischemic attack  • Cerebral venous thrombosis  • Mental retardation  • Psychiatric disorders  • Seizures  Ocular abnormalities  • Dislocation of lens  • Myopia  • Retinal Detachment  • Glaucoma  • Cataracts  • Corneal abnormalities  Skeletal abnormalities  • Osteoporosis  • Scoliosis  • Increased length of long bones  • Pes cavus  • Arachnodactyly  Other abnormalities  • Fatty infiltration of liver  • Endocrine abnormalities  • Myopathy
  • 6.
  • 7. 11 beta hydroxylase deficiency  Form of Congenital Adrenal Hyperplasia  11β-OH CAH results in hypertension due to excessive mineralocorticoid effects. It also causes excessive androgen production both before and after birth and can virilize a genetically female fetus or a child of either sex.
  • 8. Liddle Syndrome  Pseudoaldosteronism  AD  early, and frequently severe, hypertension associated with low plasma renin activity, metabolic alkalosis due to hypokalemia, and hypoaldosteronism (low secretion of aldosterone).[2] It is one of several conditions with this unusual set of characteristics known collectively as pseudohyperaldosteronism  abnormal kidney function, with excess reabsorption of sodium and loss of potassium from the renal tubule,
  • 9.
  • 10.
  • 11. Muir Torre Syndrome  inherited cancer syndrome  subtype of HNPCC.  cancers of the colon, breast and genitourinary tract, and skin lesions, such as keratoacanthomas and sebaceous tumours. The genes affected are MLH1 & MSH2, and involved in DNA mismatch repair.