Diseases

Spondyloepiphyseal dysplasia tarda

Spondyloepiphyseal dysplasia is a rare hereditary disorder characterized by growth deficiency, spinal malformations, and, in some cases, ocular abnormalities.

Spondyloepiphyseal dysplasia tarda- Toledo type

Spondyloepiphyseal dysplasia tarda, Toledo type: A rare bone development disorder caused by a deficiency of chondroitin sulfate. The short stature tends to be moderate and an eye abnormality is also usually present.

Spondyloepiphyseal dysplasia- congenita

Spondyloepiphyseal dysplasia is a rare hereditary disorder characterized by growth deficiency, spinal malformations, and, in some cases, ocular abnormalities.

Spondyloepiphyseal dysplasia- Omani type

Spondyloepiphyseal dysplasia (SED), Omani type (OMIM 608637) is a recessively inherited skeletal dysplasia previously described in two distantly related families from the Republic of Oman. The phenotype consists of short stature, severe kyphoscoliosis, arthritic joints (elbows, wrists, knees), secondary large joint dislocations, rhizomelia, fusion of carpal bones and mild brachydactyly. Affected individuals were homozygous for a missense mutation, R304Q in CHST3 that encodes the enzyme chondroitin 6-O-sulfotransferase-1 (C6ST-1). This enzyme mediates the sulfation of proteoglycans, particularly chondroitin sulfate (CS), in the extracellular matrix of cartilage. Here we describe the identification of a mutation (857T > C predicting the substitution L286P) in CHST3 in a Turkish family and extend the clinical phenotype of SED-Omani type to include congenital joint dislocation, club feet, ventricular septal defect, deafness, metacarpal shortening and accessory carpal ossification centers. Fibroblasts and urine obtained from affected patients demonstrated negligible levels of 6-O-sulfated GalNAc residue in CS. Furthermore, the 6-O-sulfotransferase activity of cloned C6ST-1 into which the L286P mutation had been introduced was dramatically reduced, confirming the pathogenicity of this substitution. These results indicate that the clinical consequences of a deficiency of 6-O-sulfation in CS can be varied and that a clinical spectrum may exist similar to that seen in other skeletal dysplasias characterized by disorders of proteoglycan sulfation.

Spondylometaphyseal dysplasia with dentinogenesis imperfecta

Spondylometaphyseal dysplasia with dentinogenesis imperfecta: A rare skeletal disorder involving abnormal bone development. The condition is characterized by abnormal growth of long bones, loose joints and tooth enamel abnormalities. The shortness in the arms and legs occurs mainly in the middle bones such as the forearm and lower leg bones.

Spondylometaphyseal dysplasia- ‘corner fracture’ type

Spondylometaphyseal dysplasia, 'corner fracture' type (medical condition): A rare inherited bone development disorder characterized by vertebra abnormalities, short stature and what appears to be fragments of bone at the ends of some long bones.

Spondylometaphyseal dysplasia- Algerian type

Spondylometaphyseal dysplasia, Algerian type: A severe, dominantly inherited skeletal disorder involving abnormal bone development. The condition is characterized by knock knees, curved spine, short stature and abnormal growth of long bones.

Spondylometaphyseal dysplasia- axial

Spondylometaphyseal dysplasia, axial: A rare skeletal disorder involving abnormal bone development. The condition is characterized by flattened vertebrae, small rib cage, abnormal ribs and other bone abnormalities.

Spondylometaphyseal dysplasia- east-African type

Spondylometaphyseal dysplasia, east-African type: A rare, early-onset skeletal disorder involving abnormal bone development. The spine is mildly affected and the hands are spared but the growing ends of long bones are deformed (bracket-shaped) which affects bone growth.

Spondylometaphyseal dysplasia- Sedaghatian type

Spondylometaphyseal dysplasia, Sedaghatian type: A very rare syndrome characterized by abnormal bone development with short arms and flattened vertebrae. Death usually occurs within days of birth.

Spondylometaphyseal dysplasia- X-linked

Spondylometaphyseal dysplasia, X-linked: A rare disorder characterized by spine and long bone abnormalities and facial anomalies. The disorder is inherited in a X-linked manner which means that males exhibit the full extent of the symptoms whereas female carriers often have only mild symptoms.

Spondyloperipheral dysplasia short ulna

Spondyloperipheral dysplasia - short ulna: A rare inherited disorder characterized by a short forearm bone (ulna) and other skeletal anomalies such as short hands and feet.

Spongiform encephalopathy

Spongiform encephalopathy: A rare inherited prion disease which has a range of manifestations resulting primarily from degeneration of the nervous system.

Spontaneous periodic hypothermia

Spontaneous periodic hypothermia: A rare disorder characterized by recurring periods of hypothermia that occur for no obvious reason.

Sporotrichosis

Sporotrichosis is a long-term (chronic) skin infection due to a certain fungus.

