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January 5, 2022

Treatment of Keratin 16 Palmoplantar Keratoderma With Topical Erlotinib

Author Affiliations
  • 1Department of Dermatology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia
  • 2University of Sydney, Sydney, New South Wales, Australia
JAMA Dermatol. 2022;158(2):216-217. doi:10.1001/jamadermatol.2021.5302

Hereditary palmoplantar keratoderma (PPK) is a rare inherited disorder characterized by marked hyperkeratosis of the palms and soles. Resultant painful fissuring severely limits mobility, and despite substantial advances in determining PPK genetic defects, therapeutic options remain limited. Case reports of patients with Olmsted syndrome (TRPV3 variation) treated with systemic erlotinib, an epidermal growth factor (EGF) receptor inhibitor, demonstrated improvement in their PPK.1,2 Given its adverse effect profile,3 clinicians may be hesitant about administering erlotinib systemically for PPK alone. With knowledge that EGF signaling regulates the expression of keratin 16,4,5 we report our experience of treatment with topical erlotinib for 2 patients (mother and son) with hereditary PPK due to a pathogenic keratin 16 variation (c.379C>T, p.[Arg127Cys]).

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