Diseases

Pellagra

Pellagra is a disorder brought on by a deficiency of the nutrient called niacin or nicotinic acid, one of the B-complex vitamins.

Pellagra like syndrome

Pellagra-like syndrome: A rare disorder where the body is unable to metabolise tryptophan which causes a distinctive skin rash and neurological symptoms.

Pelvic lipomatosis

Pelvic lipomatosis: A rare disorder where benign fatty growths develop in the pelvic area. Mainly occurs in obese, hypertensive, black males during old age. The main symptoms of the disorder tend to be related to compression of various genitourinary organs by the abnormal mass.

Pelviscapular dysplasia

Pelviscapular dysplasia (medical condition): A rare syndrome characterized mainly by short stature at birth, unusual facial appearance and skeletal abnormalities involving the shoulder blades and hips

Pemphigus

Pemphigus is a rare group of autoimmune blistering diseases that affect the skin and mucous membranes.

Pemphigus and fogo selvagem

Pemphigus and fogo selvagem: An autoimmune skin disease characterized by skin blisters and a burning sensation. It is endemic particularly in Brazil but may also occur in other countries.

Pemphigus foliaceus

The pemphigus family are rare autoimmune blistering diseases affecting skin and/or mucous membranes. Pemphigus foliaceus (PF) is a rare relatively benign form of pemphigus. In New Zealand pemphigus foliaceus is more often encountered than its more serious relative pemphigus vulgaris, although worldwide pemphigus vulgaris is more common. Pemphigus foliaceus is characterised by blistering lesions on otherwise healthy-looking skin. Blisters tend to form when the skin is rubbed (Nikolsky sign). There are currently 6 subtypes: * Pemphigus erythematosus * Pemphigus herpetiformis * Endemic PF * IgA PF * Paraneoplastic PF * Drug-induced PF.

Pemphigus vulgaris

Pemphigus is a group of rare skin disorders that cause blisters and sores on the skin or mucous membranes, such as in the mouth or on the genitals.

The two main types are pemphigus vulgaris and pemphigus foliaceus. Pemphigus vulgaris usually starts in your mouth. It can be painful. Pemphigus foliaceus affects the skin and tends to be more itchy than painful. Pemphigus can occur at any age, but it's most often seen in people who are middle-aged or older.

Pemphigus is not to be confused with bullous pemphigoid, another blistering skin condition. Usually a chronic condition, pemphigus is best controlled by early diagnosis and treatment. Treatment may include medications and therapies similar to those used for severe burns.
Symptoms & causes

 

Pemphigus vulgaris is an autoimmune disorder that involves blistering of the skin and mucous membrane. The blisters, which usually begin on your face and scalp and later erupt on your chest and back, usually aren't painful. They tend to be crusty and itchy. It occurs almost exclusively in middle-aged or older people. Many cases begin with blisters in the mouth, followed by skin blisters that may come and go. In most cases, the exact cause of pemphigus vulgaris is unknown.It has rarely been observed in multiple members of the same family.

Pemphigus vulgaris- familial

Pemphigus vulgaris, familial: A very rare skin blistering disorder caused by an autoimmune reaction. The mucous membranes as well as the skin is affected. Soft fragile blisters usually start in the mouth and on the scalp. Healed blisters leave no scarring.

Pena Shokeir syndrome Type 2

Pena-Shokeir syndrome Type 2: A rare progressive congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities as well as eye abnormalities.

Pena Shokeir syndrome- type 1

Pena Shokeir syndrome, type 1: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.

Pendred syndrome

Pendred syndrome is a genetic disorder that causes early hearing loss in children. It also can affect the thyroid gland and sometimes may affect a person's balance. The syndrome is named after Vaughan Pendred, the physician who first described individuals with the disorder. Children who are born with Pendred syndrome may begin to lose their hearing at birth or by the time they are three years old. The hearing loss is progressive, which means that a child will have less hearing over time. Some individuals may become totally deaf. The loss of hearing often happens suddenly and in stages. Sometimes, after a sudden decrease in hearing, a person's hearing will nearly return to its previous level. Almost all people with Pendred syndrome have bilateral hearing loss, or hearing loss in both ears. The hearing loss often is greater in one ear than in the other.

Penile squamous cell carcinoma

A rare urogenital tumor characterized by origin from squamous epithelial cells of the penis, most commonly the glans or inner surface of the prepuce. Macroscopically, the tumors can appear either papillary or flat and ulcerating. Histological subtypes include usual squamous cell carcinoma as the most common type, as well as basaloid, warty, verrucous, papillary, and mixed carcinomas. Patients may initially be asymptomatic but present with itching, bleeding, discharge, foul odor, and pain, as the disease progresses. Regional lymph node involvement is common, while distant metastases occur only late in the disease. Risk factors include HPV infection, smoking, poor hygiene, and HIV infection. Neonatal circumcision is implicated as strongly protective.

