A case of erythrokeratoderma variabilis without mutations in connexin 31

A case of erythrokeratoderma variabilis without mutations in connexin 31

British Journal of Dermatology

10.1046/j.1365-2133.2000.03902.x

http://dx.doi.org/10.1046/j.1365-2133.2000.03902.x

A. Ishida‐Yamamoto, D. Kelsell, J. Common, M.J. Houseman, M. Hashimoto, H. Shibaki, K. Asano, H. Takahashi, Y. Hashimoto, T. Senshu, I.M. Leigh, H. Iizuka

Genetics and Molecular Biology

11 March 2003

Ishida‐Yamamoto, A., Kelsell, D., Common, J., Houseman, M. J., Hashimoto, M., Shibaki, H., Asano, K., Takahashi, H., Hashimoto, Y., Senshu, T., Leigh, I. M., Iizuka, H. (2000). A case of erythrokeratoderma variabilis without mutations in connexin 31. British Journal of Dermatology, 143(6), 1283–1287. Portico. https://doi.org/10.1046/j.1365-2133.2000.03902.x

Erythrokeratoderma (EK) variabilis is a heterogeneous group of diseases characterized by migratory erythematous patches and hyperkeratotic plaques. Mutations in connexin 31 have recently been found to underlie several cases of EK variabilis. We describe a Japanese girl with extensive lesions that appeared to be a form of EK variabilis, clinically resembling genodermatose en cocardes (Degos). Our patient had characteristic migratory rosette or target-like erythematous keratotic plaques with peripheral scaling in addition to relatively fixed keratotic plaques. Sequencing of the connexin 31 gene did not detect mutations. Skin biopsy showed parakeratotic hyperkeratosis with hypergranulosis. Immunohistochemically, suprabasal keratins, involucrin and profilaggrin were unequivocally expressed, while loricrin expression was greatly diminished and deiminated K1 was undetectable. Our results confirm aetiological heterogeneity in EK. The histological features suggest disruption of keratinocyte terminal differentiation at a very late stage.

Publisher Copyright

This work was supported by grant-in-aid for scientific research (10470184 to A.I-Y.) and grant-in-aid for exploratory research (11877138 to A.I-Y.) from the Ministry of Education, Science, Sports and Culture of Japan.

This is a pre-copyedited, author-produced version of an article accepted for publication in British Journal of Dermatology following peer review. The version of record Ishida‐Yamamoto, A., Kelsell, D., Common, J., Houseman, M. J., Hashimoto, M., Shibaki, H., Asano, K., Takahashi, H., Hashimoto, Y., Senshu, T., Leigh, I. M., & Iizuka, H. (2000). A case of erythrokeratoderma variabilis without mutations in connexin 31. British Journal of Dermatology, 143(6), 1283–1287. Portico.  is available online at: https://doi.org/10.1046/j.1365-2133.2000.03902.x

https://oar.a-star.edu.sg/communities-collections/articles/20159

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