xeroderma pigmentosum is one of the most rare skin disorders characterized by severe ultraviolet (UV) light photosensitivity

it is due to gene disorders that lead to make skin have so sensitivity to ultraviolet and this can be dangerous skin disease affect children

xeroderma pigmentosum causes:

mutations in nucleotide excision repair complementation groups and they are 7 from xp-A to xp-G and failed in Dna repair after sun dammage of skin

xeroderma pigmentosum complications:

1- increase in frequency of squamous cell carcinoma

2- increase in frequency of basal cell carcinoma

3- increase in frequency of melanoma

4- skin cancer can develop in first decade of life specially on face, head and neck

5-  eye problems like corneal opacities and may lead to blindness

6- may be develop oral and tongue cancer ( tip of the tongue)

7- neurological problems

diagnosis of xeroderma pigmentosum tests:

by history and clinical molecular tests for xp-a and xp-c

who can get xeroderma pigmentosum:

it is rare and ratio between 1:1000000 and can happen in all countries like usa, japan , north africa and middle east and can develop cancer before age 10 and most common problems with eyes and sun exposure and can affects males and females

xeroderma pigmentosum symptoms:

xeroderma pigmentosum go through 3 stages of clinical features

first stage: where patient between age 1 and 2 years and develop hypersensitivity to sun exposure with appearence of freckles on sun exposed area and erythema like pigmented area and scales on the skin

second stage: comes with skin problems called poikiloderma which is cosist of skin atrophy , talengiectasis with hyper and hypopigmentation on sun exposed area

third stage: increased the risk of skin malignancies before age 20 like we mention before and this can be 1000 folds than any skin problems

eye problems:

it is very common in patients with xeroderma pigmentosum and can be

1- photophobia

2- corneal opacities

3- blindness

4- ectropion

5- conjunctivitis

6- inflammatory masses

7- may be lead to complete destruction of the lids

8- Impaired vision

neurological problems:

xeroderma pigmentosum develop in some of patients neurological disoreders like

1- diminished or absent deep tendon reflexes

2- high-frequency hearing loss

3- Intellectual impairment and loss of motor control can happen

xeroderm pigmentosum treatment:

till now no specific treatment for cure xeroderma pigmentosum but the early diagnosis is so important to avoid developing skin cancers, the main treatment in this skin problem is to educate patient and give maximum sun protection specially in sun exposure areas

1- surgical removal of skin cancers and excision of skin tumors

2- oral retinoid can be used to avoid or reduce developing skin cancers

3- eye follow up is very important

4- skin grafting may be used for face area

5- Topical 5 flourouracil

sun protection tips for xeroderma pigmentosum:

1- wearing protective clothing

2- wearing protective hats for head

3- UV-absorbing sunglasses with side shields

4- using topical sun-blocking agents with spf-30  or more and put it on sun exposure area every 2 hours

5- UV-absorbing films and filters can be placed over windows

6- visiting your dermatologist to remove any skin cancers

7- Normal vitamin D levels can be maintained by oral vitamin D supplements as it is important

8-   Normal iron levels can be maintained by oral iron supplements as it is important

9- good diet is important for healthy skin


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