Prurigo nodularis (PN) is a skin disease characterised by pruritic (itchy) nodules which usually appear on the arms or legs. Patients often present with multiple excoriated lesions caused by scratching. PN is also known as Hyde prurigo nodularis, Picker nodules, lichen simplex chronicus, atypical nodular form of neurodermatitis circumscripta, lichen corneus obtusus.
A very rare skin disorder that affects women in the later stages of pregnancy. Itchy, bumpy hives and plaques develop usually on the abdominal area
Pseudopelade of Brocq is really rare skin disorder indeed. Initially discovered by Brocq in 1888 as suspected to be a condition similar to Alopecia Areata, he concluded that this disease is quite different from the latter. This condition is defined as a variant or combination of the later stages of Scarring Alopecia like Discoid Lupus and Lichen Planopilaris.
A rare syndrome involving a deficiency of an enzyme called thiolase which results in mental retardation and muscle problems.
Pseudoachondroplasia is moderately severe skeletal dysplasia characterized by disproportionate short stature, hypermobile joints, normal head size, and normal length and appearance at birth. Individuals with this condition are usually not diagnosed until early childhood. Complications of this disorder include early-onset arthritis of the weight-bearing joints and other orthopedic complications. This genetic disorder has autosomal dominant inheritance.
A very rare syndrome characterized mainly by retarded growth, short limbs and other skeletal deformities.
The development of constricting bands of tissue that can result in autoamputation of the part of the limb involved (usually a digit). The disorder may be inherited or acquired.
A rare genetic disorder involving early onset high blood pressure, reduced aldosterone secretion, hypokalemia and metabolic acidosis. The disorder originates from kidney dysfunction rather than impaired aldosterone secretion.
A very rare condtion characterized by mental and physical retardation, skull abnormalities and skeletal defects. The symptoms observed are similar to those caused by aminopterin which was once used to induce abortions but in the pseudo form there is no evidence of exposure to aminopterin.
A rare harmless type of breast tumor.
Deficiency of an enzyme called arylsulfatase A which produces no symptoms and is only discovered incidentally
A rare disorder where deficiency of the enzyme pseudocholinesterase results in prolonged apnea when succinylcholine (muscle relaxant used during surgery) is administered.
A rare genetic disorder characterized by short stature, contractures and joint dislocations.
A very rare disorder characterized by ambiguous external genitals and anal and rectal anomalies.
Pseudohermaphroditism is a group of conditions where there is a discrepancy between the external genitals and the internal genitals (the testes and ovaries). The older term for this condition, hermaphroditism, came from joining the names of a Greek god and goddess, Hermes and Aphrodite. Hermes was a god of male sexuality (among other things) and Aphrodite a goddess of female sexuality, love, and beauty. Although the older terms are still included in this article for reference, they have been replaced by most experts (and patients and families) because they are misleading, confusing, and insensitive. Increasingly this group of conditions is being called disorders of sex development (DSDs).
A rare disorder characterized by skeletal anomalies and ambiguous female genitals with female gonads.
A rare disorder characterized caused by an enzyme (17-beta-hydroxysteroid dehydrogenase isozyme 3) deficiency which results in a lack of testosterone which is needed during the fetal stage to give males there physical characteristics. The result is that males are born with ambiguous or feminine external genitals.
A rare condition characterized by electrolyte disorders caused by the kidney's inability to respond to mineralocorticoids. Type 1 is differentiated from type II in that it involves sodium wasting. There are two forms of type 1: an autosomal recessive form which tends to be more severe than the autosomal dominant form. The recessive form tends to persist into adulthood whereas the dominant form is milder and symptoms tend to improve with age.
A rare condition characterized by electrolyte disorders caused by the kidney's inability to respond to mineralocorticoids. Type 1 is differentiated from type II in that it involves sodium wasting. There are two forms of type 1: an autosomal recessive form which tends to be more severe than the autosomal dominant form. The recessive form tends to persist into adulthood whereas the dominant form is milder and symptoms tend to improve with age.
