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Article

Ichthyosis follicularis syndromes in patients with mutations in GJB2.

Clinical and experimental dermatology - 1 Aug 2022

Youssefian Leila, Naji Mahtab, Park Jason S, Rajabi Fateme, Abdollahimajd Fahimeh, Mahmoudi Hamidreza, Kamyab-Hesari Kambiz, Ghalamkarpour Fariba, Zabihi Masoud, Teimoorian Mehrdad, Youssefian Laya, Zeinali Sirous, Vahidnezhad Hassan, Uitto Jouni

Abstract excerpt

Ichthyosis follicularis (IF) manifests as generalized spiny follicular projections found in syndromic diseases secondary to SREBF1 and MBTPS2 mutations. We sought the genetic cause of IF in two distinct families from a cohort of 180 patients with ichthyosis. In Family 1, the proband (Patient 1) presented with IF, bilateral sensorineural hearing loss and punctate palmoplantar keratoderma. Using DNA from peripheral...

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Deafness
Hearing Loss, Sensorineural
Ichthyosis
Mutation

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PMID: 35396755
DOI: 10.1111/ced.15217

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