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Case Reports
. 2022 Jun 7:25:83-85.
doi: 10.1016/j.jdcr.2022.05.029. eCollection 2022 Jul.

Treatment of TRPV3 mutation-associated Olmsted syndrome with erlotinib

Kathleen E Spitz  1 , Lena Chu  1 , Leslie P Lawley  1
Affiliations
Case Reports

Treatment of TRPV3 mutation-associated Olmsted syndrome with erlotinib

Kathleen E Spitz et al. JAAD Case Rep. .
No abstract available

Keywords: EGFR, epidermal growth factor receptor; OS, Olmsted syndrome; Olmsted syndrome; PPK, palmoplantar keratoderma; TRPV3, transient receptor potential vanilloid-3; erlotinib.

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Conflict of interest statement

None disclosed.

Figures

Fig 1
Fig 1
Trauma-related plaques on the plantar surface of the right heel. Injury preceded thick hyperkeratotic plaques growing and forming in the same area.
Fig 2
Fig 2
Solitary, dome-shaped, yellowish, firm plaque with surrounding subtle erythema on the plantar surface of the right heel that formed after a splinter was removed.
Fig 3
Fig 3
Histologic preperation from a biopsy of a keratotic plaque of the plantar surface of the right heel demonstrating epidermal filliform acanthosis and hyperkeratosis with dilated superficial dermal vessels (H&E stained section at 4× magnification).
Fig 4
Fig 4
Plantar surface of the right foot showing mild erythema and subtle hyperkeratosis following therapy with erlotinib 50 mg for 3 months.
See this image and copyright information in PMC

References

    1. Greco C., Leclerc-Mercier S., Chaumon S., et al. Use of epidermal growth factor receptor inhibitor erlotinib to treat palmoplantar keratoderma in patients with Olmsted syndrome caused by TRPV3 mutations. JAMA Dermatol. 2020;156(2):191–195. doi: 10.1001/jamadermatol.2019.4126. - DOI - PMC - PubMed
    1. Tao J., Huang C.Z., Yu N.W., et al. Olmsted syndrome: a case report and review of literature. Int J Dermatol. 2008;47(5):432–437. doi: 10.1111/j.1365-4632.2008.03595.x. - DOI - PubMed
    1. Cheng X., Jin J., Hu L., et al. TRP channel regulates EGFR signaling in hair morphogenesis and skin barrier formation. Cell. 2010;141(2):331–343. doi: 10.1016/j.cell.2010.03.013. - DOI - PMC - PubMed
    1. Lin Z., Chen Q., Lee M., et al. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. Am J Hum Genet. 2012;90(3):558–564. doi: 10.1016/j.ajhg.2012.02.006. - DOI - PMC - PubMed

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