Keratitis, ichthyosis, and deafness syndrome: a case report / 中华皮肤科杂志

ABSTRACT

A 10 year-old female child developed erythema on the scalp,perioral area,neck,trunk,buttocks,palms and soles within 1 month after birth.Her skin was dry and rough,and the hairs were fine,soft,sparse and easily broken.As age advanced,typical hyperkeratosis and thickening of the skin occurred on an erythematous base.At the age of 5 years,the child developed photophobia and vision impairment.When the child was 8 years old,progressive hearing loss was observed.Physical examination revealed that the height and weight were 109 centimeters and 19 kilograms respectively.Skin examination showed fine,soft,sparse and easily-broken hair,large areas of brown plaques with crusts on the scalp,perioral area,neck,trunk and buttocks,and fissured,purulent and foul-smelling verrucous hyperplasia over these plaques.Brown to black hyperkeratotic plaques were scattered over the extremities,and diffuse hyperkeratosis occurred on the palms and soles.Both fingernails and toenails became thickened,cloudy and white with distal separation and deformation of the nail plate.As ophthalmic examination showed,the patient had photophobia,bilateral bulbar conjunctival hyperemia,corneal opacity and corneal vascular proliferation,and the visual acuity was 0.5 in the left eye and 0.2 in the right eye.Otolaryngological examination revealed moderate binaural sensorineural deafness.Stomatological examination showed enamel hypoplasia and diastema widening.Genetic testing showed a heterozygous mutation (c.C50T) in exon 2 of the gap junction protein beta 2 (GJB2) gene.Based on these clinical manifestations and examinations,the patient was diagnosed with keratitis,ichthyosis,and deafness (KID) syndrome.Skin lesions of the patient were significantly improved after the treatment with oral acitretin.