Condition AZ: p

The symptoms of psoriasis vary considerably depending on severity and the site involved. Scalp psoriasis can be itchy and flaky and sometimes sore. Psoriasis affecting skin folds such as the armpits, groin, and under the breasts is smooth, shiny red and often uncomfortable, whereas psoriasis on sites such as the elbows and knees tends to be red, scaly and itchy. Psoriasis may affect the genitals and can be both uncomfortable and embarrassing. Many people with psoriasis find that the dry scales of psoriasis drop on clothes, furniture and floors and bed linen may become blood stained and greasy from creams.

What other conditions are linked with psoriasis?

Conditions such as arthritis (see entry Arthritis (Juvenile Idiopathic)), diabetes (see entry Diabetes Mellitus), high blood pressure, metabolic syndromes (see entry Inherited Metabolic diseases), cardiovascular disease, anxiety and depression are over represented in individuals with psoriasis.

Psoriasis is now thought to be caused by a combination of environmental and genetic factors. Factors which may trigger or cause a flare of psoriasis include infections (eg streptococcal throat infection), smoking, alcohol and prescription drugs (eg beta-blockers, anti-malarials and lithium). Psoriasis can also be induced at sites of injury, and psychological factors such as stress play an important role.

Psoriasis is now thought to be caused by a combination of environmental and genetic factors. Factors which may trigger or cause a flare of psoriasis include infections (eg streptococcal throat infection), smoking, alcohol and prescription drugs (eg beta-blockers, anti-malarials and lithium). Psoriasis can also be induced at sites of injury, and psychological factors such as stress play an important role.

Although there is no ‘cure’ there are now many effective treatments available for psoriasis. Treatments are adapted according to the severity of the condition and the lifestyle of the individual. Mild disease is treated with topical preparations (creams and ointments). These include tar, vitamin D analogues, vitamin A analogues, steroids and combination therapies. Potent steroids are best avoided as can cause rebounds of psoriasis even if initially effective. If the response to topical therapies is not adequate a dermatologist may prescribe a course of ultraviolet (UV) light therapy.

If UV therapy is not effective or too inconvenient systemic medications (tablets) may be prescribed. Most tablets used to treat psoriasis alter the immune in some way and require regular monitoring with blood tests. Biologic medications (administered via injection or infusion) are reserved for individuals who do not respond to, or who have side effects from conventional medications.

Inheritance patterns
A total of 30 percent of individuals with psoriasis will have a first-degree relative with psoriasis. If one parent has psoriasis their offspring have a 15 per cent chance of developing psoriasis, if both parents are affected, offspring have a 75 per cent chance of developing the condition. Several different genes have been linked to psoriasis, but the possibility of gene therapy is remote.

Prenatal diagnosis
No prenatal diagnosis is possible.

Psoriasis Association

Helpline: 08456 760 076
Email: [email protected]
Website: psoriasis-association.org.uk

The Association is a Registered Charity in England and Wales No. 257414. It provides information and support to anyone affected by psoriasis or psoriatic arthritis. The Association has a dedicated website for teenagers and young adults at psoteen.org.uk.

Group details last updated March 2016.

Pulmonary hypertension can persist after birth in the presence of a heart which is normal although this is unusual. More commonly, the high pressure is secondary to abnormalities or diseases of the heart or lungs. The child may have a congenital abnormality of the heart (see entry Heart Defects) in which too much blood goes to the lungs at a high pressure. Or the baby may have difficulties in breathing and be short of oxygen as a result of lung diseases. In any child with persistent pulmonary hypertension of the newborn, it is essential that an accurate diagnosis be made as rapidly as possible and appropriate treatment given. For babies in whom pulmonary hypertension persists, the UK Specialist Commissioning Advisory Group includes a pulmonary hypertension service; the paediatric service is based at Great Ormond Street Hospital, London.

Inheritance patterns
None.

Prenatal diagnosis
None.

Information and support in the UK for pulmonary hypertension of the newborn is provided by the Pulmonary Hypertension Association UK (see entry Idiopathic and Familial Pulmonary Arterial Hypertension).

The symptoms of arthritis are warmth, swelling and pain in the affected joints. The affected joints are commonly the knees and ankles but also include the small joints of the hands and feet, and the wrists.

