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Balhara J, Gounni AS

Patients may also present ectropion, scalp alopecia, nail changes, hypertrichosis, and abnormal gait, among other symptoms.45 It is caused by dominant variants in KRT1046 or, much less frequently, in KRT1, whose reversions appear in adulthood.47 Healthy skin patches are caused by loss of heterozygosity of the mutated allele due to mitotic recombination events whose triggering factor is unknown, but is thought to be related to aberrant import of mutated keratins to the nucleus.45 - Other non-syndromic ichthyoses are shown in Table 3