Primary penile SCC may occur at any anatomic site on the penis. It most often occurs on the glans, although it may also develop on the prepuce, both the glans and the prepuce, the coronal sulcus, and the shaft. Invasion of the shaft by a tumor originating from more distant sites may also be observed.

Penis agenesis

Penis agenesis: An extremely rare condition where a male is born without a penis. Penile agenesis (also known as Stern syndrome) is a very rare birth defect in humans, occurring about once in 20 million births, where a male child is born without a penis. It is also known as aphallia [from the Greek, "a" for negative or no, and "phallia" for penis]. Most patients have no known family history of aphallia, and often have a normal male anatomy, save for the absence of the penis. This birth defect shares the same gene locus as that of another rare gene disorder, Junger's hyperphallus, located on the long arm of the Y chromosome.

Penoscrotal transposition

Penoscrotal transposition: A very rare malformation where the penis and scrotum completely or partially swap positions. Other abnormalities are also usually associated.

Pentalogy of Cantrell

Pentalogy of Cantrell (or thoraco-abdominal syndrome) is a rare syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum.

It was characterized in 1958.

A locus at Xq25-26 has been described.

Pentosuria

Pentosuria is a condition where xylulose (a pentose) presents in the urine in unusually high concentrations.An inborn metabolic disorder where an enzyme (xylitol dehydrogenase reductase) deficiency results in excessive urinary excretion of a sugar called L-xylulose. Pentoses can be found in fruits. The condition is harmless.

PEPCK 1 deficiency

PEPCK 1 deficiency: A rare inherited disorder where deficiency of an enzyme (phosphoenolpyruvate carboxykinase-1) prevents fats and proteins being turned into glucose which causes various problems. In type 1, the enzyme deficiency occurs in the liquid part of the cells.

Peptidic growth factors deficiency

Peptidic growth factors deficiency: A very rare syndrome characterized mainly by diabetes, skin abnormalities, small jaw and muscle contractures.

Perimyositis

Perimyositis: Inflammation of tissue surrounding muscles

Periodic fever, aphthous stomatitis,pharyngitis and adenitis

Periodic fever, aphthous stomatitis, pharyngitis and adenitis or periodic fever aphthous pharyngitis and cervical adenopathy (PFAPA) syndrome is a medical condition, typically starting in young children, in which high fever occurs periodically at intervals of about 3–5 weeks, frequently accompanied by aphthous-like ulcers, pharyngitis and/or cervical adenitis (cervical lymphadenopathy). The syndrome was described in 1987 and named two years later.

Peripheral T-Cell Lymphoma

Peripheral T-cell lymphoma (PTCL) is a rare, aggressive type of non-Hodgkin lymphoma that develops from mature T-cells or natural killer (NK) cells, typically outside of the bone marrow, and is characterized by a diverse range of subtypes.

PTCLs are relatively rare, accounting for about 5-10% of all non-Hodgkin lymphomas, and are often considered aggressive, meaning they tend to grow and spread quickly.

PTCLs develop from mature T-cells and NK cells that are found in lymphoid tissues outside of the bone marrow, such as lymph nodes, spleen, gastrointestinal tract, and skin.

There are numerous subtypes of PTCL, including PTCL-not otherwise specified (PTCL-NOS), angioimmunoblastic T-cell lymphoma (AITL), and anaplastic large cell lymphoma (ALCL)

Perivascular epithelioid cell tumor

Perivascular epithelioid cell tumour, also known as PEComa or PEC tumour, is a family of mesenchymal tumours consisting of perivascular epithelioid cells (PECs).These are rare tumours that can occur in any part of the human body.

The cell type from which these tumours originate remains unknown. Normally, no perivascular epitheloid cells exist; the name refers to the characteristics of the tumour when examined under the microscope.

Establishing the malignant potential of these tumours remains challenging although criteria have been suggested; some PEComas display malignant features whereas others can cautiously be labeled as having ‘uncertain malignant potential’. The most common tumours in the PEComa family are renal angiomyolipoma and pulmonary lymphangioleiomyomatosis, both of which are more common in patients with tuberous sclerosis complex. The genes responsible for this multi-system genetic disease have also been implicated in other PEComas.

Many PEComa types shows a female predominance in the sex ratio.