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 …

Intramuscular myxoma is a rare soft tissue tumor developing in the skeletal muscles of the body. Myxomas are benign growths. They can develop in different locations such as the bones, heart, subcutaneous tissue, and the skeletal muscles. When it occurs …

Bilateral renal agenesis is a rare congenital condition in which both the kidney are absent in the fetus. It is an uncommon condition. According to an estimate bilateral renal agenesis occurs in one out of ten thousand pregnancies. The most …

Dandy walker malformation is a congenital disease of brain affecting the cerebellum and the fourth ventricle. Its description was first presented by Dandy and Blackfan. It is a rare disease usually detected in first few months after birth.

This malformation …

Recurrent respiratory papillomatosis is relatively rare disease with clinical presentation of symptoms that range from severe hoarseness to breathlessness. The disease is characterized by small wart like growths (papillomas) within the respiratory tract. It can thus be present in nose, …

Parapsoriasis is a rare skin disease having clinical resemblance to psoriasis but there is no relation between the two diseases. Parapsoriasis is an inflammatory skin condition. Parapsoriasis are of two types, small plaque and large plaque parapsoriasis. Small plaque is …

Wilson’s disease is a rare genetic disease characterized by excessive accumulation of copper in vital organs such as liver, brain, eyes and other vital organs. Normally the body needs small amount of copper for maintaining good health. Body gets the …

Cranioectodermal dysplasia is a genetic disorder affecting different parts of body. It is a rare disease displaying abnormality of bones and ectodermal tissues such as hair, skin, nails, and teeth. Also known by other names such as Sensenbrenner syndrome and …

Alveolar rhabdomyosarcoma (ARMS) is an uncommon, rare cancerous tumor originating from the skeletal muscles of body. Sarcomas are cancerous tumor that develops from connective tissues such as muscles, fats, bones etc. There are wide varieties of sarcomas; rhabdomyosarcoma is tumor …

Hereditary elliptocytosis is a rare hereditary congenital disease in which the shape of red blood cell is abnormal. The shape is abnormally oval. It is caused by loss of gene due to mutation on chromosome 17. Family history of this …

Kabuki syndrome is a rare type of congenital disorder which was first identified and described by two Japanese scientists named Kuroki and Niikawa in the year 1981. In this disorder the child is born with distinct facial and other physical …

Mondor’s disease is a rare disorder characterized by inflammation and hardening of superficial vein under the skin of anterior chest wall and breast. The disease is named after Henry Mondor who first described the condition in detail as a separate …

Corticosterone methyl oxidase deficiency is rare genetic disease in which too much of sodium is lost through urine and excess retention of potassium. This imbalance of the vital electrolytes causes low level of sodium in blood (hyponatremia) and high rise …

Porpyria is a group of disorder in which there is accumulation of porphyrin, a type of chemical that is essential for proper functioning of hemoglobin. Too much of porphyrin can cause serious problems mainly affecting the nervous system, skin and …

What Is Progeria?

  • Progeria is a rare genetic disorder characterized by features of premature aging of the child. This disease is also known by other names such as Hutchison-Gliford progeria syndrome or premature aging syndrome.
  • The appearance of child during

Summary Of Ameloblastoma

  • Ameloblastoma is a rare benign but aggressive tumor of jaw bone and soft gingival tissue.
  • Due to its aggressive nature, it can cause destruction of the jaw bone.
  • Almost 1 to 3 percent of all jaw tumors

Kienbock’s disease is a rare disease caused due to avascular necrosis of lunate bone. Lunate bone is one of the eight carpal bones located in the wrist joint. The hand and forearm is connected with carpal bones at the wrist. …

Protein losing enteropathy is a rare condition in which there is loss of serum protein from the gut lining leading to symptoms of hypoproteinemia. It causes low protein level in blood, edema in legs, fluid accumulation in abdomen (ascites), pleural …

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare and serious disorder of blood. This acquired disease is characterized by breakdown of red blood cells, clotting of blood in the vessels and impaired functioning of the bone marrow which is responsible for …