Phytanic acid oxidase deficiency
Phytanic acid oxidase deficiency (medical condition): A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
Phytanic acid oxidase deficiency (medical condition): A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
PIBIDS syndrome: A rare inherited skin disorder characterized by photosensitivity (P), red, dry, scaly skin (I - ichthyosis), brittle hair (B), impaired physical and mental development (I), decreased fertility (D) and short stature (S). It is the same as IBIDS syndrome but involves photosensitivity.
Picardi-Lassueur-Little syndrome: A very rare disorder characterized by patches of hair loss involving the scalp, armpits, eyebrows and genitals. The hair loss on the scalp is accompanied by scarring of the skin. Hair follicles become eruptive and spiny usually months to years after hair loss.
Pick disease is a brain disorder that causes slowly worsening decline of mental abilities. It gradually damages brain cells and impairs their function. It disturbs cognitive processes, such as reasoning, problem solving, and memory. The disease often affects a person’s ability to use and understand spoken, written, and even signed language. It also affects personality, emotions, and social behavior. When the decline in mental abilities is severe enough to interfere with a person’s ability to carry out everyday activities, it is called dementia. Pick disease is named after Arnold Pick, the doctor who first described the disease in 1892. It is often compared to Alzheimer disease. However, Pick disease is different from Alzheimer disease in several ways. * First, the diseases affect different parts of the brain. Pick disease usually affects only the frontal and temporal lobes of the brain, the part from the forehead back to the ears. For this reason it is sometimes called “frontotemporal dementia.” Pick disease is only one of several types of frontotemporal dementia. * * Second, the diseases damage the brain in different ways. The changes they cause in the brain are distinct. Both diseases cause severe shrinkage (atrophy) of brain tissue and death of nerve cells called neurons. In Pick disease, the neurons contain abnormal protein accumulations called Pick bodies. Neurons may swell as they stop functioning. * * These differences translate to somewhat different symptoms for the two diseases. Memory loss, usually the first symptom in Alzheimer disease, may not occur in Pick disease until later in the disease. People with Pick disease may have early changes in mood, behavior, and use of language and speech (aphasia). * * On average, Pick disease occurs at a somewhat younger age than Alzheimer disease. In Pick disease, the first symptoms typically appear in middle age, in people aged 40-60 years. However, it can occur in adults of any age. Unfortunately, Pick disease is similar to Alzheimer disease in several ways. * It is a progressive disease, meaning that the symptoms gradually worsen over time and do not get better. * * The two diseases are equally devastating, causing gradual decline of mental functions and disability. * * Neither disease is curable. Much less is known about Pick disease than about Alzheimer disease. This is partly because Pick disease is a much less common disease. Also, Pick bodies and neuron swelling are difficult to detect in a living person, so Pick disease may go undiagnosed or be misdiagnosed. People with Pick disease are sometimes thought to have Alzheimer disease. This is changing as medical professionals learn more about Pick disease.
Piebaldism: A rare genetic condition characterized by patches of lack of pigmentation that involves the skin and the hair.
Piepkorn Karp Hickok syndrome (medical condition): A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies: A rare syndrome characterized mainly by a sunken chest, Pierre Robin sequence and rib and shoulder blade abnormalities.
Pierre Robin syndrome skeletal dysplasia polydactyly: A rare disorder characterized by the Pierre-Robin sequence (underdeveloped jaw, cleft soft palate and abnormal tongue location), extra fingers and skeletal abnormalities.
Pierre-Robin syndrome with fetal chondrodysplasia: A very rare inherited disorder involving bone growth abnormalities, impaired hearing and a characteristic face.
Pierre Robin syndrome is a condition present at birth in which an infant has a very small lower jaw, a tongue that tends to fall back and downward, and a soft cleft palate. The syndrome is also called Pierre Robin complex or sequence.
Pierson syndrome: A very rare syndrome characterized mainly by a small pupil and kidney disease at birth.
Pigment dispersion syndrome (PDS) is an affliction of the eye that, if left untreated, can lead to a form of glaucoma known as pigmentary glaucoma. It takes place when pigment cells slough off from the back of the iris and float around in the aqueous humor. This is not what causes problems; however, if the pigment flakes clog the trabecular meshwork, preventing the liquids in the eye from draining, pressure can build up inside the eye. This pressure can cause permanent damage to the optic nerve. This condition is rare, but occurs most often in Caucasians, particularly men, and the age of onset is relatively low: mid 20s to 40s. Most sufferers are nearsighted. There is no cure as of yet, but PDS can be managed with eye drops or treated with simple surgeries. If caught early and treated, chances of glaucoma are greatly reduced. Sufferers are often advised not to engage in high-impact sports such as long-distance running or martial arts, as strong impacts can cause more pigment cells to slough off.
Pigmentary retinopathy: An inherited eye disorder involving degeneration of the retina.
Pigmented purpuric eruption (medical condition): A disorder involving blood capillary inflammation associated with excess pigmentation.
Pigmented villonodular synovitis (PVNS) is a joint problem that usually affects the hip or knee. It can also occur in the shoulder, ankle, elbow, hand or foot. When you have PVNS, the lining of a joint becomes swollen and grows. This growth harms the bone around the joint. The lining also makes extra fluid that can cause swelling and make movement very painful.
Pili annulati: A rare hair disorder where some or all of the hair shafts have alternating light and dark bands of color along the hair shaft.
Pili torti - developmental delay - neurological abnormalities: A very rare syndrome characterized mainly by developmental delay, twisted hair shafts and neurological symptoms.
Pili torti - developmental delay - neurological abnormalities: A very rare syndrome characterized mainly by developmental delay, twisted hair shafts and neurological symptoms.
Pili torti - onychodysplasia: A very rare syndrome characterized mainly by abnormal nails and fragile twisted hair shafts.
Pillay syndrome: A rare inherited disorder characterized by corneal clouding an abnormalities of the jaw and arm bones.
Pilo dento ungular dysplasia - microcephaly: A very rare syndrome characterized mainly by hair, tooth and nail abnormalities as well as a small head.
Pilomatrixoma is a slow-growing, hard mass found beneath the skin. It is most common on the face and neck, but is sometimes found on the scalp, eyelids, and arms. Pilomatrixoma is usually a single lump, but, occasionally, multiple masses are seen. Most cases of pilomatrixoma occur in children under the age of 10, and the condition is twice as common in females as males. Other names for pilomatrixoma include pilomatricoma and calcifying epithelioma of Malherbe.
Pilotto syndrome: A very rare syndrome characterized mainly by congenital heart disease, cleft lip and palate, scoliosis, short stature and mental retardation.
Pineal Teratoma: A type of brain tumor that occurs mainly in the pineal region of the brain.
Pinealoma: A slow-growing type of brain tumor that occurs in the pineal gland. The pineal gland produces a hormone called melatonin which is involved in regulating sleep patterns.
Pineoblastoma, adult: A rare type of highly malignant brain tumor that usually occurs in children. The tumor develops in the pineal region of the brain.
Pinheiro freire maia miranda syndrome (medical condition): A rare syndrome characterized mainly by hair, skin and tooth abnormalities.
Pinta is a human skin disease endemic to Mexico, Central America, and South America. It is caused by infection with a spirochete, Treponema pallidum carateum, which is morphologically and serologically indistinguishable from the organism that causes syphilis