Olmsted Syndrome: The Clinical Spectrum of Mutilating Palmoplantar Keratoderma

Abstract

Olmsted syndrome is a rare variety of transgredient palmoplantar keratoderma with an undefined inheritance pattern. It starts in the neonatal period or in childhood and has a progressive and extremely disabling course. We report two new, unrelated patients with Olmsted syndrome, one with the early signs and symptoms of the disorder, the other showing the full-blown spectrum of the syndrome during a 30-year follow-up period.

A Missense Mutation in the MBTPS2 Gene Underlies the X-Linked Form of Olmsted Syndrome

“…The minimum diagnostic criteria for OS were periorificial keratotic plaques and bilateral palmoplantar transgredient keratoderma (Bergonse et al, 2003). The probands did not have features specific to BRESEK/BRESHECK syndrome such as hearing loss, skeletal abnormalities, or dysmorphic features.…”

Olmsted syndrome

“…Acrodermatitis enteropathica also needs to be excluded by measurement of zinc levels. 2 There is no satisfactory treatment for this condition. Topical treatments include solution of potassium permangenate, wet dressing, salicylic acid in various concentrations, boric acid, urea, tar, retinoic acid, shale oil, corticosteroids and prolonged soaking of the affected parts in warm water.…”

Olmsted syndrome

“…The main dermatologic findings are summarized in Tables I and II. As in our patient, nonperiorificial keratotic lesions on different parts of the extremities (other than palms and soles) and in the intertriginous folds have frequently been mentioned. Such lesions appeared as linear, streaklike hyperkeratoses 8,10,14,16,[27][28][29] and follicular keratosis-like keratotic papules. 2,8,10,[13][14][15]22,28,30 In the current case and in two monozygotic twins, 18 scanning electron microscopy of hair revealed changes such as twisting of hair shafts, trichorrhexis nodosa, transverse fractures, and disturbance of the cuticle cell pattern.…”

“…1,4 Recurrent bacterial and/or candidal infections, mainly in keratotic areas, were common. 14,15,19,23,25,28 Osteoporosis-osteolysis of hands and feet may occur. 2,3,8,21,23,29 Ogawa et al 29 have attributed this to either a genetic effect or to an inflammatory process.…”