Spotted fever

A spotted fever is a type of tick-borne disease which presents on the skin.Rocky Mountain spotted fever is an infectious disease caused by bacteria carried by ticks.

Spranger Schinzel Myers syndrome

Spranger-Schinzel-Myers syndrome: A very rare syndrome characterized by brain malformation, underdeveloped fingers and bone abnormalities. It is believed to be possibly caused by exposure to ergotamine and diazoxide which may be teratogenic.

Sprengel deformity

Sprengel's deformity is a condition where the scapula (shoulder blade) on one or both sides are underdeveloped (hypoplastic) and abnormally high. It is due to failure of descent of the scapula during embryonic development from its position in the neck to its normal position in the posterior thorax.. It happens usually in girls, and may have a genetic basis in some instances.

Squamous cell carcinoma of head and neck

Cancers that are known collectively as head and neck cancers usually begin in the squamous cells that line the moist, mucosal surfaces inside the head and neck (for example, inside the mouth, the nose, and the throat). These squamous cell cancers are often referred to as squamous cell carcinomas of the head and neck. At least 75 % of head and neck cancers are caused by tobacco and alcohol use. Infection with cancer-causing types of human papillomavirus (HPV), especially HPV-16, is a risk factor for some types of head and neck cancers. The symptoms of head and neck cancers may include a lump or a sore that does not heal, a sore throat that does not go away, difficulty in swallowing, and a change or hoarseness in the voice. Treatment for head and neck cancer can include surgery, radiation therapy, chemotherapy, targeted therapy, or a combination of treatments.

Squamous Cell Carcinoma of the Anal Canal

Squamous Cell Carcinoma (SCC) of the anal canal is a rare, increasing malignancy (2–4% of gastrointestinal cancers) often linked to HPV and HIV, predominantly affecting the squamous epithelium. Common symptoms include anal bleeding, pain, and, in some cases, a palpable mass. Standard treatment involves sphincter-preserving combined chemoradiation (Nigro protocol) rather than upfront surgery. 

Squamous-cell carcinoma

Squamous-cell carcinoma is a cancer of a kind of epithelial cell, the squamous cell. These cells are the main part of the epidermis of the skin, and this cancer is one of the major forms of skin cancer. However, squamous cells also occur in the lining of the digestive tract, lungs, and other areas of the body, and SCC occurs as a form of cancer in diverse tissues, including the lips, mouth, esophagus, urinary bladder, prostate, lung, vagina, and cervix, among others. Despite sharing the name squamous-cell carcinoma, the SCCs of different body sites can show tremendous differences in their presenting symptoms, natural history, prognosis, and response to treatment.

SCC is a histologically distinct form of cancer. It arises from the uncontrolled multiplication of cells of epithelium, or cells showing particular cytological or tissue architectural characteristics of squamous-cell differentiation, such as the presence of keratin, tonofilament bundles, or desmosomes, structures involved in cell-to-cell adhesion.

SCC typically initially occurs in the sixth decade of life (the 50s), but is most common in the eighth decade (the 70s). It is twice as prevalent in men as in women. People with darker skin are less at risk to develop SCC. Populations with fair skin, light hair, and blue/green/grey eyes are at highest risk of developing the disease. Frequent exposure to direct, strong sunlight without adequate topical protection also increases risk.

 

 

St. Anthony’s fire

Rose, St. Anthony's Fire, or R0S or Erysipelas, is an inflammation and swelling of the skin, which disappear upon pressure, but suddenly return; being attended with an ardent fever, the principal symptoms of which 3re drowsiness, and sometimes delirium. It frequently attacks the face, though other parts are not exempt from its influence.This eruptive disorder is very apt to change its place on the human body. In its progress, the redness extends over the contiguous parts, and usually vanishes from those previously affected. The inflammation, however, does not produce any remission of the fever, which, in some instances, even increases during the progressive eruption ; and, in general, continues for eight or ten days. When the inflammatory symptoms have prevailed for some time, vesicles of various sizes, containing a thin yellowish liquor, are usually observed to arise on different parts. Though the surface of the skin, thus blistered, sometimes assumes a livid hue, this circumstance is by no means alarming. On the contrary, the sound surface of the skin, scales off towards the end of the disease. If no delirium, or other affection of the brain intervene, the event is generally favourable ; but persons, who have once been attacked with the Rose, are liable to frequent returns, especially in the spring and autumn.

Stachybotrys chartarum

Stachybotrys chartarum: A toxic black slimy mold that can be found in damp indoor environments. Exposure can occur through the skin, ingestion or inhalation. It can causes conditions such as "sick building syndrome".

Stalker chitayat syndrome

Stalker-Chitayat syndrome: A very rare syndrome characterized mainly by abnormal rotation of the intestines and an unusual facial appearance.