Lindsay-Burn syndrome: A very rare syndrome characterized mainly by mental retardation, psychosis and enlarged testes. Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Lindsay-Burn syndrome as a "rare disease".
Cowden's disease An AD condition characterized by ↑ susceptibility to ectodermal, mesodermal, endodermal mucocutaneous hamartomas, as well as malignancies–eg, papillary or follicular thyroid CA, breast CA, osteosarcoma. Cf Chromosomal breakage syndromes, Li-Fraumani syndrome.
Porokeratosis is a clonal disorder of keratinization characterized by 1 or more atrophic patches surrounded by a clinically and histologically distinctive ridgelike border called the cornoid lamella. Five clinical variants of porokeratosis are recognized: classic porokeratosis of Mibelli (PM), disseminated superficial actinic porokeratosis (DSAP), porokeratosis palmaris et plantaris disseminata (PPPD), linear porokeratosis, and punctate porokeratosis. Several other variants have been described, including hyperkeratosis types, a pruritic papular variant, and an unusual verrucous variant that is localized to the buttocks and mimics psoriasis. Occasionally, a patient may develop more than one type of porokeratosis
A rare autoimmune connective tissue disease characterized by the development of bands of hard skin across face or on a single arm or leg. Muscle or bone may also be involved but it rarely affects growth or causes deformity. The condition is a rare autoimmune connective tissue disease where the body attacks parts of the body and causes scarring and thickness of the tissue.
Cancer of the lip and oral cavity is a disease in which cancerous (malignant) cells are found in the tissues of the lip or mouth. The oral cavity includes the: front two-thirds of the tongue upper and lower gums (the gingiva) lining of the inside of the cheeks and lips (the buccal mucosa) bottom (floor) of the mouth under the tongue bony top of the mouth (the hard palate) small area behind the wisdom teeth (the retromolar trigone)
Metabolic myopathies refer to a group of hereditary muscle disorders caused by enzymatic defects due to defective gene insult. Metabolic myopathies are heterogeneous conditions that have common abnormalities of muscle energy metabolism that result in skeletal muscle dysfunction. Most recognized metabolic myopathies are considered primary inborn errors of metabolism and are associated with known or postulated enzymatic defects that affect the ability of muscle fibers to maintain adequate adenosine triphosphate (ATP) concentrations. Traditionally, these diseases are grouped into abnormalities of glycogen, lipid, purine, or mitochondrial biochemistry.
Lipidosis with triglyceride storage disease: A very disorder involving abnormal storage of fat (triglycerides in parts of the body). The condition causes blood abnormalities as well as skin, eye and hearing problems. More detailed information about the symptoms, causes, and treatments of Lipidosis with triglyceride storage disease is available below.
Lipoamide dehydrogenase deficiency: A very rare enzyme deficiency (dihydrolipoamide dehydrogenase) which can cause lactic acidosis. The age of onset and symptoms are variable. More detailed information about the symptoms, causes, and treatments of Lipoamide dehydrogenase deficiency is available below.
Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules: A rare inherited disorder characterized by loss of fat under the skin, diabetes, heart muscle disease, fatty liver. More detailed information about the symptoms, causes, and treatments of Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules is available below.
Lipodermatosclerosis (medical condition): A rare condition that affects the skin above the ankles. It tends to occur in people with chronic vein problems which affects the blood flow the this area of skin. The skin becomes smooth, brown, tight and painful.
Lipodystrophy or lipoatrophy is primary idiopathic atrophy of adipose tissue. Lipodystrophy is a very rare disorder of unknown etiology.
A rare metabolic disorder involving abnormal fat gradually disappears from the limbs, trunk and buttocks but stays the same or accumulates on areas such as the face, shoulders, neck and genitals. More detailed information about the symptoms, causes, and treatments of Lipodystrophy, familial partial, type 3 (FPLD3) is available below.
Lipogranulomatosis (medical condition): A condition where abnormal lipid metabolism results in the development of yellow liquid-filled nodules in the skin and mucosal linings. The tissue surrounding the nodules can become inflamed as a result of these abnormal deposits. Symptoms are variable depending on the number and location of the nodules
Lipoid congenital adrenal hyperplasia: A rare form of congenital adrenal hyperplasia where the early phase of adrenal cortisol production is defective which causes mineralocorticoid deficiency. Male pseudohermaphroditism
Lipoid proteinosis of Urbach and Wiethe: A rare congenital lipoid storage disease where lipids, carbohydrates and proteins are deposited onto blood vessel walls and other tissues. More detailed information about the symptoms, causes, and treatments of Lipoid proteinosis of Urbach and Wiethe is available below
A rare disorder involving defective fat metabolism which leads to a buildup of fat deposits in neck and shoulder area. Mainly occurs in male alcoholics.