Uveitis is inflammation within the eye. It occurs in about 20 per cent of children with psoriatic arthritis. Children with uveitis often have no symptoms at all but may still have damage to their vision. It is very important for children with psoriatic arthritis to have regular eye checks to screen for uveitis.

Recognised patterns of psoriatic arthritis in adults include spondylitis (arthritis of the spine) and enthesitis (inflammation of the tendons), but children with these patterns of disease are classified as having different types of JIA.

Though the cause is unknown, it is recognised that approximately half of children with psoriatic arthritis have a first-degree relative with psoriasis.

The diagnosis of psoriatic arthritis is made clinically and with the family history. The diagnostic criteria have changed over the years. The current International League of Associations for Rheumatology (ILAR) criteria are:

• arthritis and psoriasis, or
• arthritis and two or more of:
  • dactylitis (inflammation of fingers or toes)
  • nail pitting (presence of small depressions on the nail surface) or abnormal nails
  • family history of psoriasis in a first-degree relative.

Children are excluded from the diagnosis if they have positive blood tests for HLA B27 or for IgM rheumatoid factor. Blood tests may show signs of inflammation but this does not affect the diagnosis.

Non-steroidal anti-inflammatory drugs such as naproxen or ibuprofen are used to reduce pain and inflammation in affected joints. Methotrexate is a disease modifying anti-rheumatic drug, which will completely suppress disease activity in many children. If methotrexate does not work then new biological therapies are used to suppress disease activity.

Physiotherapy is important to recover muscle strength around affected joints. Occupational therapy is important if the hands or wrists are affected. Psychology support can be helpful in a variety of ways.

In a long-term follow-up study of children diagnosed using the old criteria for psoriatic arthritis, over half had grown out of their arthritis, and under half had persistent arthritis.

Inheritance patterns
Though the condition is slightly more frequent in people with certain genetic markers, there is no clear inheritance pattern. It is very unusual to have more than one child in a family with arthritis.

Prenatal diagnosis
Not applicable.

Psoriasis and Psoriatic Arthritis Alliance (PAPAA)

Tel: 01923 672 837
Email: [email protected]
Website: papaa.org

The Alliance is a Registered Charity in England and Wales No. 1118192. It provides information and support to anyone affected by psoriasis or psoriatic arthritis, including specific information for parents of children with these conditions.

Group details last reviewed August 2022.

Information and support in the UK for psoriatic arthritis in children is also provided by Juvenile Arthritis Research (JAR) (see entry Juvenile Idiopathic Arthritis).

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 brain
• leg pain as blood cannot easily reach the muscles
• bleeding in the stomach and digestive tract (gastrointestinal tract) in some people.

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.

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.

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 sports
• raised blood pressure
• smoking, excessive weight gain and drugs that increase risk of heart disease and stroke
• medications that can damage the lining of the gut such as aspirin.

Inheritance patterns
Inheritance 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 diagnosis
Prenatal diagnosis may be available for families in whom a PXE gene mutation has already been identified in an affected family member.

The PseudoXanthoma Elasticum Support Group – PiXiE

Tel: 01628 476 687
Email: [email protected]
Website: 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.

Prune belly syndrome is a serious and in some cases can be a life-threatening problem. As the name implies, prune belly syndrome is characterised by an abdomen with a wrinkly or ‘prune-like’ appearance. This is because, while in the womb, the developing baby’s tummy swells with fluid. The fluid disappears after birth, leading to a wrinkled abdomen that looks like a prune. The appearance is more noticeable due to the lack of abdominal muscles.

The range of urinary tract anomalies varies widely in prune belly syndrome from an inability to completely empty the bladder to a more serious enlargement of the kidneys, ureter and bladder. A child may experience frequent urinary tract infections.

In most affected males, the testes are small and reside in the abdomen (tummy). Sperm are also thought to be absent or do not form properly. Rarely, neoplasias (malignant changes) have been reported in the testes, meaning that there is the potential for them to become cancerous.

Complications associated with prune belly syndrome may include pulmonary hypoplasia (underdevelopment of the lungs), heart anomalies, gastrointestinal abnormalities and musculoskeletal (bone/muscle) abnormalities.

