Xeroderma Pigmentosum- Symptoms, Causes, Diagnosis

Xeroderma pigmentosum (XP) is a rare genetic disease with eight known subtypes. People with XP experience extreme sensitivity to UV light (photosensitivity). This sensitivity makes it impossible to be out in the sun. Some people with XP also experience certain neurological conditions like intellectual disabilities, developmental delays, or hearing loss. Eye problems are also common.

Symptoms

XP symptoms typically start to show during infancy or within the first three years of life. Some people with the disease begin showing symptoms in late childhood or early adulthood.

Skin

Babies and toddlers with the disease usually start to freckle on areas exposed to the sun. These areas include: face, neck, arms, legs.

Painful, blistering sunburns can also occur. This happens regardless of how much time is spent in the sun. In some cases, children start to sunburn immediately upon exposure to the sun. These sunburns may result in redness and blistering that can last for weeks.

Extreme changes in pigmentation are common. This can result in patches of skin becoming much darker (hyperpigmentation). Or the skin can lose its natural color and become pale pink or white (hypopigmentation).

Other symptoms may also start to appear during childhood. These include:

• spider veins (telangiectasia)
• scarring
• weakened, thin skin

Vision and hearing

People with XP often experience symptoms affecting the eyes. These include:

• extreme sensitivity to light (photophobia)
• eyelids that turn abnormally inward (entropion) or outward (ectropion)
• cloudiness of the eye lens
• inflammation of the corneas, eyelid lining, and the white part of the eye (sclera)
• excessive tear production
• blindness caused by lesions close to the eye

Some people may also experience progressive hearing loss that may lead to complete hearing loss.

Neurological

Some types of XP, such as De Sanctis-Cacchione syndrome, are associated with dwarfism, mental deficiency, hypogonadism, and other neurological issues.

Neurological symptoms of De Sanctis-Cacchione syndrome and some XP subtypes can include:

• slow or no reflexes
• poor motor skills
• small head size (microcephaly)
• developmental delays
• muscle rigidity, spasticity, or weakness
• poor control of bodily movement (ataxia)

Causes

XP is an inherited disorder. Each subtype is caused by a mutation in a different gene. Every type of XP is marked by the gene’s inability to repair, or replicate, DNA that has been damaged by UV light.

Even though the genes affected vary from type to type, extreme sensitivity to sunlight is always clear. Painful sunburns, and later skin cancer if skin isn’t protected, always result.

Seven of the eight known types of XP are categorized as autosomal recessive conditions. This means that both parents of the person with XP were carriers of the mutated gene, but didn’t have the disease themselves.

One form, XP dominant type, is an autosomal dominant condition. In XP dominant type, only one parent had a defective gene. The parent may also have the disease, as opposed to being a carrier.

There are several other conditions characterized by extreme photosensitivity and the inability of specific genes to repair DNA damage to the body. If you have XP, you may also be diagnosed with one of these disorders:

• trichothiodystrophy
• Bloom syndrome
• Neill-Dingwall or Cockayne syndrome

How is xeroderma pigmentosum diagnosed?

If  XP is suspected, your doctor will use a variety of diagnostic tools to determine if you have it and what type you may have.

These tools include:

• assessment of your family history
• physical examination
• symptom analysis
• genetic testing

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