Olmsted syndrome Q82.8

Rare (<100 cases have been published) syndromic ichthyosis with sharply demarcated palmoplantar keratoses, onychodystrophy, periorificial hyperkeratoses and erythematous hyperkeratotic plaques in the region of the integument, which may also appear under the picture of keratosis pilaris. The palmoplantar keratoses cause a mutilation tendency, which can lead to spontaneous amputation of toes or fingers.

The clinical picture is considered by some authors as a "minus variant" of keratosis follicularis spinulosa decalvans (in the X-linked recessive variant of Olmsted syndrome there is a mutation in the same gene(MBTPS2 gene).

Detected mutation in the TRPV3 gene (seehttp://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPV3). The TRPV3 gene (transient receptor potential cation channel, subfamily V, member 3) encodes a receptor protein belonging to the vanilloid receptor family. Vanilloid receptors on sensitive skin nerves are cation channels that bind vanilloids and are activated by capsaicin and heat, among other stimuli. They mediate burning pain and itching. Repeated capsaicin application leads to desensitization of the nerve fiber and suppression of itching (see also pruritus). In Olmsted syndrome, erythromelalgia has been observed concomitantly.

In an X-linked recessive variant of Olmsted syndrome, mutations in the MBTPS2 gene (membrane-bound transcription factor protease, site 2) were detected (Duchatelet S et al. 2015).

Acrodermatitis enteropathica; Keratosis palmoplantaris transgrediens; Erythrokeratodermia progressive symmetrica; Pachyonychia congenita; Keratosis palmoplantaris mutilans; Papillon-Lefèvre syndrome.

Attempt to reduce hyperkeratosis with retinoids such as acitretin (neotigason) in the lowest possible dosage, possibly < 10 mg/day, but never > 30 mg/day. If inflammatory changes are in the foreground, glucocorticoids such as prednisolone (e.g. Decortin Tbl.) may be helpful, initially 60 mg/day, reduction to a maintenance dose of 3-6 mg/day.

1. Atherton DJ et al (1990) Mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmstedt`s syndrome). Br J Dermatol 122: 245-252
2. Bergonse FN et al (2003) Olmsted syndrome: the clinical spectrum of mutilating palmoplantar keratoderma. Pediatric dermatol 20: 323-226
3. Duchatelet S et al (2015) Olmsted syndrome: clinical, molecular and therapeutic aspects. Orphanet J Rare Dis10:33.
4. Fonseca E et al (2001) Olmsted syndrome. J Cutan pathogen 28: 271-275
5. Georgii A et al. (1989) Olmsted syndrome association with primary sclerosing cholangitis and immunodeficiency of unknown origin. Dermatologist 40: 708-712
6. Olmsted HC (1927) Keratoderma palmaris et plantaris congenitalis. On J Dis Child 33: 757-764