Observation |

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.
Text Size: A A A
Published online


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.

Figures in this Article

Sign In to Access Full Content

Don't have Access?

Register and get free email Table of Contents alerts, saved searches, PowerPoint downloads, CME quizzes, and more

Subscribe for full-text access to content from 1998 forward and a host of useful features

Activate your current subscription (AMA members and current subscribers)

Purchase Online Access to this article for 24 hours

First Page Preview

View Large
First page PDF preview


Place holder to copy figure label and caption
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.

Graphic Jump Location
Place holder to copy figure label and caption
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.

Graphic Jump Location




Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).
Submit a Comment


Some tools below are only available to our subscribers or users with an online account.

Web of Science® Times Cited: 1

Sign In to Access Full Content

Related Content

Customize your page view by dragging & repositioning the boxes below.

Articles Related By Topic
Related Topics
PubMed Articles