Rothmund-Thomson Syndrome
What is Rothmund-Thomson syndrome (RTS)?
RTS is an hereditary disease characterized by progressive
degeneration (atrophy), scarring and abnormal pigmentation of the
skin together with stunting of growth, baldness, cataracts, depressed
nasal bridge, and malformations of the teeth, nails, and bone.
Alternative titles for RTS include poikiloderma congenita and
poikiloderma atrophicans with cataract.
What are the problems in RTS?
The features of RTS include:
- Skin: In early infancy, red patches appear on the skin with
abnormal accumulations of fluid (edema) between the layers of tissue
under the skin. Subsequently, poikiloderma appears. Poikiloderma is
a condition characterized by the abnormal widening (dilation) of
groups of small blood vessels (telangiectasia) in the skin, withering
(atrophy) of the skin, and patchy areas with either loss of pigment
(depigmentation) from the skin or an abnormal gain of pigment
(hyperpigmentation).
- Growth: Diminution of growth affecting all parts of the body equally (proportionate short stature).
- Hair: Baldness and abnormal hair growth.
- Eyes: Early (juvenile) onset of cataracts.
- Nose: Abnormally low bridge of the nose ("saddle nose").
- Teeth and jaw: Teeth tend to be underdeveloped (hypodontia) and jaw protruding (prognathism).
- Skeletal system: Bone defects from birth and contractures of soft tissue involving the limbs. The bone defects may include abnormally small hands and feet, and underdevelopment (hypoplasia) or absence of the thumbs or bones (the radius and ulna) in the forearm.
- Gonads: Underactivity of the ovaries in females or testes in males (hypogonadism) resulting in irregular menstruation (in the females) and delayed sexual development (in males and females).
- Blood: Tendency to anemia.
- Cancer: Increased risk of bone cancer (osteogenic sarcoma).
What is the outlook in RTS?
The prognosis for survival, barring such complications such as
bone cancer, is fairly good.
How is RTS inherited?
Rothmund-Thomson syndrome is inherited genetically as an autosomal
recessive trait. This means that both parents have one RTS gene but
do not have the disease. Each of the parents passed one RTS gene on to their affected child with RTS. Each of the children of these parents has a 25% chance
of not having the RTS gene, a 50% chance of having one RTS gene (and,
like the parents, being normal) and a 25% risk of having both RTS
genes and the disease. The RTS gene has been mapped (charted) and is
on chromosome 8.
History of RTS.
Rothmund was a German ophthalmologist (August von Rothmund, 1830-
1906) who in 1868 reported having seen a familial disorder with
cataracts, saddle nose, and skin atrophy in an isolated inbred Alpine
village. Thomson was a British dermatologist (Matthew S. Thomson,
1894-1960) who in 1923 and 1936 described "A hitherto undescribed
familial disease" and termed it "poikiloderma congenita." Today, it
is generally thought that Thomson's finding was the same disease that
was seen in the Alps long before by Rothmund.
- Rothmund-Thomson syndrome (RTS) is a genetic disease which features wasting skin (atrophic dermatosis) and other abnormalities affecting the hair, eyes, nose, teeth, jaw, bones, joints, ovaries, and testes.
- RTS causes short stature a tendency to anemia and bone cancer.
- The RTS gene (on chromosome 8) contains information relating to the skin, many other systems of the body, and cancer.
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Last Editorial Review: 5/9/2002
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