The condition can be diagnosed prenatally. Ultrasound scans and X-rays may identify the type of urinary tract abnormalities present after birth.

Early surgery may be required to fix the weak abdominal muscles, the urinary tract problems, and to bring down the undescended testicles.

The baby may be given antibiotics to treat or help prevent urinary tract infections.

Inheritance patterns
The exact cause of prune belly syndrome remains unknown.

Prenatal diagnosis
Prune belly syndrome may be diagnosed by ultrasound examination from abnormal development of the bladder and urinary tract. Mothers carrying an unborn baby with prune belly syndrome may develop varying degrees of oligohydramnios (insufficient amniotic fluid) increasing the likelihood of lung problems after birth.

There is no support group for prune belly syndrome in the UK.

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.

The clinical features of Proteus syndrome are overgrowth/enlargement of soft tissue and bone, which can affect any area of the body but often involving the hands and/or the feet, the skull and sometimes the whole of one side of the body (hemihypertrophy) and vascular (blood vessel) abnormalities. Epidermal naevi (superficial warty birthmarks), soft deeper (subcutaneous) lumps, thickening of the skin on the soles and bony problems, in particular, of the skull, hands/feet and curvature of the spine may also be present. The abnormalities seen in Proteus syndrome are present at birth but may become more apparent and develop with age. The clinical features described may not all be present in any one affected individual and the severity can vary widely. The nature of the varied complications of the disorder depends on the site and severity of the problem.

The cause is genetic but the genetic defect that causes Proteus syndrome has not as yet been identified.

The diagnosis is essentially based on the presence of clinical features. As no genetic basis has been discovered no genetic tests can be undertaken.

Treatment is symptomatic meaning that it addresses the symptoms experienced by an individual with the condition rather than addressing the cause. Medical care requires a multidisciplinary approach covering orthopaedic, dermatological (skin-based problems), genetic, surgical, dental, ophthalmological, radiological (uses of imaging such as X-rays and scans) and psychological management.

Inheritance patterns
None.

Prenatal diagnosis
None.

Proteus Family Network (UK)

Tel: 01785 661 263
Email: [email protected]
Website: proteus-uk.org

The Network is a Registered Charity in England and Wales No. 1098608. It provides information and support to families affected by Proteus Syndrome, Klippel Trenaunay (KT) and hemihypertrophy. The Network has a Medical Advisory Board and supports research in the UK. It is in touch with over 60 families in the UK and abroad, the majority of whom are KT.

Group details last updated March 2016.

Proteus Syndrome Foundation (UK)

Tel: 01424 736 640
Email: [email protected]
Website: proteus-syndrome.org.uk

The Foundation is a Registered Charity in England and Wales No. 1077796. It provides information and support to families affected by Proteus Syndrome. The Foundation provides grants to families, and offers family weekends and access to a medical advisory panel and research project.

Group details last updated June 2021.

At least half the PCD patients have symptoms when first born. These include unexplained tachypnoea (unusually rapid breathing) or neonatal pneumonia, rhinorrhea (runny nose), dextrocardia (heart positioned too far to the right) or complete mirror image arrangement with structurally normal heart; other heterotaxy (body structures arranged unusually); complex congenital heart disease, oesophageal atresia or other severe defects of oesophageal function (see entry Tracheo-oesophageal Fistula and/or Oesophageal Atresia), biliary atresia (see Liver disease) hydrocephalus and positive family history.

In the infant and older child, symptoms include asthma that is atypical or not responsive to treatment, chronic particularly wet cough, sputum production in the older child who is able to expectorate, very severe gastro-oesophageal reflux; bronchiectasis; rhinosinusitis (inflammation of the nose and sinus) and chronic and severe secretory otitis media (ear infection).

In the adult, presentation is as in the older child, but also impaired female fertility including ectopic pregnancy and male infertility.

Diagnosis is first suspected by history and physical examination. Attention must be paid to the timing of onset of symptoms (particularly the onset at birth, which is highly suggestive of the diagnosis). Diagnostic tests are performed in three centrally funded units, at Leicester Royal Infirmary; Royal Brompton Hospital, London; and Southampton General Hospital. Testing includes measurement of the output of a gas called nitric oxide from the nose (very low in people with PCD), and examination of structure and function of cilia from a nasal brushing.

