Diseases

Scleromyxedema

Scleromyxedema, also known as lichen myxedematosus or papular mucinosis, is a rare disease that causes skin to become thick and hard, but appears ample rather than tight, as with most forms of scleroderma. It is a chronic connective tissue disorder where deposits of mucin form in the skin causing it to become red and raised. This makes moving affected areas difficult, and often causes disfiguration in the affected areas. The arms, legs, fingers, and face are the predominant areas that are affected by scleromyxedema (Lichen Myxedematosus, Elizabeth A Liotta, M.D., Assistant Professor, Department of Dermatology, Uniformed Services University of the Health Sciences). Severe cases of the scleromyxedema make breathing hard when it affects the lungs and blood circulation limited when it affects the heart. When either of these two components are present, a patient’s prognosis becomes poor.

Sclerosing mesenteritis

A rare disorder that affects the lining of the digestive tract. The lining of the small bowel mesentery (membrane that joins small intestine to back of abdominal wall) becomes thickened and inflamed. The condition may be mild or severe enough to cause death. It may occur for no apparent reason or may be associated with previous abdominal surgery and certain inflammatory disorders such as sclerosing cholangitis.

sclerosing mucoepidermoid carcinoma with eosinophilia

is a recently described carcinoma of the thyroid gland associated with Hashimoto's thyroiditis and considered to have a relatively indolent clinical course. SMCE is characterized by extensive sclerosis, squamous and glandular differentiation, a concomitant inflammatory infiltrate rich in eosinophils, and a background of lymphocytic thyroiditis.

Sclerosteosis

A rare genetic disorder characterized by syndactyly and thickening and overgrowth of bone.

Sclerotylosis

A rare inherited disorder characterized by a skin disorder (atrophic skin fibrosis and keratoderma of the palms and soles), underdeveloped nails and bowel cancer .

Scoliosis as part of NF

Spinal curvature associated with a condition called neurofibromatosis. Roughly a quarter of patients with neurofibromatosis will develop scoliosis. Neurofibromatosis is a rare genetic disorder characterized by areas of increased and decreased skin pigmentation and the development of many benign nerve and skin tumors. The scoliosis may become severe enough to affect heart and lung function or may be relatively mild.

Scoliosis with unilateral unsegmented bar

Abnormal spinal development where two or more vertebrae fail to separate on one side of the spine which causes the spine to curve. Thus several vertebrae are fused on one side of the spine. As the individual grows, the spine becomes increasingly curved to the point where lung and heart function may be affected.

Scott Bryant Graham syndrome

Scott Bryant Graham syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Scott Bryant Graham syndrome, or a subtype of Scott Bryant Graham syndrome, affects less than 200,000 people in the US population.

Scott syndrome

A very rare inherited syndrome characterized by head and digital abnormalities as well as mental retardation.

Sea-Blue histiocytosis

A rare condition involving the presence of too many histiocytes in the spleen and bone marrow. These histiocytes stain a sea-blue color during testing. These abnormal staining histiocytes have been noted in several diseases such as Niemann-Pick disease, lipid metabolism disorders and Norum disease.

Seaver Cassidy syndrome

A very rare syndrome characterized mainly by loose joints, facial anomalies and a shawl scrotum.

Sebastian syndrome

Sebastian syndrome is an extremely rare genetic disease that results in impaired blood clotting function and abnormal platelet formation. Another name for Sebastian syndrome is autosomal dominant macrothrombocytopenia with leukocyte inclusions.

Sebocystomatosis

A rare inherited disorder characterized by the presence of teeth at birth and the development of numerous skin cysts that may contain a thick substance called sebum. The cysts occur mainly on the chest, abdomen and front of neck.

Secernentea Infections

Infection with a type of parasitic nematode (worm). The symptoms are highly variable depending on where the worm migrates to through out the body and which particular species is involved. Some examples of nematodes are Wuchereria, Spirurina, Mansonella, Drucunculus, Loa and Ascaris.

Seckel syndrome 1

Seckel syndrome is a rare inherited disorder mainly involving retarded growth, mental retardation, small head and a facial appearance resembling a bird. It is often referred to as bird-headed dwarfism. There are three subtypes of the disorder. Additional variable symptoms may also occur.

Seckel syndrome 2

Seckel syndrome is a rare inherited disorder mainly involving retarded growth, mental retardation, small head and a facial appearance resembling a bird. It is often referred to as bird-headed dwarfism. There are three subtypes of the disorder. Type 2 tends to have less severe motor and mental retardation and the head is not small. Type 2 also involves at least one café au lait spot. Additional variable symptoms may also occur.

Secondary Hemophagocytic Lymphohistiocytosis

Secondary Hemophagocytic Lymphohistiocytosis (sHLH) is a severe, life-threatening syndrome of hyperinflammation triggered by an underlying medical condition, such as a severe infection, malignancy, or autoimmune disease. It occurs when the immune system is overactivated, leading to a “cytokine storm” and excessive activation of macrophages and lymphocytes that damage tissues and organs. Treatment involves controlling the immune response with immunosuppressants, corticosteroids, or chemotherapy, while also treating the underlying trigger.  

Secondary pulmonary hypertension

Increased blood pressure in blood vessels that carry deoxygenated blood from the heart to the lungs (pulmonary artery). The increased blood pressure is due to any of a number of diseases that restricts blood flow through the lung and hence builds pressure in the pulmonary artery leading to it.

Seemanova Lesny syndrome

A rare disorder characterized by spasticity, seizures, absent abdominal reflexes, small head and mental retardation.

Segawa syndrome- autosomal recessive

A very rare birth disorder characterized mainly by involuntary jerky movements that start during infancy. The disorder is caused by a genetic defect resulting in a deficiency of an enzyme called tyrosine hydroxylase. The disorder is usually treatable by administering low doses of L-DOPA medication.

Seghers syndrome

A very rare syndrome characterized mainly by spinal abnormalities and abnormal throat development where the throat opening at the back of the mouth is absent.