Credit: Sugandh Khandelwal
Patients battling rare and life-threatening skin disorders may soon find relief, as the national policy for rare diseases is on the verge of expansion. Currently, the policy addresses 63 conditions. Experts are evaluating the idea to include specific rare dermatological disorders in the national policy.
Presently, dermatological conditions are excluded from the policy, but a review is underway to incorporate three particular diseases: epidermolysisbullosa (EB), xerodermapigmentosa (XP), and ichthyosis. Experts at AIIMS are currently evaluating these disorders, while the Indian Council of Medical Research (ICMR) has expressed a renewed commitment to collaborating on this initiative. This development marks progress toward greater acknowledgment and support for affected patients.
As per reports Dr. Madhulika Kabra, a genetics professor at AIIMS Delhi and a member of the National Rare Diseases Committee (NRDC), confirmed that discussions to add these conditions to the national policy are ongoing. AIIMS data reveals that about 200 families are affected by EB, a condition that causes extremely fragile skin, leading to blistering and painful sores from minor contact.
This disorder, which can also impact internal areas such as the mouth and genitals, demands lifelong management, with treatment expenses averaging Rs 20,000 per month. Similarly, XP, another condition under review, is characterized by extreme sensitivity to sunlight, changes in skin pigmentation, and a heightened risk of developing skin and eye cancers early in life.
According to Dr. Kaushal Verma, head of dermatology at AIIMS, early tumor screening can significantly enhance patient outcomes. XP often causes cancer to develop much earlier than usual, with some patients experiencing malignancies as early as age 8. Protective measures, including sun protection and preventive care, have been shown to reduce cancer risks by up to 60%.
Ichthyosis, another genetic disorder under consideration, leads to dry, scaly skin and is sometimes linked with rickets. According to AIIMS data, ichthyosis appears to be more prevalent than both EB and XP.
If these proposed changes are implemented, these conditions will be officially recognized under the national policy, granting patients access to vital resources and support. This expansion would mark a significant step forward for individuals and families grappling with these debilitating and uncommon skin disorders.
