Category: Rare Diseases

Acoustic neuroma is a rare benign tumor arising on the vestibular branch of VIII cranial nerve. This nerve leads from brain to inner ear. The nerve is involved in two functions; transmission of sound from inner ear to brain and …

Mesothelioma is a cancer originating out of mesothelial cells. It is a rare cancer that accounts for 1 percent of all cancers. Mesothelium is a thin layered tissue that lines almost all major internal organs such as the pleura of …

Lambert-eaton myasthenic syndrome (LEMS) is a rare syndrome which usually occurs in association with small cell lung cancer. It is an autoimmune disease.  In LEMS the immune system attacks the nerve synapse or the area between the nerve and muscle. …

Polyarteritis nodosa (PAN) is a rare vascular disease characterized by inflammation in blood vessel (Vasculitis) mostly in adult population. Primarily middle sized arteries are affected. Inflammation in the arteries can reduce blood supply to the tissues and organs resulting in …

Cogan’s syndrome is a rare disease causing inflammatory changes in eyes and ears. The main symptoms of this disorder are vision problem, loss of hearing and dizziness as it affects eyes and ears. There can be concomitant inflammation in blood …

Churg strauss syndrome is disease characterized by inflammation blood vessels. This rare disorder is also known as allergic angiitis. The two pathologists Churg and Strauss were first to describe the disorder in 1951, hence the name. It is an uncommon …

Myelofibrosis is a rare blood cancer that originates in the bone marrow. The disorder is characterized by disruption in production of normal blood cells. The disease causes fibrous scarring in bone marrow, which further leads to anemia, fatigue, and spleen …

Merkel cell carcinoma is a rare skin cancer. It mostly occurs in elderly immune-compromised people, mainly Caucasian males. Merkel cells are located at the base of upper skin layer called epidermis. They are present either as single cell or in …

Splenic lymphoma is a rare type of cancer of spleen and bone marrow. It is also labeled as splenic marginal zone lymphoma. Lymphoma is of two varieties, non Hodgkin and Hodgkin lymphoma. Splenic lymphoma is B-cell non-Hodgkin lymphoma. Usually the …

Omphalocele is a rare birth defect of the abdomen in which the intestine or abdominal organs project out from the abdominal muscles and through the belly button. The condition occurs approximately in one out of 7000 to 10000 live births. …

Brain abscess is defined as a localized suppurative area within the brain. It is rare but serious infection mainly caused by bacteria and sometimes by other pathogens such as viruses and fungi. The pathogen may enter into the brain directly …

Pick disease is a rare disease of brain that leads to progressive and irreversible dementia. The disease has many similarities with Alzheimer’s disease, but it is less common than the Alzheimer’s disease. Pick disease is also known as fronto-temporal dementia. …

Guillain- Barre Syndrome (GBS) is a rare autoimmune disease affecting the nervous system of body. The disease was first described by French army neurologist in 1916. It has an incidence of 1in 100000 people. In this disease the immune system …

Williams syndrome is a rare genetic disease affecting multiple system in the body. The disease affects 1 in every 20000 live births. Williams syndrome is characterized by several bodily problems such as congenital heart disease, narrowing of blood vessels, developmental …

Confluent and reticulated papillomatosis (CRP) is a rare benign skin condition characterized by brown flat bumps on skin surface taking a reticulated appearance. The condition is also called as Gougerot-Carteaud syndrome who originally described this condition in 1927. The brown …

Cerebral cavernous malformation is cluster of abnormal thin walled blood vessels (capillaries) present in the brain. The abnormal capillaries are structurally dilated, enlarged, and thin with slow moving blood. Hence the capillaries are prone to leak blood leading to devastating …

Aarskog syndrome is a rare hereditary genetic condition having characteristic features such as stunted growth, abnormal facial features, abnormality of bones and muscles besides genitalia. This disorder mainly affects males. Some females may develop milder features of aarskog syndrome. The …

Monkeypox infection is a rare condition caused by monkeypox virus. This virus belongs to the same family of orthopoxvirus which also includes smallpox and cowpox virus; however it is not as serious as smallpox infection. Monkeypox virus was first detected …

Hunter syndrome is a rare familial disorder in which there is an abnormal buildup of long chain of mucopolysaccharide instead of its breaking down in the body. It is hence also called mucopolysaccharidosis II disease. There is absence of an …

Alport syndrome is a genetically inherited condition which causes kidney malfunction, ocular and hearing defect. It is a rare disease affecting 1 in 50000 live births. The disease is characterized by progressive kidney damage. Almost all people with alport syndrome …