Clinical diversity of epidermolytic hyperkeratosis- A study of 5 cases

Background: Epidermolytic hyperkeratosis (EHK) is a histopathological entity used for wide variety of clinical presentations. The primary pathological process is clumping of keratin filaments which is due to mutation in gene encoding for keratin 1 and 10 and thus they are clustered under a umbrella term ‘Keratopathic ichthyosis’. The estimated prevalence of the disease is 1:200,000~300,000.We are presenting 5 clinical cases of EHK of sporadic nature. Method: Clinically appearing cases of EHK further proven on biopsy were included in the study. Detailed clinical history with examination and photographs were undertaken after proper consent. The results were analysed thereafter and classified. Results: We found one case with bullous congenital ichthyosiform erythroderma of Brocq (NPS 1).Two cases of Ichthyosis hystrix one each of Curth and Macklin and Lambert type, one case of systematised epidermal nevus, and one case of Ichthyosis bullosa of Siemens. All the cases were sporadic in nature. Conclusion: EHK can have varying clinical presentations.Genetic counselling and pre natal testing can pick up early cases and help further.