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Abstract

January to March 2021 | Vol. 14 | Issue 1 | 06-09
Hystrix-like Ichthyosis and Deafness Syndrome in a Toddler
Kanika Singh1, Renu Saxena1, Rishi Parashar2, Sunita Bijarnia-Mahay1*
1Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi 2Department of Dermatology, Sir Ganga Ram Hospital, New Delhi
Address for Correspondence Email: bijarnia@gmail.com
 
Abstract
Hystrix-like ichthyosis and deafness (HID) syndrome is characterized by ichthyosis, erythrokeratoderma, alopecia and deafness in varying degrees of severity. The clinical manifestations are present since birth, evolve and gradually worsen. It occurs due to a single known mutation in the GJB2 gene. Early diagnosis and management and genetic counseling require a high index of suspicion for an underlying genetic basis in such skin disorders.
 
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