Craniosynostosis, is a medical condition in which some or all of the sutures in the skull of an infant or child close too early, causing problems with normal brain and skull growth. It can result in craniostenosis, which is the skull deformity caused by the premature closure of the cranial sutures. Also intracranial pressure can be increased.
Primary cutaneous amyloidosis: A rare disorder where a substance called amyloid is deposited in the skin resulting in discolored bumps or nodules in the skin. No other body organs are involved.
Primary effusion lymphoma: A cancerous proliferation of lymphocytic B-cells caused by the human herpesvirus 8 (HHV-8, Kaposi's sarcoma-associated herpesvirus). It is more prevalent in immunodeficient people such as AIDS patients. The cancer tends to occur in the lining of body cavities such as the pericardium and peritoneum. The cancerous cells are detected in the fluid secreted from the lining of the cavity.
primary familial xanthomatosis with adrenal calcification - also known as or related to primary familial xanthomatosis, acid lipase deficiency, acid esterase deficiency, lysosomal acid lipase deficiency, wolman xanthomatosis, wolman's disease (disorder)
Primary granulocytic sarcoma: A malignant tumor derived from immature white blood cells called myeloblasts. It can occur anywhere in the body but is most commonly found in bone, soft tissue, lymph nodes and skin. Symptoms will vary according to the location of the tumor.
Primary Humoral Immunodeficiency (hPID) refers to a group of hereditary conditions where a person’s immune system, specifically B cells and antibody production, doesn’t work correctly, leading to an increased susceptibility to recurrent or severe infections. These genetic disorders result in problems like decreased antibody levels (hypogammaglobulinemia) or the inability to fight infections effectively, often affecting the sinopulmonary tract (lungs and sinuses). Early diagnosis and treatment are crucial to prevent severe complications and improve health outcomes.
Primary hyperoxaluria type 1 is a rare condition that arises due to a mutation in the AGXT gene. AGXT codes for an enzyme that removes oxalate. However, the mutation leads to the production of alanine-glyoxylate aminotransferase (AGXT) that does not function properly.
Primary hyperoxaluria type 1 is characterized by the buildup of a substance called oxalate, which normally is filtered through the kidneys and excreted in the urine. In people with PH1, the accumulated oxalate is deposited in the kidneys and urinary tract. It combines with calcium to form the main component of kidney and bladder stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs.
Primary hyeroxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs.
Primary hyperoxaluria type 2 is caused by the shortage (deficiency) of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR) that normally prevents the buildup of oxalate. This enzyme shortage is caused by mutations in the GRHPR gene. Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern
IC-MPGN, also known as MPGN, is a type of glomerular disease where the glomeruli, responsible for filtering waste and excess fluid from the blood, become inflamed and damaged. This damage is caused by immune complexes, which are essentially clumps of antibodies and antigens, that get stuck in the glomeruli. The activation of the complement system, a part of the immune system, by these immune complexes leads to further inflammation and damage.
Primary immunodeficiency disorders (also called primary immune disorders or primary immunodeficiency) weaken the immune system, allowing infections and other health problems to occur more easily.
Many people with primary immunodeficiency are born missing some of the body's immune defenses, which leaves them more susceptible to germs that can cause infections.
Some forms of primary immunodeficiency are so mild they may go unnoticed for years. Other types are severe enough that they're discovered almost as soon as an affected baby is born.
Primary malignant lymphoma: The excessive proliferation of lymphocytes which forms part of the immune system. Primary cancers refer to the fact that the cancer originated in the lymph cells rather than having metastasized.
Melanoma of the cervix is a rare and aggressive neoplasia. About 60% of the cases already had clinical evidence of tumor beyond the cervix at the time of diagnosis2,3 and the 5-year survival rate decreases from 40% for Stage I to 14% for other stages.4 Due to the rarity of the primary melanoma of the cervix, the possibility of metastatic neoplasia coming from a melanoma at a different site, or which may have been treated several years before, must always be investigated. In some cases it is impossible to locate the primary site of the disease. The case described did not have a history of any other melanoma, the largest tumoral volume being in the uterine cervix and spreading to the vagina. Moreover, the lentiginous pigmented malignant neoplasia of the vagina, with its in situ melanoma and focus of superficial invasion, is conclusive as to its primary origin in the lower genital tract.
Primary membranous nephropathy (pMN) is an auto-immune disease characterized by auto-antibodies targeting podocyte antigens resulting in activation of complement and damage to the glomerular basement membrane
Primary mitochondrial diseases (PMD) are mitochondrial disorders caused by germline mutations in mtDNA and/or nDNA genes that encode either OXPHOS structural proteins or mitochondrial proteins of the complex machinery needed to carry out the OXPHOS process.
Primary open angle glaucoma juvenile onset 1: A inherited form of open-angle glaucoma caused by a genetic mutation.
Primary orthostatic tremor: A rare movement disorder where rapid tremors occur in the legs when standing. The disorder occurs on its own and is not associated with any condition or disease. Patients have difficulty standing still but have no trouble walking.
Primary progressive aphasia (PPA) is a type of neurological syndrome in which language capabilities slowly and progressively become impaired while other mental functions remain intact. It was first described as a distinct syndrome by M.-Marsel Mesulam in 1982. Primary Progressive Aphasias have a clinical and pathological overlap with the Frontotemporal Lobar Degeneration (FTLD) spectrum of disorders and Alzheimer's disease.
Primary sclerosing cholangitis is a condition that affects the bile ducts. These ducts carry bile (a fluid that helps to digest fats) from the liver, where bile is produced, to the gallbladder, where it is stored, and to the small intestine, where it aids in digestion. Primary sclerosing cholangitis occurs because of inflammation in the bile ducts (cholangitis) that leads to scarring (sclerosis) and narrowing of the ducts. As a result, bile cannot be released to the gallbladder and small intestine, and it builds up in the liver.
Primary sclerosing cholangitis is usually diagnosed around age 40, and for unknown reasons, it affects men twice as often as women. Many people have no signs or symptoms of the condition when they are diagnosed, but routine blood tests reveal liver problems. When apparent, the earliest signs and symptoms of primary sclerosing cholangitis include extreme tiredness (fatigue), discomfort in the abdomen, and severe itchiness (pruritus). As the condition worsens, affected individuals may develop yellowing of the skin and whites of the eyes (jaundice) and an enlarged spleen (splenomegaly). Eventually, the buildup of bile damages the liver cells, causing chronic liver disease (cirrhosis) and liver failure. Without bile available to digest them, fats pass through the body. As a result, weight loss and shortages of vitamins that are absorbed with and stored in fats (fat-soluble vitamins) can occur. A fat-soluble vitamin called vitamin D helps absorb calcium and helps bones harden, and lack of this vitamin can cause thinning of the bones (osteoporosis) in people with primary sclerosing cholangitis.
Primary sclerosing cholangitis is often associated with another condition called inflammatory bowel disease, which is characterized by inflammation of the intestines that causes open sores (ulcers) in the intestines and abdominal pain. However, the reason for this link is unclear. Approximately 70 percent of people with primary sclerosing cholangitis have inflammatory bowel disease, most commonly a form of the condition known as ulcerative colitis. In addition, people with primary sclerosing cholangitis are more likely to have an autoimmune disorder, such as type 1 diabetes, celiac disease, or thyroid disease, than people without the condition. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. People with primary sclerosing cholangitis also have an increased risk of developing cancer, particularly cancer of the bile ducts (cholangiocarcinoma).
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.