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Incidence

Rothmund-Thomson Syndrome is inherited as an autosomal recessive genetic trait. Approximately 300 cases have been reported in the scientific literature. Whether Rothmund-Thomson syndrome has a predilection for one sex over the other is unclear.

Clinical Characteristics

Rothmund-Thomson syndrome (RTS) is a very rare genetic disorder that affects many different parts of the body. Key features include early photosensitivity and poikilodermatous skin changes, juvenile cataracts, skeletal dysplasias, and a predisposition to osteosarcoma and skin cancer. Children with this disorder have a small amount of hair and this can include the eyebrows and eyelashes. Affected children are usually short and can have bone abnormalities. RTS can also affect the eyes and may cause children to be sensitive to light. There is also an increased risk for cancer associated with RTS, especially cancer of the bone. Rothmund-Thomson Syndrome is an extremely rare inherited multisystem disorder that is usually apparent during early infancy. The disorder is typically characterized by distinctive abnormalities of the skin, defects of the hair, clouding of the lenses of the eyes (juvenile cataracts), short stature and other skeletal abnormalities, malformations of the head and facial (craniofacial) area, and other physical abnormalities. In rare cases, mental retardation may be present. The range and severity of symptoms may vary from case to case. During early infancy, individuals with Rothmund-Thomson Syndrome develop abnormally red, inflamed patches (plaques) on the skin (erythema) accompanied by abnormal accumulations of fluid between layers of tissue under the skin (edema). Such plaques typically first appear on the cheeks. In most cases, additional areas of the skin may then become involved to a lesser degree (e.g., the skin of the ears, forehead, chin, hands, forearms, lower legs, etc.). Inflammation eventually tends to recede and the skin of affected areas develops a condition known as poikiloderma, characterized by abnormal widening (dilation) of groups of small blood vessels (telangiectasia); skin tissue degeneration (atrophy); and patchy areas of abnormally decreased and/or unusually increased pigmentation (depigmentation and hyperpigmentation). In many cases, additional skin abnormalities may also occur. Many infants and children with Rothmund-Thomson Syndrome also have additional physical abnormalities including hair that is gray and abnormally sparse; the development of abnormal clouding of the lenses of the eyes (juvenile cataracts); growth delays leading to mild to severe short stature (dwarfism); and/or additional skeletal abnormalities such as unusually small, short hands and feet, underdeveloped (hypoplastic) or absent thumbs, and/or underdeveloped (hypoplastic) or missing forearm bones (ulna and radii). Affected infants and children may also have characteristic abnormalities of the craniofacial area including a prominent forehead (frontal bossing), a sunken nasal bridge (saddle nose), a protruding lower jaw (prognathism), and/or dental abnormalities. In some cases, affected individuals may have additional physical abnormalities including deficient activity of the ovaries in females or testes in males (hypogonadism), resulting in irregular menstruation in affected females and delayed sexual development in affected males and females. Rothmund-Thomson Syndrome is inherited as an autosomal recessive genetic trait.

Precipitants

None

Provocation Tests

None

Diagnostic Procedures

RTS is diagnosed on finding the above described signs and symptoms during physical examination. genetic tests may also be done to identify changes in the gene causing RTS. A sample of the skin may be taken and examined (skin biopsy) to look for specific skin changes. The child can also have X-rays done to see how the bones are affected. A full physical examination can help identify malformations in the head, teeth, arms, and legs.