Inclusion body myositis (IBM) is a rare inflammatory muscular disorder that usually becomes apparent during adulthood. The disorder presents as slow progressive weakness and withering away (atrophy) of the muscles (myositis), especially of the arms and legs. Inclusion body myositis frequently is diagnosed when a patient is unresponsive to therapy prescribed for polymyositis.
nclusion conjunctivitis: Inflammation of the conjunctiva of the eye by the bacterium Chlamydia trachomatis which is a sexually transmitted pathogen. The infection can occur in newborns while passing through an infected birth canal. Adult infections tend to be transmitted to the eye from the infected genitals via the hands. Infected swimming ppols or hot tubs may also be a source of infection.
Incontinentia pigmenti (IP, Bloch–Siemens syndrome, Bloch–Sulzberger disease, Bloch–Sulzberger syndrome, melanoblastosis cutis, nevus pigmentosus systematicus ), is a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system. It is named due to its microscopic appearance.
Mastocytosis is a rare disease characterized by proliferation and accumulation of mast cells in various tissues, causing a wide variety of clinical symptoms. Indolent systemic mastocytosis, including the subvariant of smouldering systemic mastocytosis, is a lifelong condition associated with reduced quality-of-life.
Mastocytosis can be categorized into cutaneous mastocytosis and systemic mastocytosis. Systemic mastocytosis (SM) can be further categorized into indolent SM, smouldering SM and aggressive SM. Patients with indolent SM or smouldering SM have a (nearly) normal life expectancy, while patients with aggressive SM have a median overall survival of approximately 4 years.
There is a high unmet need in indolent systemic mastocytosis (ISM) and smouldering systemic mastocytosis (SSM) for new therapeutic options with demonstrated activity on severe symptoms and adequate safety profile for a life-long treatment. Masitinib is the leading program in ISM and a viable approach to this goal.
Infant epilepsy with migrant focal crisis: A rare disorder characterized by infant epilepsy and progressive brain disease.
Infantile apnea: A disorder where infants stop breathing temporarily.
Infantile axonal neuropathy: A very rare form of progressive nerve damage that starts early in life. The central nervous system is also usually involved.
Infantile convulsions and paroxysmal choreoathetosis, familial: A very rare inherited syndrome characterized mainly by convulsions during infancy and choreoathetosis which can occur randomly or be triggered by certain stimuli such as exercise.
Infantile (early-onset) Cystinosis. Infants with cystinosis might have no noticeable symptoms at first. However, by 6 – 12 months of age, problems start to appear, including below-average growth, feeding intolerance (picky eating and/or fussiness), frequent urination, and periods of dehydration (constant thirst).
Infantile digital fibromatosis (medical condition): A rare disorder where firm pink nodules develop mainly on the fingers and toes of infants. Often they are present at birth. There is no determined cause but it is considered a harmless condition. Often the lumps disappear on their own and others can be surgically removed but they often recur.
Infantile dysphagia: Swallowing problems in infants.
Infantile multisystem inflammatory disease (also known as Neonatal onset multisystem inflammatory disease (NOMID); chronic infantile neurologic, cutaneous, and articular syndrome; Prieur-Griscelli syndrome):is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder.
Source: Genetic Home Reference
Infantile myofibromatosis: A benign fibrous tumor that usually occurs in children or infants. The tumor is not cancerous but the location and size of the tumor can cause problems and even death in some cases if certain organs are involved. Tumors can occur in the skin, muscle, internal organs and bone.
Infantile myopathies are associated with severe cytochrome c oxidase (COX) deficiency. These are transmitted as autosomal recessive traits, but the affected genes remain unknown.
Source: Salvatore Di Mauro et al., Mitochondrial Myopathies, Basic Appl Myol 13 (3): 145-155, 2003
Infantile myopathies are associated with severe cytochrome c oxidase (COX) deficiency. These are transmitted as autosomal recessive traits, but the affected genes remain unknown.
The infantile myopathy and lactic acidosis is a primary mitochondrial disease, consequence of dysfunctions of both mitochondrial and nuclear genes either separately or in combination. As a result, oxidative phosphorylation is defective.
The disease results from a congenital defect in COX. Defects in cytochrome-c oxidase caused by mutations in the SCO2 result in the fatal infantile cardioencephalomyopathy.
Sources:
1. Salvatore Di Mauro et al., Mitochondrial Myopathies, Basic Appl Myol 13 (3): 145-155, 2003
2. Prof. Isidro Ferrer, Institut Neuropatologia, Servei Anatomia Patològica, IDIBELL-Hospital Universitari de Bellvitge, Universitat de Barcelona, CIBERNED, Hospitalet de LLobregat; Spain
3. U.S. National Library of Medicine, http://www.nlm.nih.gov/
Infantile myopathies are associated with severe cytochrome c oxidase (COX) deficiency. These are transmitted as autosomal recessive traits, but the affected genes remain unknown.
Source: Salvatore Di Mauro et al., Mitochondrial Myopathies, Basic Appl Myol 13 (3): 145-155, 2003
Infantile neuroaxonal dystrophy (neuroaxonal dystrophy infantile) is a rare pervasive developmental disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. Eventually they lose previously acquired skills.
Infantile onset spinocerebellar ataxia: A rare disorder that has neurological origins and causes progressive ataxia, impaired tendon reflexes, abnormal limb movements, and sensory, eye muscle and hearing impairment.
Infantile polymyoclonus: A rare disorder characterized by involuntary muscle jerking and rapid eye movements. The condition is not progressive and symptoms go through periods of improvement and deterioration.
Infantile recurrent chronic multifocal osteomyolitis: A rare disorder characterized by recurring periods of inflammation. The cause is undetermined and tends to affect mostly children. It is often associated with certain autoimmune diseases such as psoriasis and Wegener's granulomatosis.
Infantile sialic acid storage disorder: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. The disorder results in death within the first few years of life - usually in infancy.
Infantile spasms - broad thumbs: A very rare syndrome characterized mainly by spasms during infancy and broad thumbs.
Infantile striato-thalamic degeneration: A very rare disorder involving degeneration of part of the brain - thalamus and striatum.
Infection with Mycobacterium marinum: An infectious disease caused by a bacterium called Mycobacterium marinum which can infect fish and humans. It is often transmitted through contact with contaminated fresh or salt water e.g. handling water in aquariums or swimming.
Infectious arthritis: This is a general term used to describe forms of arthritis that are caused by infectious agents, such as bacteria or viruses. A rare condition where arthritis occurs as a result of joint infection by a bacteria, virus or fungus. Symptoms vary according to the infection type.
Infectious myocarditis: Inflammation of the muscle of the heart (myocardium) due to an infection. It often occurs as a complication of various bacterial, viral or parasitic infections such as rubella, polio and rheumatic fever.
Infective endocarditis: The infection and inflammation of the inner heart layers, especially the valves. The infection is usually bacterial. The condition carries a high risk of death.
Infective myositis: Inflammation of the skeletal muscles due to any type of infection - bacterial, viral or parasitic.
Inflammatory breast cancer is a rare but very aggressive type of breast cancer in which the cancer cells block the lymph vessels in the skin of the breast. This type of breast cancer is called “inflammatory” because the breast often looks swollen and red, or “inflamed.” IBC accounts for 1 to 5 percent of all breast cancer cases in the United States (1). It tends to be diagnosed in younger women compared to non-IBC breast cancer. It occurs more frequently and at a younger age in African Americans than in Whites. Like other types of breast cancer, IBC can occur in men, but usually at an older age than in women. Some studies have shown an association between family history of breast cancer and IBC, but more studies are needed to draw firm conclusions (2).