Rare genodermatosis. Usually sporadic mutation, but cases of autosomal dominant, recessive or X-linked transmission have been described. The genes involved are: TRPV3 (17p13.2) [MIM 614 594](OLMS1), MBTPS2 (Xp22.12) [MIM 300 918](OLMSX), and PERP (6q23.3)[MIM 619 208](OLMS2). Palmoplantar keratoderma (painful yellow-grey keratotic plaques on the palms and soles), and around natural orifices (mouth, anus). 

Sometimes: hypotrichosis, hypoplastic teeth, dystrophic nails. The clinical presentation varies: hair abnormalities, deformed teeth and nails, spontaneous amputation of fingers (following bacterial or mycotic superinfection). Sometimes: intellectual retardation, ENT or ophthalmological problems.

Treatment: local (emollients such as urea), cortisone ointment, antimycotics), general (sirolimus or erlotinib), and antibiotics in case of infection.

Increased risk of squamous cell carcinoma and melanoma.

Anesthetic implications: 

Treatment side-effects, antibioprophylaxis

References : 

-        Duchatelet S, Hovnanian A.
Olmsted syndrome: clinical, molecular and therapeutic aspects.
Orphanet J Rare Diseases 2015 ; 10 : 33

-        Huang Y-Y, Li J-H.
Olmsted Syndrome.
JAMA Dermatology, Published online December 6, 2023

Updated: December 2023