Rare diseases clinics

A purpose-built unit for adults and children with rare diseases.

Genetics

The genetic skin disease service runs clinics for adults and children with a range of inherited skin diseases including ichthyosis, palmoplantar keratoderma, ectodermal dysplasia, darier disease and mosaic disorders of the skin.  It provides comprehensive clinical assessment as well as access to genetic testing where available.  In addition, it hosts a bi-monthly clinic in conjunction with a clinical geneticist for more complex, multisystem genetic skin diseases.

For further information see our genetics service, diagnosing and assessing the risk of inheriting a genetic condition.

Bardet-Biedl Syndrome (BBS)

Bardet-Biedl Syndrome (BBS) is a rare genetic disorder with highly variable symptoms that affects many different systems of the body.  There are a number of different types of BBS caused by spelling mistakes in a variety of genes.  Therefore, BBS can be highly variable and cause a number of different conditions including retinal degeneration (leading to impaired vision and blindness), obesity, reduced kidney function, polydactyly (extra digits of the hands or feet) and learning difficulties.   

For further information we provide an Bardet-Biedl Syndrome (BBS) service from the Rare Diseases Centre at  St Thomas’ Hospital.

Epidermolysis bullosa (EB)

Epidermolysis bullosa (EB) is a rare inherited skin disorder which causes the skin of affected people to be excessively fragile and blister at the slightest knock or rub. There are a number of different types of EB. Some types can cause hands and feet to blister, whilst others can affect larger areas of the skin, significant scarring and internal complications. 

For further information we provide an Adult epidermolysis bullosa (EB) service from the Rare Diseases Centre St Thomas’ Hospital.

Xeroderma pigmentosum (XP)

Xeroderma pigmentosum (XP) is a rare, hereditary skin disorder affecting 1 in 250,000 people.  People with xeroderma pigmentosum are not able to repair the damage caused to their skin by the ultraviolet (UV) part of daylight. They can burn easily or develop abnormal freckles on skin that is exposed to UV. They can also develop eye, nerve or brain problems, and are more likely to develop skin cancers, especially if they do not protect their skin from the harmful effects of UV.

For further information we provide an Xeroderma pigmentosum (XP) service from the Rare Diseases Centre at St Thomas’ Hospital.