Ayurvedic management of Autosomal Recessive Keratitis-Ichthyosis-Deafness (KIDAR) syndrome: A case report

Abstract: Autosomal Recessive Keratitis-Ichthyosis-Deafness (KIDAR) syndrome is a rare inherited disorder resulting from mutation in the AP1B1 gene, which encodes the AP-1A and AP-1B adaptor proteins that regulate membrane protein trafficking and stability. This case report details a seven-year-old boy with genetically confirmed KIDAR syndrome identified by clinical exome sequencing, who presented with generalized hyperpigmented, thick, scaly skin lesions with severe pruritus, and an offensive odor. Associated features included sensorineural hearing loss and musculoskeletal abnormalities, notably a windswept knee deformity and exaggerated lumbar lordosis. From an Ayurvedic perspective, the condition was ascertained as Sannipatika dosha dushti (~morbidities caused by aggravated three regulatory functional factors of body) with Vata-Pitta predominance due to Beejabhaga avayava dushti (~diseases occurring at the level of genes). A comprehensive Ayurvedic management involving both internal medications and external procedures was planned and administered. It comprised of Agni vardhana (~enhancement of digestive fire), Amapachana (~digestion of Ama ), Sroto shodhana (~cleansing of structural or functional channels), and Koshtha shodhana chikitsa (~clearing of bowels) along with Vata-Pitta pacifying medicines and concluded with Rasayana chikitsa (~rejuvenation therapy). Outcomes were evaluated at baseline and posttreatment using the 5D-Pruritus Scale, Subjective symptom grading, and the Children’s Dermatology Life Quality Index (CDLQI), with reassessment at one-month follow-up. After three months of Ayurvedic management, the 5D-Pruritus score decreased from 23 to 9, and CDLQI improved from 100% to 53.3%. These objective improvements correlated with marked clinical reduction in skin hyperpigmentation, thickening, and desquamation over the face, trunk, and extremities, with sustained benefit at follow-up. This case report suggests that a structured Ayurvedic therapy can achieve clinically meaningful improvement in pruritus, cutaneous manifestations, and dermatology-related quality of life in KIDAR syndrome. However, noncutaneous manifestations remained unchanged, indicating symptomatic benefit without disease modification.