New Delhi: Finally, there is some hope for patients suffering from rare and life-threatening skin disorders, as the existing national policy for rare diseases, which currently covers 63 conditions, is expected to be expanded to include certain uncommon dermatological conditions.
At present, the policy does not include any dermatological conditions.
Medical specialists at AIIMS are assessing three specific rare skin conditions for inclusion: epidermolysis bullosa (EB), xeroderma pigmentosa (XP) and ichthyosis. ICMR has shown renewed attention to this initiative, with a collaborative consultation in the pipeline.
Dr Madhulika Kabra, professor in the division of genetics, department of paediatrics, AIIMS Delhi, and a member of the National Rare Diseases Committee (NRDC), confirmed the proposal to include these conditions in the policy.
AIIMS records indicate 200 families affected by epidermolysis bullosa, a condition characterised by extremely fragile skin prone to blistering. Patients experience skin tears, sores and blisters from minimal contact. These symptoms can affect any body part. Severe cases involve internal blistering affecting the mouth, oesophagus, upper airways and genitals.
The institution’s medical team has studied the condition since 2010. The disorder typically manifests at birth or in early infancy, with varying severity levels. Treatment costs about Rs 20,000 monthly and requires long-term, consistent care.
Xeroderma pigmentosa is another significant condition that presents with severe photosensitivity, skin pigmentation changes, malignant tumour development and, sometimes, progressive neurological decline.
Dr Kaushal Verma, heads of the dermatology department, explained that XP patients have improved outcomes through preventive measures that can delay its progression. Regular screening for tumours enables surgical removal when detected. These cases predominantly manifest with skin tumours.
Dr Neetu Bhari, additional professor in dermatology, AIIMS, said that while cancer typically develops at age 60-70 in the general population, XP patients face it at age 7-8, with a 10,000-fold increased risk of skin and eye cancer. Sun protection is crucial, necessitating early awareness. Preventive therapy can reduce malignancy risk by 60per cent, but requires continuous treatment.
About 50-60per cent of affected children develop skin tumours by age 12, with symptoms beginning at age two, she said. Global statistics indicate 32per cent of patients do not survive beyond age 30, though early detection and treatment can enhance survival rates.
Ichthyosis encompasses skin conditions causing dry, scaly skin with a frequent association with rickets. The AIIMS database suggests that it is more prevalent than both EB and XP.