There is no cure for the condition. The aim is to prevent lung damage and bronchiectasis by chest physiotherapy, exercise and the aggressive use of antibiotic. Hearing problems usually improve by the teenage years, and tympoanostomy tubes should be avoided if possible.

Inheritance patterns
PCD is mainly inherited as an autosomal recessive, but with other inheritance patterns possible.

Prenatal diagnosis
In a few patients, the responsible genes have been identified, opening up the possibility of antenatal testing in selected couples.

PCD Family Support Group

Email: via website
Website: pcdsupport.org.uk

The Group is a Registered Charity in England and Wales No. 1049931. It provides information and support to people with Primary Ciliary Dyskinesia and their families and carers. 

Group details last updated February 2016.

Pre-eclampsia is an established reason for the medical team to decide that it would be safer for mother and baby if the delivery was early. Other factors that may contribute to premature births are early breaking of the waters, smoking by the mother, acute or prolonged stress in the mother, the mother having a poor diet, the mother abusing drugs and certain infections in the mother. Multiple births may deliver early. In some cases the cause of premature birth may not be known.

Providing breathing support and therapy to improve the function of the lungs is important initially, but breathing support may be needed for many weeks in the most immature babies. Jaundice is treated with special lights over the baby and nutritional and fluid needs may be provided by infusions into a vein and with tube feeds into the stomach. Drugs may be required to close a connection between two blood vessels close to the heart if they do not close spontaneously and babies are closely monitored for signs of any infection and for the development of anaemia, which may require blood transfusion to correct it. Keeping the baby warm and experiencing appropriate contact with parents is a vital part of care and the nurses will be encouraging contact from the earliest days.

Some babies, particularly if born very early or with severe infections may not be able to be helped to survive. Parents and other family members nowadays receive much professional support in these very sad situations.

Inheritance patterns
Inapplicable in most cases. Some inherited disorders contribute to the premature birth of a baby.

Prenatal diagnosis
The likelihood of a premature birth may occasionally be predicted earlier in the pregnancy if a known cause is identified in the mother. Generally, the cause of premature birth is often unclear.

Bliss

Helpline: 0500 618 140
Email: [email protected]
Website: bliss.org.uk

Bliss is a Registered Charity in England and Wales No.1002973. It supports parents and families of premature or sick babies, providing a range of support options and information.

Group details last updated October 2023.

Tommy’s

Pregnancy Information Line: 0800 0147 800
Email: [email protected]
Helpline: tommys.org

The Organisation is a Registered Charity in England and Wales No. 1060508. It provides information for parents-to-be on stillbirth, premature birth and miscarriage, and funds research into pregnancy problems. It took over the work of the Toxoplasmosis Trust and provides information on Toxoplasmosis infection in pregnancy. 

Group details last updated September 2014.

One symptom common to both boys and girls is a premature growth spurt in height. Other symptoms include:

In girls:

• breast development
• pubic hair
• armpit hair
• onset of periods
• ovary enlargement
• cysts on the ovaries.

In boys:

• facial hair
• armpit hair
• pubic hair
• penis growth
• increased masculinity
• testicle enlargement.

In both girls and boys, there can be body odour, acne and changes in behaviour.

Isolated premature thelarche is a condition of young girls which involves only breast development, usually resolving after a year or two and does not require treatment.

Premature adrenarche is a common condition between the ages of six and nine years of age with early activation of the adrenal glands involving pubic hair development, and increased rate of growth which only requires reassurance.

Girls are more likely to be affected than boys. In some cases the cause of premature sexual maturation is not know. Many of the conditions that cause premature sexual maturation involve the early secretion of sex hormones.

Some known causes of premature sexual development include:

• hormone-secreting tumour (gonadotropin-secreting tumour)
• severe hypothyroidism (underactive thyroid gland – see thyroid disorders for more information)
• congenital adrenal hyperplasia
• McCune-Albright syndrome (females)
• adrenal tumour
• tumour or lesion on the central nervous system or pituitary gland.

