John Libbey Eurotext

European Journal of Dermatology


Exome sequencing in a Chinese family reveals TTC9 mutation associated with keratitis-ichthyosis-deafness (KID) syndrome Volume 28, issue 4, July-August 2018


  • Figure 1
Dermatology Hosptial Southern Medical University and Guangdong Provincial Dernatology Hospital, Guangdong Guangzhou 510095, Guangzhou, China

Keratitis-ichthyosis-deafness (KID) syndrome is a congenital ectodermal disorder without an established, clear mode of inheritance. KID syndrome is characterized by erythrokeratoderma, sensorineural hearing loss, and vascularizing keratitis [1]. Approximately 100 KID syndrome cases have currently been reported worldwide [2]. While the majority of these reported cases are sporadic, both autosomal recessive and autosomal dominant cases have been reported. To date, a total of only 11 families affected [...]