Xeroderma pigmentosum: More than just skin deep

Nicola Miller

Co-founder and Trustee, Teddington Trust

Dr Richard Barlow

Chair of Trustees, Teddington Trust

We often see skin disorders as simply that—a disorder impacting the skin. But the truth is they can have a much wider impact on health and wellbeing than first meets the eye. This is true for the ultra-rare disease, xeroderma pigmentosum.

The exquisite design of our skin goes well beyond protecting us from the outside world. Not surprising then, when our skin function is interrupted, it exerts a heavy psychological and emotional toll.

Most of us don’t give our skin the credit due, myself included—that is until my son was diagnosed with the rare skin condition, xeroderma pigmentosum (XP). Suddenly, I became acutely aware of the daily implications of disrupted skin and how it is easy to take it for granted.

Xeroderma pigmentosum is an ultra-rare multisystem condition affecting less than 120 people in the UK. Little is known about XP amongst healthcare professionals, hence, the journey to diagnosis for individuals and their families can be long and arduous.

What is XP?

XP is characterised by an extreme sensitivity to ultra-violet radiation (UVR). UVR is a specific wavelength of non-visible light present during daylight hours and can be emitted from many types of artificial lighting.

Individuals with XP cannot repair damage induced by UVR, rendering them 10,000 times more likely to develop skin cancer compared with the general population.

Treatments

While XP remains one of the 95% of rare conditions without curative treatment, innovative developments have vastly improved outcomes for those individuals with the condition.

Individuals with XP cannot repair damage induced by UVR, rendering them 10,000 times more likely to develop skin cancer compared with the general population.

Protection from harmful UVR is the cornerstone of management. Complete avoidance is ideal but very difficult to achieve therefore shielding strategies with home-made protective face visors, sunglasses, specialised clothing, gloves and high factor sunscreen are essential in daylight or near harmful artificial lighting.

What lies beneath…

XP, like many other disorders, is much more than a skin-deep condition. Individuals have a 30% risk of developing unpreventable neurological impairments. This may manifest as problems with fine and gross-motor functions, speech, swallowing and or breathing—potentially leading to premature death. The ever-present threat of neurological involvement is often a cause for great anxiety for both individuals and their families.

Supporting families

Charites such as Teddington Trust are critically important to this community both within the UK and internationally—providing emotional support as well as a plethora of free resources.

I for one, now have a deep admiration for our skin with an increased understanding of the intimate links between our skin and our health, wellbeing and self-identity, which I take for granted no more.