Primary tubular proximal acidosis: A rare disorder where abnormal function of the proximal kidney tubules causes a buildup of acid in the body. The kidney abnormality is not due to any other disease, condition or injury.
Primary vitreoretinal lymphoma (PVRL) is a rare form of primary central nervous system (CNS) lymphoma (PCNSL) arising in the intraocular compartment without brain involvement. Despite its apparent indolent clinical course, PVRL can cause permanent vision loss and CNS relapse, the major cause of death in patients with PVRL. The pathophysiology of PVRL is unknown. As in PCNSL, the transformation of the tumor cells likely originates outside the CNS, before the cells migrate to the eye and proliferate within an immune-permissive microenvironment. PVRL exhibits a biased immunoglobulin repertoire, suggesting underlying antigen selection. The diagnosis remains challenging, requiring close coordination between ophthalmologists and cytologists. Because of their rarity and fragility in the vitreous, lymphoma cells cannot always be identified. Interleukin levels, molecular biology, and imaging are used in combination with clinical ophthalmological examination to support the diagnosis of PVRL. Multi-institutional prospective studies are urgently needed to validate the equivocal conclusions regarding treatments drawn from heterogeneous retrospective or small cohort studies. Intravitreal injection of methotrexate or rituximab or local radiotherapy is effective at clearing tumor cells within the eyes but does not prevent CNS relapse. Systemic treatment based on high-dose methotrexate chemotherapy, with or without local treatment, might reduce this risk. At relapse, intensive consolidation chemotherapy followed by stem cell transplantation can be considered. Single-agent ibrutinib, lenalidomide, and temozolomide treatments are effective in patients with relapsed PVRL and should be tested as first-line treatments. Therapeutic response assessment based on clinical examination is improved by measuring cytokine levels but still needs to be refined.
Primordial microcephalic dwarfism crachami type: Another name for Microcephalic osteodysplastic primordial dwarfism, type 3 (or close medical condition association). Microcephalic osteodysplastic primordial dwarfism, type 3: A very rare syndrome characterized mainly by dwarfism.
A rare disorder where the heart artery spasms which affects the blood flow to the heart and causes pain. The condition can occur with or without physical activity.
Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin. It is has been described in less than 10 patients.
A rare inherited blood disorder caused by a deficiency of a blood protein called Factor VII and resulting in poor blood coagulation. The severity of the condition is variable.
Proctitis is an inflammation of the rectum that causes discomfort, bleeding, and occasionally, a discharge of mucus or pus.
Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not disrupt intellectual development or the development of motor skills such as sitting, standing, and walking.
Hutchinson-Gilford progeria syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family
A very rare inherited disorder characterized by premature aging, short stature, and immune system deficiency. The type and severity of symptoms is variable.
A very rare syndrome characterized mainly by premature aging involving the face, skin and hair as well as other anomalies
A rare form of premature aging .
A dominantly inherited protruding jaw which is often associated with other facial anomalies.
Pathologic mandibular prognathism is a potentially disfiguring, genetic disorder where the lower jaw outgrows the upper, resulting in an extended chin.
An inherited, progressive pigment disorder involving spreading areas of dark pigmentation on the tops of the fingers and toes. The neck, face and limbs may eventually be involved.
A slow progressive paralysis of the motor nerves of the eye (external eye muscles). The condition is often abbreviated to PEO. PEO is usually caused by mitochondrial diseases such as mitochondrial myopathy. Muscles are the most frequently affected organs in mitochondrial disease.
Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals.
Signs and symptoms of PFIC typically begin in infancy and are related to bile buildup and liver disease. Specifically, affected individuals experience severe itching, yellowing of the skin and whites of the eyes (jaundice), failure to gain weight and grow at the expected rate (failure to thrive), high blood pressure in the vein that supplies blood to the liver (portal hypertension), and an enlarged liver and spleen (hepatosplenomegaly).
There are three known types of PFIC: PFIC1, PFIC2, and PFIC3. The types are also sometimes described as shortages of particular proteins needed for normal liver function. Each type has a different genetic cause.
In addition to signs and symptoms related to liver disease, people with PFIC1 may have short stature, deafness, diarrhea, inflammation of the pancreas (pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) in the blood. Affected individuals typically develop liver failure before adulthood.
The signs and symptoms of PFIC2 are typically related to liver disease only; however, these signs and symptoms tend to be more severe than those experienced by people with PFIC1. People with PFIC2 often develop liver failure within the first few years of life. Additionally, affected individuals are at increased risk of developing a type of liver cancer called hepatocellular carcinoma.
Most people with PFIC3 have signs and symptoms related to liver disease only. Signs and symptoms of PFIC3 usually do not appear until later in infancy or early childhood; rarely, people are diagnosed in early adulthood. Liver failure can occur in childhood or adulthood in people with PFIC3
Progressive Familial Intrahepatic Cholestasis-1 (PFIC) refers to a group of familial cholestatic conditions caused by defects in biliary epithelial transporters. PFIC1 is the less frequent type of PFIC. The clinical presentation usually occurs first in childhood with progressive cholestasis. This usually leads to failure to thrive, hepatic failure, and the need for liver transplantation.
Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis, is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. A rare inherited condition where bile is unable to drain from the liver where it builds up and causes progressive liver damage. The condition has an early onset and usually leads to end-stage liver disease by the end of the second decade. The various types of this condition differ in the origin of the genetic defect (liver-specific ATP-binding cassette transporter on chromosome 2q24). Type 2 is also associated with an increased risk of liver cancer in the first few years of life.
Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis, is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood. The condition usually leads to end-stage liver disease by the end of the second decade.
Progressive familial intrahepatic cholestasis (PFIC) is a rare inherited condition with early childhood onset of severe progressive liver disease. Children are unable to drain bile from the liver even though the large bile ducts are open (called cholestasis). Most patients require liver transplant in childhood
A rare condition characterized by hearing loss, fixation of stapes (ear bone which causes conductive deafness if it becomes fixed and immovable) and reduced vestibular response
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.
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 (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 (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.
A rare genetic connective tissue disorder characterized by a short toe, fibrous dysplasia and bone formation in muscles, ligaments, tendons and soft connective tissue.