A rare condition characterized by electrolyte disorders caused by the kidney's inability to respond to aldosterone. Type II is differentiated from Type I in that sodium wasting doesn't occur
Pseudohypoparathyroidism is a genetic disorder in which the body is unable to respond to parathyroid hormone. Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood. Hypoparathyroidism is a similar condition in which the body does not make enough parathyroid hormone instead of not being able to respond to it (as in pseudohypoparathyroidism).
There are two different types of pseudohypoparathyroidism, both of which are caused by spelling mistakes (mutations) in certain genes. Type 1 can be further divided into three sub-types
Pseudohypoparathyroidism type 1A is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism is when your body is unable to respond to parathyroid hormone, which is a hormone that controls the levels of calcium, phosphorous, and vitamin D in the blood. The symptoms are very similar to hypoparathyroidism (when parathyroid hormone levels are too low). The main symptoms are low calcium levels and high phosphate levels in the blood. This results in cataracts, dental problems, seizures, numbness, and tetany (muscle twitches and hand and foot spasms). Symptoms are generally first seen in childhood. People with this disorder are also resistant to other hormones, such as thyroid-stimulating hormone and gonadotropins. Type 1A is also associated with a group of symptoms referred to as Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. Pseudohypoparathyroidism type 1A is caused by a spelling mistake (mutation) in the GNASgene and is inherited in an autosomal dominant manner.
Pseudohypoparathyroidism type 1B (PHP1B) is a genetic disorder that is caused by a lack of response (resistance) to parathyroid hormone (PTH) and other hormones such as thyroid-stimulating hormone (TSH). This condition is very similar to hypoparathyroidism (in which not enough PTH is produced), causing low calcium levels and high phosphate levels in the blood. Resistance to PTH in individuals with type 1B may be limited to the kidneys. The severity of the condition can vary considerably among affected individuals, even within the same family. Most individuals do not have an abnormal physical appearance and usually do not exhibit other endocrine abnormalities. In some cases, PHP1B is inherited in an autosomal dominant manner and is caused by mutations in either the GNAS or STX16 genes. In other cases, it has been shown to be sporadic (not inherited), caused byimprinting defects in the GNAS gene. The goals of treatment are to correct the calcium deficiency and prevent complications.
Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. This causes low calcium and high phosphate levels in the blood. This condition is also associated with a group of symptoms referred to as Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. This disorder is different than pseudohypoparathyroidism type 1A because people with type 1C do not have abnormal activity of a particular protein (stimulatory protein G (Gs alpha)). Type 1C is inherited in an autosomal dominant fashion and is caused by a specific spelling mistake (mutation) in the GNAS gene.
Pseudohypoparathyroidism type 2 lacks the physical appearance of type 1a.Since the genetic defect in type 2 is further down the signalling pathway than in type 1, there is a normal cAMP response to PTH stimulation despite the inherent abnormality in calcium regulation.
A rare inherited progressive eye disease .
A very rare syndrome characterized mainly by long limbs, tall stature, large head, ataxia and facial anomalies.
A bacterial infection found in soil and water environments
Difficulty relaxing muscles after contracting the muscle.
Pseudomyxoma peritonei is a very rare type of cancer that usually begins in your appendix as a small growth, called a polyp. Or, more rarely, it can start in other parts of the bowel, the ovary or bladder. This polyp eventually spreads through the wall of your appendix and spreads cancerous cells to the lining of the abdominal cavity (the peritoneum). These cancerous cells produce mucus, which collects in the abdomen as a jelly like fluid called mucin.
Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with peroxisomal acyl-CoA oxidase deficiency have weak muscle tone (hypotonia) and seizures. They may have unusual facial features, including widely spaced eyes (hypertelorism), a low nasal bridge, and low-set ears. Extra fingers or toes (polydactyly) or an enlarged liver (hepatomegaly) also occur in some affected individuals.
Most babies with peroxisomal acyl-CoA oxidase deficiency learn to walk and begin speaking, but they experience a gradual loss of these skills (developmental regression), usually beginning between the ages of 1 and 3. As the condition gets worse, affected children develop exaggerated reflexes (hyperreflexia), increased muscle tone (hypertonia), more severe and recurrent seizures (epilepsy), and loss of vision and hearing. Most children with peroxisomal acyl-CoA oxidase deficiency do not survive past early childhood.