Xeroderma Pigmentosum #A2ZChallenge

So they spend all of their time indoors, behind special windows, sleeping during the day, and staying up all night. But this does not change who they are.

Writing for X was not that easy. Firstly, I am down with fever and secondly, all the travelling has literally sapped out my energy. But this ain’t no excuse, right! So yes, here it goes, my post for the letter X, where I am going to discuss a rare genetic disorder found in children.

Xeroderma pigmentosum is a genetic condition often passed down in families. In this condition, the skin and tissues covering the eyes and the surrounding areas are sensitive to the ultraviolet light.

It is an autosomal recessive disorder. Thus, there must be two copies of the abnormal gene so that the disease can develop. In a normal person when the skin cells are damaged by the ultraviolet light, they heal with the body’s repair mechanism. However, in people with xeroderma pigmentosum, the body is unable to fix this damage. Thereby, it results in a patchy and thin skin. Xeroderma is also believed to cause spidery blood vessels and skin cancer. Though skin cancer occurs before the child is 5-years-old.

Source: YouTube

 How to Recognise Xeroderma Pigmentosum:

  • Sunburn that is difficult to treat and does not heal
  • Blisters happen even on the slight exposure to the sun
  • Spidery blood vessels under the skin
  • Splotchy and discoloured skin
  • Scaling and crusting of the skin
  • Open and oozing surfaces
  • Discomfort in bright lights and strong sun
  • Skin cancer

How to Detect Xeroderma Pigmentosum:

Usually, the family history is sought after and a physical examination is done. An eye check-up is done for clouding of the cornea, keratitis and lid tumours. Tests like amniocentesis, a culture of amniotic cells and sampling of the villus help to diagnose the condition in the babies before birth.

To diagnose the condition after the birth of a child a skin biopsy and culture of the skin fibroblasts is done.

Treating Xeroderma Pigmentosum:

Children who are diagnosed with this condition need protection from sunlight. Even the lights from the bulbs and windows can be hazardous. Care should be taken that these children should step out of the house with protective gear and clothes. A high protection sunscreen (SPF 70 or more) and dark UV glasses are very helpful.

Source: Medindia

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Shubhra Rastogi Written by:

Well, about me I can say that I am a certified dentist, healthcare analyst, medical writer and above all a mother of a 6-year-old. Most of my day to day activities revolve around her and she is my inspiration to start this blog. As a mother, I experimented with a lot of new things for my little one in a quest to find the best for her. I just want to share my experiences of being a happy and content mum.

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