Rare Presentations of Genodermatoses and their Clinical Correlations: A Case Series from Tertiary Care Centre

Abstract

Genodermatoses are inherited skin disorders with variable clinical and systemic manifestations, usually present form birth or early childhood. Diagnosis relies on clinical evaluation, especially in resource-limited settings. This case series reports four rare presentations. Aims and Objectives: To analyses and report the clinical features of five unique cases of Genodermatoses, which include faun tail nevus, intermediate junctional epidermolysis bullosa, verrucous epidermal nevus with scoliosis, and segmental neurofibroma encountered in a tertiary care hospital. Methodology: This descriptive case series was conducted in the Department of Dermatology, Stanley Medical College and Hospital, Chennai, between January 2025 and August 2025. Four patients presenting with rare genodermatoses underwent detailed clinical evaluation, including family history, systemic examination, and appropriate investigations. Diagnosis was made mainly by clinical features and aided by other histopathological investigations. Results: CASE 1: A 16-year-old female with localized lumbosacral hypertrichosis diagnosed as a Faun tail nevus, a marker of occult spinal dysraphism. CASE 2: A 38-year-old female with unilateral palmar neurofibromas and axillary freckling consistent with segmental neurofibromatosis. CASE 3 and CASE 4: Two siblings (a 14-year-old male and his 9-year-old female sibling) with recurrent blistering, nail dystrophy, enamel hypoplasia, and scarring fulfilling diagnosis criteria for generalized intermediate junctional epidermolysis bullosa. CASE 5: A 15-year-old female with verrucous epidermal nevus, scoliosis, growth retardation, and delayed puberty, suggestive of epidermal nevus syndrome with possible hypogonadotropic hypogonadism. Conclusion: This case series underscores the wide spectrum and clinical variability of genodermatoses. Cutaneous manifestations often serve as external markers for underlying systemic or genetic abnormalities. In resource-constrained settings, careful clinical evaluation supplemented by targeted investigations remains essential for diagnosis and management. Early recognition is crucial not only for medical treatment but also for genetic counselling and psychological support.