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A case of palmoplantar lichen planus in a patient with congenital sensorineural deafness
Author(s) -
Ogawa A.,
Shimizu K.,
Yoshizaki A.,
Sato S.,
Kanda Y.,
Kumagami H.,
Takahashi H.,
Usami S.
Publication year - 2013
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2012.04374.x
Subject(s) - missense mutation , medicine , sensorineural hearing loss , dermatology , hyperkeratosis , palmoplantar keratoderma , skin biopsy , dysplasia , pathology , mutation , biopsy , hearing loss , genetics , gene , audiology , biology
Summary 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.