Background Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is an ultra-rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss. The disease usually manifests at birth by generalised erythaema and ichthyosiform lesions.
Purpose To describe the evolution of a patient with keratitis syndrome (hystrix-like) ichthyosis deafness treated with topical mefloquine.
Material and methods Analysis in the clinical station programme in the evolution of a patient diagnosed with keratitis (hystrix-like) ictiosis deafness syndrome after receiving topical mefloquine. Review of the literature: Pubmed®, EMBASE®, Cochrane® and UpToDate®.
Results A 4-year-old patient with universal alopecia, hyperkeratotic scabby lesions on the scalp, plantar hyperkeratosis, pachyonychia, subungual hyperkeratosis and nail dystrophy in hands and feet. Clinical judgment: KID syndrome, CIE Q80.8, ichthyosis with F142 L mutation in the Exon 1 gene GJB2, which codes for connexin 26 (a pathognomonic mutation of deafness in keratitis and hystrix-like syndrome).
The patient had been previously unsuccessfully treated with acitretin and cyclosporine. The pharmacy service produces 1% topical mefloquine after reviewing the literature. According to Noah A. Levit et al.,1 quinine derivatives inhibited haemichannels involved in KID syndrome, and mefloquine-inhibited connexin 26 in Xenopus laevis oocytes. Its use was approved at the hospital pharmacy.
The 1% mefloquine ointment was started together with placebo ointment, one in each half-body, both every 12 hours. In the areas treated with mefloquine, it achieved clear improvement. After 8 months of treatment, loss of effect was observed. Concentration was increased to 5%, but it produced irritation in the areas where it was applied, and it had to be spaced at one application every 48 hours. Two months’ later, treatment was simultaneously initiated via topical and oral, with loss of efficacy and increase in hyperkeratotic lesions.
Conclusion For an extremely rare disease such as KID syndrome, mefloquine seems to offer temporary symptomatic relief, although the evidence is minimal, given the scarce frequency it presents. More patients with KID syndrome should be treated with mefloquine in order to increase the evidence.
Reference and/or Acknowledgements 1. Levit N, Sellitto C, Wang H, Li L, Srinivas M, Brink P, et al. Aberrant connexin26 hemichannels underlying keratitis-ichthyosis-deafness syndrome are potently inhibited by mefloquine. J Invest Derm2015;135(4):1033–1042.
No conflict of interest
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.