IP Library › Granted Patent US 12,491,186
Granted Patent B2
US 12,491,186 · App. 17/281,745 · Granted Dec 9, 2025

EGFR inhibitors for treating keratodermas

Inventors: Christine Bodemer (Paris, FR); Céline Greco (Villejuif, FR); Claude Boucheix (Villejuif, FR)
Assignees: INSERM (INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE); Assistance Publique-Hôpitaux de Paris (APHP); Université de Paris; Fondation Imagine; Université Paris-Sud
A61K31/517A61K31/4706A61K31/506A61K31/519A61K31/5377A61K31/675A61P17/12
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Quick Facts
Patent No.
US 12,491,186
App. No.
17/281,745
Granted
Dec 9, 2025
Kind
B2
Abstract

Olmsted syndrome (OS) is a rare genodermatosis classically characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma (PPK) and periorificial keratotic plaques. The inventors obtained remarkable results with a treatment with a EGFR inhibitor (e.g. erlotinib) in 3 patients with Olmsted Syndrome and erythemalgia linked to different TRPV3 mutations. In less than 3 months, the drug induced a complete disappearance of the hyperkeratosis and the pain. Anorexia and insomnia disappeared with an improvement of the growth. Accordingly, the present invention relates to the use of EGFR inhibitors for the keratodermas.

Claims (11)

1 . A method of treating Olmsted syndrome in a patient in need thereof comprising administering to the patient a therapeutically effective amount of an epithelial growth factor receptor (EGFR) inhibitor, wherein said patient harbors at least one transient receptor potential vanilloid-3 (TRPV3) mutation, and wherein said patient also suffers from erythromelalgia.

2 . The method of claim 1 wherein the patient is under the age of 20 years old.

3 . The method of claim 1 wherein the patient is under the age of 18 years old.

4 . The method of claim 1 wherein the patient is under the age of 15 years old.

5 . The method of claim 1 wherein the EGFR inhibitor is selected from the group consisting of brigatinib, erlotinib, gefitinib, icotinib, lapatinib, sapitinib, vandetanib, varlitinib afatinib, canertinib, dacomitinib, neratinib, osimertinib, pelitinib, and rociletinib.

6 . The method of claim 1 wherein the EGFR inhibitor is erlotinib.

7 . The method of claim 1 wherein the EGFR inhibitor is an inhibitor of the EGFR activating and signalling pathways.

8 . The method of claim 7 wherein the inhibitor of the EGFR activating and signalling pathways is an ADAM17 inhibitor or a transforming growth factor (TGF) alpha inhibitor.

9 . The method of claim 1 wherein the EGFR inhibitor is administered to the patient in a topical formulation.

10 . The method of claim 1 , wherein the TRPV3 mutation is p.G568C, p.G573S, p.G573C, p.L673F, p.W692G, or p.Gln216_Gly262del.

11 . The method of claim 1 , wherein 1-100 mg of the EGFR inhibitor is administered to the patient.

Assignments (2)
CHANGE OF NAME Recorded Jun 17, 2022
From: UNIVERSITE DE PARIS
To: UNIVERSITÉ PARIS CITÉ
Reel/Frame 060530/0623 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Oct 7, 2021
From: BODEMER, CHRISTINE; GRECO, CÉLINE; BOUCHEIX, CLAUDE
To: INSERM (INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE); ASSISTANCE PUBLIQUE-HÔPITAUX DE PARIS (APHP); UNIVERSITÉ DE PARIS; FONDATION IMAGINE; UNIVERSITÉ PARIS-SACLAY
Reel/Frame 057747/0722 →
Priority Claims (1)
EP 18306306 · Oct 4, 2018 · regional
Continuity (1)
Related Publication 20210393632A1 · Dec 23, 2021
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