What are the symptoms? The main features of PXE include: slightly thickened, cobblestone-like patches of skin. They usually appear during childhood or adolescence, first on the sides of the neck and later in other flexural areas (underarms, folds of arms, groins, behind the knees)visual impairment in over 50 per cent of people with PXE, caused by angioid streaks (tiny breaks in the elastin-filled tissue), bleeding and scarring of the retina. This can lead to significant loss of vision especially in the centre of the field of vision. Other problems that occur in some people with PXE include: possible heart attacks or stroke resulting from abnormal elastin in blood vessels within heart muscle or brainleg pain as blood cannot easily reach the musclesbleeding in the stomach and digestive tract (gastrointestinal tract) in some people. What are the causes? PXE is caused by mutations (changes in DNA) of the ABCC6 gene on chromosome 16. Faulty ABCC6 allows toxic substances into cells, damaging elastin. Some people with thalassaemia (an inherited blood disorder) have skin and eye changes similar to those seen in PXE. This is probably because, in thalassaemia, excessive iron damages elastin, with similar consequences to PXE. How is it diagnosed? Diagnosis of PXE is considered when the skin and eye features of the condition are found in an individual. The severity of the condition is very variable, even between members of the same family. A skin biopsy (examination of a small piece of tissue) may help to confirm the diagnosis. Testing of the ABCC6 gene to confirm the diagnosis is available but the results need careful interpretation. Some people with PXE do not have mutations in ABCC6, and some mutations in ABCC6 cause a different condition. How is it treated? PXE cannot yet be cured, but there is promising research into drugs which might restore the function of mutant ABCC6 in some cases. The main problem with PXE is fragility of the tissues, particularly blood vessels. Skin camouflage may be used to lessen the visual effects of skin changes and plastic surgery may help. Regular eye examinations can detect early visual impairment that might be helped by magnifying aids, laser treatment or new medicines. Cardiovascular checks can reduce the risks of heart disease and stroke. Particular care is needed during pregnancy and labour. However, the mainstay of treatment involves lifestyle choices, avoiding things that can make symptoms worse, for example: contact sportsraised blood pressuresmoking, excessive weight gain and drugs that increase risk of heart disease and strokemedications that can damage the lining of the gut such as aspirin. Inheritance patterns and prenatal diagnosis Inheritance patternsInheritance is usually autosomal recessive, but sometimes “carriers” show signs of the condition so it can also behave as an autosomal dominant condition (only one copy of the mutated gene needed to manifest the disorder). Genetic counselling should be sought in families with an already affected member. Prenatal diagnosisPrenatal diagnosis may be available for families in whom a PXE gene mutation has already been identified in an affected family member. Is there support? The PseudoXanthoma Elasticum Support Group – PiXiE Tel: 01628 476 687Email: elspeth@pxe.org.ukWebsite: pxe.org.uk PiXiE is a Registered Charity in England and Wales No. 1055465. It offers help and encouragement to people with PXE and raises awareness of the condition amongst the medical community and general public. It has information about the condition, publishes a newsletter and holds meetings for members. Group details last updated January 2018.
What are the symptoms? The main features of PXE include: slightly thickened, cobblestone-like patches of skin. They usually appear during childhood or adolescence, first on the sides of the neck and later in other flexural areas (underarms, folds of arms, groins, behind the knees)visual impairment in over 50 per cent of people with PXE, caused by angioid streaks (tiny breaks in the elastin-filled tissue), bleeding and scarring of the retina. This can lead to significant loss of vision especially in the centre of the field of vision. Other problems that occur in some people with PXE include: possible heart attacks or stroke resulting from abnormal elastin in blood vessels within heart muscle or brainleg pain as blood cannot easily reach the musclesbleeding in the stomach and digestive tract (gastrointestinal tract) in some people.
What are the causes? PXE is caused by mutations (changes in DNA) of the ABCC6 gene on chromosome 16. Faulty ABCC6 allows toxic substances into cells, damaging elastin. Some people with thalassaemia (an inherited blood disorder) have skin and eye changes similar to those seen in PXE. This is probably because, in thalassaemia, excessive iron damages elastin, with similar consequences to PXE.
How is it diagnosed? Diagnosis of PXE is considered when the skin and eye features of the condition are found in an individual. The severity of the condition is very variable, even between members of the same family. A skin biopsy (examination of a small piece of tissue) may help to confirm the diagnosis. Testing of the ABCC6 gene to confirm the diagnosis is available but the results need careful interpretation. Some people with PXE do not have mutations in ABCC6, and some mutations in ABCC6 cause a different condition.
How is it treated? PXE cannot yet be cured, but there is promising research into drugs which might restore the function of mutant ABCC6 in some cases. The main problem with PXE is fragility of the tissues, particularly blood vessels. Skin camouflage may be used to lessen the visual effects of skin changes and plastic surgery may help. Regular eye examinations can detect early visual impairment that might be helped by magnifying aids, laser treatment or new medicines. Cardiovascular checks can reduce the risks of heart disease and stroke. Particular care is needed during pregnancy and labour. However, the mainstay of treatment involves lifestyle choices, avoiding things that can make symptoms worse, for example: contact sportsraised blood pressuresmoking, excessive weight gain and drugs that increase risk of heart disease and strokemedications that can damage the lining of the gut such as aspirin.
Inheritance patterns and prenatal diagnosis Inheritance patternsInheritance is usually autosomal recessive, but sometimes “carriers” show signs of the condition so it can also behave as an autosomal dominant condition (only one copy of the mutated gene needed to manifest the disorder). Genetic counselling should be sought in families with an already affected member. Prenatal diagnosisPrenatal diagnosis may be available for families in whom a PXE gene mutation has already been identified in an affected family member.
Is there support? The PseudoXanthoma Elasticum Support Group – PiXiE Tel: 01628 476 687Email: elspeth@pxe.org.ukWebsite: pxe.org.uk PiXiE is a Registered Charity in England and Wales No. 1055465. It offers help and encouragement to people with PXE and raises awareness of the condition amongst the medical community and general public. It has information about the condition, publishes a newsletter and holds meetings for members. Group details last updated January 2018.