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 …

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 …