Diseases

Progressive hemifacial atrophy

Progressive hemifacial atrophy (also known as progressive Parry–Romberg syndrome) is a rare neurocutaneous syndrome characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body. An autoimmune mechanism is suspected, and the syndrome may be a variant of localized scleroderma, but the precise etiology and pathogenesis of this acquired disorder remains unknown. It has been reported in the literature as a consequence of sympathectomy. The syndrome has a higher prevalence in females and typically appears between 5 – 15 years of age.

In addition to the connective tissue disease, the condition is often accompanied by significant neurological, ocular and oral signs and symptoms. The range and severity of associated symptoms and findings are highly variable.

Progressive kinking of the hair- acquired

A very rare disorder where patches of hair become progressively frizzy and leads to loss of hair. The areas affected are those that correspond to male-pattern balding.

Progressive multifocal leukoencephalopathy

Progressive multifocal leukoencephalopathy (PML) is a rare and usually fatal viral disease characterized by progressive damage (-pathy) or inflammation of the white matter (leuko-) of the brain (-encephalo-) at multiple locations (multifocal). It is caused by the JC virus, which is normally present and kept under control by the immune system. JC virus is harmless except in cases of weakened immune systems. In general, PML has a mortality rate of 30–50 percent in the first few months and those who survive can be left with varying degrees of neurological disabilities.

PML occurs almost exclusively in patients with severe immune deficiency, most commonly among patients with acquired immune deficiency syndrome (AIDS), but people on chronic immunosuppressive medications including chemotherapy are also at increased risk of PML, such as patients with transplants, Hodgkin's Lymphoma, multiple sclerosis, psoriasis and other autoimmune diseases.

Progressive muscular atrophy

Progressive muscular atrophy (PMA), also known as Duchenne-Aran muscular atrophy and by various other names, is a rare subtype of motor neuron disease (MND) that affects only the lower motor neurons. PMA is thought to account for around 4% of all MND cases. This is in contrast to amyotrophic lateral sclerosis (ALS), the most common form of MND, which affects both the upper and lower motor neurones, or primary lateral sclerosis, another rare MND variant, which affects only the upper motor neurons. The distinction is important because PMA is associated with a better prognosis than classic ALS.

Progressive myositis ossificans

A rare genetic connective tissue disorder characterized by a short toe, fibrous dysplasia and bone formation in muscles, ligaments, tendons and soft connective tissue.

Progressive osseous heteroplasia

A very rare disorder where bone forms in abnormal parts of the body such as the skin. The extent and location of the abnormal bone formation is variable.

Progressive pseudorheumatoid arthropathy of childhood

Progressive pseudorheumatoid arthropathy of childhood (PPAC) also called Progressive pseudorheumatoid disyplasia (PPD, SEDT-PA) is a joint disease that worsens over time. This condition is characterized by breakdown (degeneration) of the cartilage between bones (articular cartilage). This cartilage covers and protects the ends of bones, and its degeneration leads to pain and stiffness in the joints and other features of PPRD.

PPRD usually begins in childhood, between ages 3 and 8. The first indications are usually an abnormal walking pattern, weakness and fatigue when active, and stiffness in the joints in the fingers and in the knees. Other signs and symptoms that develop over time include permanently bent fingers (camptodactyly), enlarged finger and knee joints (often mistaken as swelling), and a reduced amount of space between the bones at the hip and knee joints. Hip pain is a common problem by adolescence. Affected individuals have flattened bones in the spine (platyspondyly) that are abnormally shaped (beaked), which leads to an abnormal front-to-back curvature of the spine (kyphosis) and a short torso. At birth, people with PPRD are of normal length, but by adulthood, they are usually shorter than their peers. Affected adults also have abnormal deposits of calcium around the elbow, knee, and hip joints and limited movement in all joints, including those of the spine.

PPRD is often mistaken for another joint disorder that affects young people called juvenile rheumatoid arthritis. However, the joint problems in juvenile rheumatoid arthritis are associated with inflammation, while those in PPRD are not. It may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis.

 

Progressive Pulmonary Fibrosis

Progressive Pulmonary Fibrosis (PPF) describes a pattern where lung scarring (fibrosis) worsens over time in various lung diseases (Interstitial Lung Diseases or ILDs) that aren’t Idiopathic Pulmonary Fibrosis (IPF), leading to increasing breathlessness, dry cough, fatigue, and declining lung function, despite addressing the initial cause. It’s a serious condition where healthy tissue turns to scar tissue, making oxygen transfer difficult, and can result from autoimmune issues, environmental exposures (like hypersensitivity pneumonitis), or unknown causes, needing therapies like oxygen, rehab, or transplants as it progresses towards potential lung failure. 

Progressive supranuclear palsy

Progressive supranuclear palsy is a brain disorder that affects movement, vision, speech, and thinking ability (cognition). The signs and symptoms of this disorder usually become apparent in mid- to late adulthood, most often in a person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 years after the disease first appears, although a few affected individuals have lived for more than a decade.

Loss of balance and frequent falls are the most common early signs of progressive supranuclear palsy. Affected individuals have problems with walking, including poor coordination and an unsteady, lurching gait. Other movement abnormalities develop as the disease progresses, including unusually slow movements (bradykinesia), clumsiness, and stiffness of the trunk muscles. These problems worsen with time, and most affected people ultimately require wheelchair assistance.

Progressive supranuclear palsy is also characterized by abnormal eye movements, which typically develop several years after the other movement problems first appear. Restricted up-and-down eye movement (vertical gaze palsy) is a hallmark of this disease. Other eye movement problems include difficulty opening and closing the eyelids, infrequent blinking, and pulling back (retraction) of the eyelids. These abnormalities can lead to blurred vision, an increased sensitivity to light (photophobia), and a staring gaze.

Additional features of progressive supranuclear palsy include slow and slurred speech (dysarthria) and trouble swallowing (dysphagia). Most affected individuals also experience changes in personality and behavior, such as a general loss of interest and enthusiasm (apathy). They develop problems with cognition, including difficulties with attention, planning, and problem solving. As the cognitive and behavioral problems worsen, affected individuals increasingly require help with personal care and other activities of daily living.

Risk factors:
The only proven risk factor for progressive supranuclear palsy is age. The condition typically affects people around the age of 60, and is virtually unknown in people under the age of 40.

Prolactinoma- familial

A pituitary tumor that secretes prolactin and occurs in a familial pattern of inheritance. The tumor is benign but can cause symptoms due to high prolactin levels or compression of the optic nerve.

Prolidase deficiency

A rare metabolic disorder where an enzyme (prolidase) deficiency impairs the breakdown of certain proteins which causes a harmful buildup in the body. The type and severity of symptoms are variable and may include skin disorders, retarded motor development, impaired cognitive development, frequent infections and skeletal abnormalities.

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.