Autosomal recessive inherited pseudoxanthoma elasticum- MedGen UID:
- 698415
- •Concept ID:
- C1275116
- •
- Disease or Syndrome
Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span.
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency- MedGen UID:
- 332067
- •Concept ID:
- C1835813
- •
- Disease or Syndrome
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.
Sebaceous gland hyperplasia, familial presenile- MedGen UID:
- 356529
- •Concept ID:
- C1866428
- •
- Disease or Syndrome
Sebaceous gland hyperplasia presents as one or more elevated, soft, yellow papules with central umbilication on the face, particularly the forehead. Lesions may spread to the neck and upper part of the thorax. Sebaceous gland hyperplasia occurs frequently in older individuals, particularly in men past middle age (Nomland, 1930). A premature form has its appearance during puberty or just afterwards, male predominance, and excessive sebaceous secretion. Most cases are sporadic (summary by Boonchai and Leenutaphong, 1997).
Pseudoxanthoma elasticum, forme fruste- MedGen UID:
- 357280
- •Concept ID:
- C1867450
- •
- Disease or Syndrome
Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span.