Literature DB >> 22924538

A case of palmoplantar lichen planus in a patient with congenital sensorineural deafness.

A Ogawa1, K Shimizu, A Yoshizaki, S Sato, Y Kanda, H Kumagami, H Takahashi, S Usami.   

Abstract

We report a case of palmoplantar lichen planus in a 7-year-old Japanese girl with congenital deafness, who presented with erythematous eruptions and hyperkeratosis, with peeling and fissures on her soles, palms and digits. On histological examination of a skin biopsy from the lesion on her wrist, lichen planus was identified. Using computed tomography of the inner ears, bilateral cochlear dysplasia was found. The patient's DNA was sequenced; no sequence variants were detected in the GJB2 gene encoding connexin-26, but she had a missense mutation in SLC26A4 (solute carrier family 26, member 4). Mutations in SLC26A4 are known causes of hearing loss, but this is a novel mutation, which has not been reported previously. In addition, there have been no reports of cutaneous symptoms in previously reported patients with mutations in SLC26A4. To our knowledge, therefore, this is the first report of palmoplantar lichen planus associated with sensorineural deafness accompanied by a mutation in the SLC26A4 gene. © The Author(s). CED
© 2012 British Association of Dermatologists.

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Year:  2012        PMID: 22924538     DOI: 10.1111/j.1365-2230.2012.04374.x

Source DB:  PubMed          Journal:  Clin Exp Dermatol        ISSN: 0307-6938            Impact factor:   3.470


  2 in total

1.  Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.

Authors:  Mengnan Li; Shin-Ya Nishio; Chie Naruse; Meghan Riddell; Sabrina Sapski; Tatsuya Katsuno; Takao Hikita; Fatemeh Mizapourshafiyi; Fiona M Smith; Leanne T Cooper; Min Goo Lee; Masahide Asano; Thomas Boettger; Marcus Krueger; Astrid Wietelmann; Johannes Graumann; Bryan W Day; Andrew W Boyd; Stefan Offermanns; Shin-Ichiro Kitajiri; Shin-Ichi Usami; Masanori Nakayama
Journal:  Nat Commun       Date:  2020-03-12       Impact factor: 14.919

2.  Carrier re-sequencing reveals rare but benign variants in recessive deafness genes.

Authors:  Longxia He; Xiuhong Pang; Penghui Chen; Xiaowen Wang; Tao Yang; Hao Wu
Journal:  Sci Rep       Date:  2017-09-12       Impact factor: 4.379

  2 in total

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