A rare slow-growing tumor that tends to occur mainly in deep in the thigh or in the retroperitoneum (space between the abdominal organs and the back of the abdominal space). Symptoms are determined by the size and location of the tumor. More detailed information about the symptoms, causes, and treatments of Lipomatous hemangiopericytoma is available below.
A lipomyelomeningocele (pronounced lipo-myelo-men-IN-go-seal) is a birth defect of a child’s spine. It is a fatty mass starting under the skin on the child’s back, usually in the middle. The mass extends inward to the spinal canal. It is covered in skin and is usually visible from outside the child’s body. The two biggest problems with lipomyelomeningocele in children are: 1. The spinal cord is stuck (fixed) to the fatty mass 2. The fatty mass puts pressure on the spinal cord
Abnormal lipoprotein use or processing by the body. The main repercussions of the disorder tends to be fatty deposits called xanthomas and premature heart disease. Examples of specific lipoprotein disorders includes type II hyperlipoproteinemia, hypoalphalipoproteinemia, hypertriglyceridemia and high lipoprotein a levels. Lipoprotein disorders can also result in harmfully low levels of lipoproteins which can cause symptoms such as failure to thrive and neuromuscular degeneration. Abetalipoproteinemia is an example of a lipoprotein disorder involving low blood lipoprotein levels. More detailed information about the symptoms, causes, and treatments of Lipoprotein disorder is available below.
Liposarcoma is a malignant tumor that arises in fat cells in deep soft tissue, such as that inside the thigh or in the retroperitoneum. Liposarcoma is a rare type of cancer that bears a resemblance to fat cells when examined under a microscope.
They are typically large bulky tumors, and tend to have multiple smaller satellites that extend beyond the main confines of the tumor.
Liposarcomas, like all sarcomas, are rare.
Lissencephaly (which literally means smooth brain,), is a rare brain formation disorder caused by defective neuronal migration during the 12th to 24th weeks of gestation resulting in a lack of development of brain folds (gyri) and grooves (sulci). It is a form of cephalic disorder. Terms such as 'agyria' (no gyri) or 'pachygyria' (broad gyri) are used to describe the appearance of the surface of the brain. Children with lissencephaly generally have significant developmental delays, but these vary greatly from child to child depending on the degree of brain malformation and seizure control. Life expectancy can be shortened, generally due to respiratory problems.
Lissencephaly - immunodeficiency: A very rare syndrome characterized mainly by abnormal brain development and a poor immune system. More detailed information about the symptoms, causes, and treatments of Lissencephaly - immunodeficiency is available below.
A very rare form of the brain formation disorder called lissencephaly where the brain surface is abnormally smooth rather than convoluted resulting in mental retardation. Physical malformations are also present. More detailed information about the symptoms, causes, and treatments of Lissencephaly syndrome type 1 is available below.
suggested this designation for a disorder which, like the Miller-Dieker syndrome (247200), is associated with type I lissencephaly but has distinctive associated features.
A rare brain malformation where the surface of the brain is smoother than normal. More detailed information about the symptoms, causes, and treatments of Lissencephaly, isolated is available below.
Listeriosis is an infection caused by the gram-positive motile bacterium Listeria monocytogenes. Listeriosis is relatively rare and occurs primarily in newborn infants, elderly patients, and patients who are immunocompromised.
Listeriosis is a bacterial infection most commonly caused by Listeria monocytogenes, although L. ivanovii and L. grayi have been reported in certain cases. Listeria primarily causes infections of the central nervous system (meningitis, meningoencephalitis, brain abscess, cerebritis) and bacteremia in those who are immunocompromised, pregnant women, and those at the extremes of age (newborns and the elderly), as well as gastroenteritis in healthy persons who have been severely infected. Listeria is ubiquitous and is primarily transmitted via the oral route after ingestion of contaminated food products, after which the organism penetrates the intestinal tract to cause systemic infections. The diagnosis of listeriosis requires the isolation of the organism from the blood and/or the cerebrospinal fluid. Treatment includes prolonged administration of antibiotics, primarily ampicillin and gentamicin, to which the organism is usually susceptible.
Logic syndrome (medical condition): A very rare syndrome characterized mainly by chronic skin ulceration, nail destruction, eye problems and mucosal nodules that can affect the voice and even impair breathing in severe cases.