Clinico-epidemiological Profile of Epidermolysis Bullosa: A Record-based Appraisal from Northern India
Vibhu Mendiratta, Amit Kumar MeenaAbstract
Introduction:
Epidermolysis bullosa (EB) is a genetic disorder, characterized by blistering in the skin and mucosal membranes following minor trauma. The objective was to determine the clinico-epidemiological profile of EB patients with emphasis on types of EB, associated nutritional deficiencies, and other complications.
Materials and Methods:
This retrospective and record-based study included all pediatric EB patients who presented to the dermatology outpatient department at a tertiary care hospital in Northern India from January 2022 to December 2024. As per the predesigned clinical pro forma, a detailed evaluation was done including history, clinical characteristics of EB, and results of investigations including complete blood count, serum Vitamin D, and Vitamin B12. For definitive diagnosis of EB subtype, all patients were subjected to antigen mapping.
Results:
Records of 18 children were analyzed, of which 11 (61.11%) were male and 7 (38.88%) were female. The most common subtype was EB simplex. Family history of EB was present in 22.22% patients. Nails and teeth were involved in 9 (50%) and 5 (27.77%) patients, respectively. Malnutrition was detected in 8 (44.44%) patients. Hematological tests revealed anemia in 14 (77.77%) patients. Total protein and albumin were low in 9 (50%) and 7 (38.88%) patients, respectively. Serum Vitamin B12 and Vitamin D were deficient in 12 (66.6%) and 14 (77.77%) patients, respectively.
Conclusions:
Patients of EB have multiple deficiencies such as Vitamin D, Vitamin B12, total protein, and albumin. Anemia and malnutrition were also common in these patients. This study also highlighted the need for multidisciplinary approach in the management of EB.