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Oct 2012

Diffuse Hyperkeratosis in a Deaf and Blind 48-Year-Old Woman—Diagnosis

Author Affiliations
 

SECTION EDITOR: MARY S. STONE, MD; ASSISTANT SECTION EDITORS: SOON BAHRAMI, MD; CARRIE ANN R. CUSACK, MD; SENAIT W. DYSON, MD; MOLLY A. HINSHAW, MD; ARNI K. KRISTJANSSON, MD

Arch Dermatol. 2012;148(10):1200. doi:10.1001/archderm.148.10.1200-c

Histopathologic examination revealed massive laminated orthokeratosis with papillomatous acanthosis and innumerable fungal hyphae in the cornified layer highlighted with PAS. Culture grew Trichophyton rubrum. Connexin-26 gene (GJB2) sequencing identified a heterozygous mutation (c.148G>A). The patient was evaluated by the ophthalmology department and diagnosed as having severe open-angle glaucoma and diffuse keratitis of the cornea. Both retinas were nonviable, and she was not a candidate for a repeated corneal transplant. Daily warm water baths with diluted vinegar were begun. A compound containing 6% lactic acid and 10% urea in Aquaphor ointment (Beiersdorf AG) was applied twice daily. The patient was treated with oral fluconazole, 300 mg, once weekly for 4 weeks. She experienced a marked improvement in the hyperkeratosis of her trunk and scalp within 2 weeks.

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