Delayed diagnosis of a scaling genodermatosis

Published Date: 17th May 2023

Publication Authors: Harnett C, Al-Jubouri M, Meah N

Description
A man in his early 60s presented to the dermatology clinic with a lifelong history of dry, scaling skin. He had congenital deafness but no other medical problems. He had received a diagnosis of ichthyosis vulgaris several years ago and was treating the condition with topical emollients. Further questioning confirmed a positive family history; his maternal grandfather had been affected with the same skin changes, whilst his mother was reported to have had a milder presentation, with scale only affecting the shins. He has no brothers and one unaffected sister. He has no offspring.

Harnett, C; Al-Jubouri, M; Meah, N. (2023). Delayed diagnosis of a scaling genodermatosis. BMJ Case Reports. 16(5), p.e253838. [Online]. Available at: http://dx.doi.org/10.1136/bcr-2022-253838 [Accessed 11 July 2023]

 

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