Diseases

Prolymphocytic leukemia

Prolymphocytic leukaemia is a specific type of leukaemia. Prolymphocytic leukaemia affects B lymphocytes in about four out of five case. About one in five cases of PLL affects T lymphocytes. The cells seen in the blood are large immature lymphocytes called prolymphocytes. PLL is similar to CLL but affects a more immature cell type.

Prolymphocytic leukemia is divided into two types according to the kind of cell involved: B-cell prolymphocytic leukemia and T-cell prolymphocytic leukemia. It is usually classified as a kind of chronic lymphocytic leukemia.

B-cell prolymphocytic leukemia is a more aggressive, but still treatable, form of leukemia. The malignant B cells are larger than average. The name is commonly abbreviated B-PLL. It can involve deletions from chromosome 11 and chromosome 13. It has been suggested that some cases may represent a variant of mantle cell lymphoma. It has a relatively poor prognosis.

T-cell-prolymphocytic leukemia (T-PLL) is a mature T-cell leukemia with aggressive behavior and predilection for blood, bone marrow, lymph nodes, liver, spleen, and skin involvement. It is involving a proliferation of immature white blood cells (prolymphocytes - T-cells).T-PLL is a very rare leukemia, primarily affecting adults over the age of 30. It represents 2% of all small lymphocytic leukemias in adults.

Properdin deficiency

A rare condition where an inherited deficiency of properdin (a blood plasma component) affects immunity. In particular, susceptibility to meningococcal disease is increased. There are three subtypes of the disorder: type I is a total deficiency, type II is a partial deficiency and type III is a deficiency due to abnormal function of the properdin.

Properdin deficiency- X-linked

A rare condition where an inherited deficiency of properdin (a blood plasma component) affects immunity. In particular, susceptibility to Neisseria infections is increased.

Propionic acidemia

Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic glycinemia, is an autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia.

The disorder presents in the early neonatal period with progressive encephalopathy. Death can occur quickly, due to secondary hyperammonemia, infection, cardiomyopathy, or basal ganglial stroke.

Propionic acidemia is a rare disorder that is inherited from both parents. Being autosomal recessive, neither parent shows symptoms, but both carry a defective gene responsible for this disease. It takes two faulty genes to cause PA, so there is a 1 in 4 chance for these parents to have a child with PA.

Prostate cancer- familial

Prostate cancer is cancer that starts in the prostate gland. The prostate is a small, walnut-sized structure that makes up part of a man's reproductive system. It wraps around the urethra, the tube that carries urine out of the body.

Prostate cancer is one of the most common cancers in men. Having a first degree relative (father, brother, or son) with prostate cancer increases the risk according to age at diagnosis, and the type of relative and number of relatives affected.

The terms “familial” and “hereditary” prostate cancer both imply increased risk but are not synonymous. Familial prostate cancer refers to a clustering of this disease within families. Hereditary prostate cancer (HPC) refers to a specific subtype of familial prostate cancer marked by a pattern consistent with passage of a susceptibility gene via Mendelian inheritance.

Prostatic malacoplakia associated with prostatic abscess

Malakoplakia is an unusual chronic granulomatous inflammatory disorder that was originally described as affecting the bladder . It is more commonly found in the urinary tract, with prostatic malakoplakia accounting for 10% of cases. Clinically, malakoplakia mimics a carcinoma of the involved tissue, and an accurate diag-nosis is possible only through a histopathological examination to detect the presence of Michaelis-Gutmann bodies

Protein S acquired deficiency

A rare disorder involving a deficiency of a blood protein called protein S. Protein S prevents blood from clotting in the veins. A deficiency of protein S can be acquired through liver disease, chemotherapy, lack of vitamin K or through the use of oral anticoagulants or L-asparaginase.

Protein S deficiency

Congenital protein C or S deficiency is a lack of proteins C or S in the fluid part of the blood. The proteins are natural substances that help prevent blood clots

Proteus syndrome

Proteus syndrome (Wiedemann syndrome), is a rare congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors over half the body.

Proteus syndrome is highly variable, and is named after the Greek sea-god Proteus, who could change his shape.

The condition appears to have been first described in the American medical literature by Drs. Samia Temtamy and John Rogers in 1976. Dr. Michael Cohen described it in 1979. Only a few more than 200 cases have been confirmed worldwide, with estimates that about 120 people are currently alive with the condition. As attenuated forms of the disease may exist, there could be many people with Proteus syndrome who remain undiagnosed. Those most readily diagnosed are also the most severely disfigured.

Prothrombin deficiency

A rare disorder involving a deficiency of a protein (prothrombin or factor II) involved in blood clotting. The severity of symptoms vary according to the level of deficiency.

Protoporphyria

An inherited disorder where an enzyme defect causes excess protoporphyrin to build up in the skin. The protoporphyrin reacts to light and causes a painful burning sensation on the skin.

Proximal spinal muscular atrophy

A rare group of muscle disorders which mainly affects the muscles closest to the trunk of the body. Muscles become progressively weak and wasted due to damage to motor neurons in the spinal cord and brainstem.

Prune belly syndrome

Prune belly syndrome is a group of birth abnormalities marked by three major findings:

1) Lack of development of abdominal muscles, causing the skin of the belly area to wrinkle like a prune

2) Undescended testicles

3) Urinary tract problems

Prurigo nodularis

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.

Pseudo-Pelade of Brocq

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.

Pseudo-Zellweger syndrome

A rare syndrome involving a deficiency of an enzyme called thiolase which results in mental retardation and muscle problems.

Pseudoachondroplasia

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.

Pseudoainhum

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.

Pseudoaldosteronism

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.

Pseudoaminopterin syndrome

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.