Pycnodysostosis (from Greek: πυκνός (puknos) meaning "dense", dys ("defective"), and ostosis ("condition of the bone")), is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. It is also known as PKND and PYCD. History
The disease was first described by Maroteaux and Lamy in 1962 at which time it was defined by the following characteristics: dwarfism; osteopetrosis; partial agenesis of the terminal digits of the hands and feet; cranial anomalies, such as persistence of fontanelles and failure of closure of cranial sutures; frontal and occipital bossing; and hypoplasia of the angle of the mandible. The defective gene responsible for the disease was discovered in 1996. The French painter Henri de Toulouse Lautrec (1864-1901) is believed to have had the disease. Signs and symptoms
Pycnodysostosis causes the bones to be abnormally dense; the last bones of the fingers (the distal phalanges) to be unusually short; and delays the normal closure of the connections (sutures) of the skull bones in infancy, so that the "soft spot" (fontanelle) on top of the head remains widely open. Because of the bone denseness, those with the syndrome suffer from fractures.Those with the syndrome have brittle bones which easily break, especially in the legs and feet. Other abnormalities involve the head and face, teeth, collar bones, skin, and nails. The front and back of the head are prominent. Within the open sutures of the skull, there may be many small bones (called wormian bones). The midface is less full than usual.
In other words, the sadomasochist generally desires that the pain be inflicted or received in love, not in abuse, for the pleasure of either one or both participants. This mutual pleasure may even be essential for the satisfaction of those involved. Here, Ellis touches upon the often paradoxical nature of widely reported consensual S&M practices. It is described as not simply pain to initiate pleasure, but violence—"or the simulation of involuntary violent acts"—said to express love. This irony is highly evident in the observation by many, that not only are popularly practiced sadomasochistic activities usually performed at the express request of the masochist, but that it is often the designated masochist who may direct such activities, through subtle emotional cues perceived or mutually understood and consensually recognized by the designated sadistIn his essay Coldness and Cruelty, (originally Présentation de Sacher-Masoch, 1967) Gilles Deleuze rejects the term "sadomasochism" as artificial, especially in the context of the quintessentially modern masochistic work, Sacher-Masochs Venus In Furs. Deleuzes counterargument is that the tendency toward masochism is based on intensified desire brought on or enhanced by the acting out of frustration at the delay of gratification. Taken to its extreme, an intolerably indefinite delay is rewarded by punitive perpetual delay, manifested as unwavering coldness. The masochist derives pleasure from, as Deleuze puts it, the "Contract": the process by which he can control another individual and turn the individual into someone cold and callous. The sadist, in contrast, derives pleasure from the "Law": the unavoidable power that places one person below another.