What is Xeroderma Pigmentosum?
Xeroderma Pigmentosum is a very rare skin disorder where a person is highly sensitive to sunlight (photosensitive), has premature skin aging and is prone to developing skin cancers.
What causes Xeroderma Pigmentosum?
Xeroderma Pigmentosum is caused by a defect in one of the genes that is responsible for repairing cell damage caused by UV light. This defect leads to cancerous cells or cell death It is an autosomally recessive inherited disease.
Who is at risk for developing Xeroderma Pigmentosum?
Couples who are each carriers of the xeroderma pigmentosum trait are at greater risk of producing a child with xeroderma pigmentosum.
What are the signs and symptoms of Xeroderma Pigmentosum?
Some of the most common symptoms are:
- An unusually severe sunburn after a short amount of sun exposure. The sunburn usually occurs during a child’s first sun exposure.
- Development of many freckles at an early age.
- Irregular dark spots.
- Thin skin.
- Excessive dryness.
- Rough-surfaced growths (solar keratoses), and skin cancers.
- Eyes that are painfully sensitive to the sun and may easily become irritated, bloodshot, and clouded.
- Blistering on minimum sun exposure.
- Premature aging of skin
How is Xeroderma Pigmentosum diagnosed?
Usually Xeroderma Pigmentosum is detected between the ages of 1 and 2 years old. Blood and urine samples are taken to measure the DNA repair factor.
What are the treatment options for Xeroderma Pigmentosum?
Unfortunately, there is no cure for xeroderma pigmentosum. The main goal of treatment is to protect the patient from UV exposure and thus prevent the damaging effects it can have on the skin.
Can a person with Xeroderma Pigmentosum have children?
Yes. Most people with Xeroderma Pigmentosum have normal sexual development and functioning, and they are able to have children. The probability of a person with xeroderma pigmentosum having a child with xeroderma pigmentosum is very small.
What is the prognosis?
Many patients with Xeroderma Pigmentosum die at an early age from skin cancers. However, if a person is diagnosed early, does not have severe neurological symptoms or has a mild variant, and takes all the precautionary measures to avoid exposure to UV light, they may survive beyond middle age.
What would be the estimated cost of treatment for Xeroderma pigmentosum?
The treatment cost depends on the type of treatment followed.
In general, a single consultation with Dr. Rinky Kapoor would cost you about INR 1000/-.
For more information on Dr. Rinky Kapoor’s work, click on:
About Dr. Rinky Kapoor
Dr. Rinky Kapoor, Co-founder of The Esthetic Clinic, is one of the best dermatologists in the world & currently practices in Mumbai, India. Dr. Rinky Kapoor is a Consultant Cosmetic Dermatologist, Cosmetologist & Trichologist at S L Raheja Fortis Hospital, Mumbai, India. Dr. Kapoor is trained at the National Skin Centre, Singapore & at Stanford University, USA. A celebrity skin doctor, Dr. Rinky Kapoor has won many honors such as “Best Dermatologist Mumbai”, “Top 10 Cosmetologist India”, etc for her evidence based expert dermatology care, affordable & reliable skin care, hair care & nail care …Read more
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