Diseases

Diseases

Contributors in Diseases

Diseases

Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. A point mutation of the p53 tumor suppressor gene apparently predisposes family members who ...

Behcet syndrome

Health care; Diseases

Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. ...

sea-blue histiocyte syndrome

Health care; Diseases

Rare disorder consisting of splenomegaly, mild purpura secondary to thrombocytopenia, and occasionally, hepatic cirrhosis associated with the appearance of numerous histiocytes in the spleen and bone ...

benign familial pemphigus

Health care; Diseases

Rare hereditary disease characterized by recurrent eruptions of vesicles and bullae mainly on the neck, axillae, and groin. It exhibits autosomal dominant inheritance and is unrelated to pemphigus ...

ganglioglioma

Health care; Diseases

Rare indolent tumors comprised of neoplastic glial and neuronal cells which occur primarily in children and young adults. Benign lesions tend to be associated with long survival unless the tumor ...

gliosarcoma

Health care; Diseases

Rare mixed tumors of the brain and rarely the spinal cord which contain malignant neuroectodermal (glial) and mesenchymal components, including spindle-shaped fibrosarcoma cells. These tumors are ...

Sjogren-Larsson syndrome

Health care; Diseases

Rare syndrome of autosomal recessive inheritance characterized by ichthyosis, mental retardation, and spastic pyramidal symptoms. It is associated with a defect in fatty alcohol metabolism.