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Clouston Syndrome With Heterozygous GJB6 Mutation p.Ala88Val and GJB2 Variant p.Val27Ile Revealing Mild Sensorineural Hearing Loss and Photophobia

Kazumitsu Sugiura, MD, PhD1; Masaaki Teranishi, MD, PhD2; Yoshinari Matsumoto, MD, PhD3; Masashi Akiyama, MD, PhD1
[+] Author Affiliations
1Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
2Department of Otorhinolaryngology, Nagoya University Graduate School of Medicine, Nagoya, Japan
3Department of Dermatology, Aichi Medical University, Aichi, Japan
JAMA Dermatol. 2013;149(11):1350-1351. doi:10.1001/jamadermatol.2013.4766.
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Clouston syndrome (CS) and keratitis-ichthyosis-deafness (KID) syndrome are rare autosomal dominant ectodermal dysplasias caused by germline mutations in the connexin genes GJB6 and GJB2, respectively, which encode the closely related gap junction proteins Cx30 and Cx26.1,2 The triad features of CS are nail dystrophy, hair loss, and palmoplantar keratoderma (PPK). Usually, photophobia and sensorineural hearing loss (SNHL) are lacking in CS. We describe herein a patient with CS, photophobia, and SNHL.

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Figure 1.
Clinical Features of the Patient With Clouston Syndrome

A, Atrichia of the scalp and erythema on the scalp and the neck. B, Nail dystrophy with short, thickened nail plates. C, Diffuse plantar keratoderma with rough, cobblestone-like surface.

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Figure 2.
Reported Clouston Syndrome (CS) Causative Mutations in Gap Junction Protein Cx30

Generally, a patient with CS and the GJB6 mutation p.Ala88Val but without the GJB2 variant p.Val27Ile has neither sensorineural hearing loss (SNHL) nor photophobia (red circle). In contrast, the present patient (yellow circle), with both the GJB6 mutation p.Ala88Val and the GJB2 variant p.Val27Ile, has SNHL and photophobia. CL indicates cytoplasmic loop; E1 and E2, extracellular domains 1 and 2; M1 through M4 indicate transmembrane domains 1 through 4; blue circle, keratitis-ichthyosis-deafness syndrome accompanied by congenital atrichia, palmoplantar keratoderma, and nail dystrophy; and white circles, CS.

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