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Dermatology, medical genetics. Cryopyrin-associated periodic syndrome ( CAPS) is a group of rare, heterogeneous autoinflammatory disease characterized by interleukin 1β -mediated systemic inflammation and clinical symptoms involving skin, joints, central nervous system, and eyes. It encompasses a spectrum of three clinically overlapping ...
Schindler disease, also known as Kanzaki disease and alpha-N-acetylgalactosaminidase deficiency, is a rare disease found in humans.This lysosomal storage disorder is caused by a deficiency in the enzyme alpha-NAGA (alpha-N-acetylgalactosaminidase), attributable to mutations in the NAGA gene on chromosome 22, which leads to excessive lysosomal accumulation of glycoproteins.
Catalepsy is a nervous disorder characterized by immobility and muscular rigidity, along with a decreased sensitivity to pain. Catalepsy is considered a symptom of serious diseases of the nervous system (e.g., Parkinson's disease, Epilepsy, etc.) rather than a disease by itself. Cataleptic fits can range in duration from several minutes to weeks.
Rheumatology. Diffuse idiopathic skeletal hyperostosis ( DISH) is a condition characterized by abnormal calcification/bone formation ( hyperostosis) of the soft tissues surrounding the joints of the spine, and also of the peripheral or appendicular skeleton. [1] In the spine, there is bone formation along the anterior longitudinal ligament and ...
Persistent genital arousal disorder ( PGAD ), originally called persistent sexual arousal syndrome ( PSAS ), [1] is spontaneous, persistent, unwanted and uncontrollable genital arousal in the absence of sexual stimulation or sexual desire, [2] [3] and is typically not relieved by orgasm. [3] [4] Instead, multiple orgasms over hours or days may ...
When gigantomastia occurs in young women during puberty, the medical condition is known as juvenile macromastia or juvenile gigantomastia and sometimes as virginal breast hypertrophy or virginal mammary hypertrophy. Along with the excessive breast size, other symptoms include red, itchy lesions and pain in the breasts.
Glucocorticoid remediable aldosteronism. Glucocorticoid remediable aldosteronism also describable as aldosterone synthase hyperactivity, is an autosomal dominant disorder in which the increase in aldosterone secretion produced by ACTH is no longer transient. It is a cause of primary hyperaldosteronism. [1]
The conditions described here are separate from the HSAN group of disorders, which have more specific signs and cause. Because feeling physical pain is vital for survival, CIP is an extremely dangerous condition. It is common for people with the condition to die in childhood due to injuries or illnesses going unnoticed.