The doctor will ask about the child’s symptoms and medical history, and perform a physical examination. An assessment of puberty milestones and growth will be performed. An X-ray of the left wrist bone may be taken to assess if bone growth is normal for the child’s age. Referral to a specialist may be necessary and they may test levels of different hormones in the child and try to rule out any underlying conditions.

The treatment for premature sexual development depends upon the cause. For children whose bone age is about the same as their actual age, and in whom no cause can be found, there is no treatment other than continued monitoring and reassurance. Psychological support may be needed for some children to deal with maturing a lot faster than their peers.

Hormone suppressing medications work by halting or slowing sexual development. This treatment is often used in children whose bone age is older than their actual age. These medications not only stop sexual development and periods, they also halt the rapid bone growth that can result in the bones closing too soon.

Metformin, a drug that is usually used to treat diabetes, has also been shown to be effective in delaying puberty.

Inheritance patterns
This is dependent on the underlying diagnosis.

Prenatal diagnosis
None.

Information and support in the UK for premature sexual maturation is provided by the Child Growth Foundation (see entry Restricted Growth).

• Severe hypotonia at birth
• Feeding difficulties at first
• Hypogonadism (undescended testicles in males, reduced or lacking menstruation in females)
• Mild to moderate intellectual disabilities (see entry Learning Disability)
• Obesity (in the absence of food restrictions this appears to be universal).

The syndrome often includes:

• short stature
• developmental delay in walking and speech
• obsessive behaviour
• strabismus (squint)
• small hands and feet
• skin picking
• scoliosis (spinal curvature)
• diabetes (see entry Diabetes Mellitus)
• challenging behaviour
• psychiatric illnesses (usually starting in late adolescence and adulthood).

The two main genetic subtypes (deletion and maternal disomy; see ‘What are the causes’) differ in many respects, including: average maternal age at birth, ‘fair for family’ pigmentation, cognitive strengths and weaknesses, and risk of depressive (greater in deletion subtype) and psychotic (greater in maternal disomy subtype) illnesses.

The above characteristics, although typical of people with Prader-Willi syndrome in general, are not all universal and vary in severity.

Prader-Willi syndrome is very rarely inherited.  It occurs sporadically due to the loss of expression of maternally silenced genes on the chromosome 15 of paternal origin. Historically, approximately 70% of cases are due to a deletion, (missing segment), and in most other cases both copies of chromosome 15 are maternal in origin (maternal disomy) with no paternal copy. Genetic testing is undertaken using DNA and parental blood samples may be requested to confirm maternal disomy.

The condition is suspected if a baby has severe hypotonia, and if there is reduced foetal movement, breech presentation or other complications of pregnancy. Genetic testing is needed to confirm the diagnosis. Genetic testing is routine in known risk carriers.

There is no cure for PWS. Dietary management is the cornerstone of managing the associated obesity. Typically, carers have to limit access to food and take over total control of food intake. Behaviour modification methods which rely on reinforcement and self-monitoring as part of weight control and exercise programmes are also required, though long-term maintenance of weight loss is difficult to achieve. Behaviour management is key in controlling the outbursts of rage and aggression, stubbornness and belligerence, which are common in affected individuals, beginning around age three to five and becoming more marked later in childhood and persisting into adulthood. Growth hormone supplements are also used to increase final stature and improve body composition and activity levels.

Inheritance patterns

People with PWS are usually infertile. If a male with deletion PWS fathers a child, it will have a 50% chance of inheriting PWS (no cases documented). If a female with deletion PWS gives birth, the child will have a 50% chance of being born with Angelman syndrome (one case documented). If a male with maternal disomy or imprinting centre defect fathers a child it will be normal if the imprint resets, otherwise it will be disomy PWS. If a female with maternal disomy or imprinting centre defect gives birth, the child will be normal (one case documented). 

Prenatal diagnosis

Usually none at present. There may be reduced foetal movement. In the very rare known carrier families, amniocentesis may be recommended.

Prader-Willi Syndrome Association UK

Helpline: 01332 365 676
Email: [email protected]
Website: pwsa.co.uk

The Association is a Registered Charity in England and Wales No. 1155846. It provides information and support to anyone affected by Prader-Willi syndrome (PWS). The Association offers family days and weekends, regional events, peer to peer support and training. 

Group details last reviewed September 2019.