Olmsted syndrome Q82.8

A rare (fewer than 100 cases have been published to date) syndromic form of ichthyosis characterized by sharply demarcated palmoplantar keratoses, onychodystrophy, periorificial hyperkeratosis, and erythematous, hyperkeratotic plaques on the skin, which may also present as keratosis pilaris. The palmoplantar keratoses cause a tendency toward self-mutilation, which can lead to spontaneous amputation of toes or fingers.

Some authors regard this clinical picture as a “minus variant” of keratosis follicularis spinulosa decalvans (in the X-linked recessive variant of Olmsted syndrome, a mutation is present in the same gene (MBTPS2 gene)).

Confirmed 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 that belongs to the vanilloid receptor family. Vanilloid receptors on sensory skin nerves are cation channels that bind vanilloids and are activated, among other things, by capsaicin and heat. They mediate burning pain and itching. Repeated application of capsaicin leads to desensitization of the nerve fibers and suppression of itching. In Olmsted syndrome, erythromelalgiahas been observed as a concomitant condition.  

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

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

Keratolytic therapy on the hands and feet as well as on the skin using ointments containing 3–5%salicylic acid, 5–10%urea, or saline, with occlusion if necessary, see below: Diffuse circumscribed palmoplantar keratosis.

Attempt to reduce hyperkeratosis with retinoids such as acitretin (Neotigason) at the lowest possible dose, possibly < 10 mg/day, but under no circumstances > 30 mg/day. If inflammatory changes are the primary concern,glucocorticoids such asprednisolone (e.g., Decortin tablets) may be helpful, starting at 60 mg/day and tapering 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.
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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