Category: Rare Diseases

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 …

Moebius syndrome is a rare congenital disorder that occurs due to defective development of certain cranial nerve that control movement of eyes and expression on face. In this disorder mostly the VI and VII cranial nerves are affected. Facial paralysis …

Kaposi’s sarcoma is a rare cancer of soft tissue which grows in the cellular lining of blood vessels and lymph. Kaposi’s sarcoma is mostly seen under the skin, mouth, throat, and in deeper organs such as lungs, intestine, kidneys, liver …

Hypophosphatasia (HPP) is a rare inherited genetic metabolic disorder affecting mineralization of bones and teeth. It is a progressive disorder caused by mutation of ALPL gene. The severity of the disease may vary widely from frequent fractures to fetal death. …

Juvenile polyposis syndrome (JPS) is a rare hereditary disorder characterized by formation of polyps in the gastrointestinal tract. These benign growths can develop anywhere in the lining of GI tract, from stomach to rectum, but mainly they develop in the …

Goodpasture syndrome is a rare autoimmune disease affecting kidney and lungs. The disease develops when the immune system of body mistakenly starts attacking the lung membrane and filtering apparatus of kidneys. Earnest Goodpasture was the first person to describe this …

Pheochromocytoma is a rare tumor of adrenal gland. In majority of cases the tumor is benign. Adrenal gland is located on top of each kidney. The gland consists of two parts, the outer is called cortex and inner is known …

Choroideremia is rare genetic eye disease that leads to gradual loss of vision in the affected individual. It is an X-linked condition which affects only men. The key risk factor is family history of choroideremia. Choroid is located in the …

Lichen aureus is a rare skin condition of unknown etiology. It is a chronic skin disease first described by Martin in 1958. The disease is characterized by golden yellow pigmented patches particularly occurring on legs. It can sometime spread to …