Mindblown: a blog about philosophy.

Pseudoxanthoma elasticum (PXE) is an inherited disorder in which elastic fibers in three organ systems (the skin, retina of the eyes, and cardiovascular system) become slowly calcified. This is a hereditary disorder of elastic tissue. Degenerating elastic tissue in the skin produces lesions which look like soft yellow papules. Elastic tissue in the eye and…

Pseudoseizures, also known as psychogenic seizures, are episodes of altered movement or behavior that resemble epileptic seizures but have no associated electroencephalogram (EEG) findings and no identifiable physiological cause. The episode lacks certain characteristic features of a true seizure but simulates a generalized tonic-clonic seizure. Less often, pseudoseizures mimic complex partial, atonic, myoclonic, or absence…

Pseudo-Hurler polydystrophy or mucolipidosis III is one of many disorders involving the mucopolysaccharides (complex carbohydrates) and mucolipids (fatty substances). In particular, multiple lysosomal enzymes and glycoproteins are implicated in pseudo-Hurler polydystrophy, with a resulting accumulation of mucopolysaccharides and glycolipids.  

Children born with prune belly syndrome (PBS) share three main characteristics (a) insufficient abdominal musculature, (b) urinary anomalies, and (c) undescended testes in males. Prune belly syndrome may also be called Eagle- Barrett syndrome and occasionally abdominal muscle deficiency syndrome, congenital absence of the abdominal muscles, Obrinsky syndrome, or mesenchymal dysplasia (National Organization for Rare…

Described clearly as a syndrome only as recently as 1983, Proteus syndrome, named for the Greek god, Proteus the polymorphous, is a progressive disorder associated with characteristic abnormalities in growth, skin and subcutaneous tissue, and the skeletal system. Current evidence suggests that Joseph Merrick (known as the Elephant Man) probably had Proteus syndrome, not neurofibromatosis…

Progressive osseous heteroplasia (POH), which is characterized by patches of dermal ossification during infancy and progressive heterotopic ossification of superficial and deep connective tissues such as muscles, tendons, and ligaments during childhood, was first described in 1994. POH is an extremely rare disorder; Kaplan et al. (1998) report 13 classic cases, and the International Fibrodysplasia…

The primary immunodeficiency diseases are a group of dis¬ orders in which the primary defect appears to be intrinsic to one or more components of the immune system. The immune system is conveniently divided into four necessary compartments: the B-lymphocyte system, the T-lymphocyte system, the phagocytic system, and the complement systern.  

Popliteal pterigium syndrome (PPS) is a heritable, congenital disorder composed of associated oral, extremity, and genital malformations. Skeletal anomalies are occasionally seen with this disorder.