Olmsted syndrome: report of a new case

Abstract

We report the case of a 20-year-old man, who was born with an intense erythema of the genital area, unresponsive to any treatment employed. When he was 9 months old, he presented with well-defined hyperkeratotic erythematous plaques around the mouth, eyes, nose, and perianal area, with similar plaques on the lateral aspect of the neck and axillae. At the same time the erythema of the genital area became hyperkeratotic. When he was 2 years old, he presented with a disabling palmoplantar keratoderma, initially focal, and later diffuse, also unresponsive to local or systemic treatments employed. The lesions have varied during the course of the disease without ever clearing completely. The axillary and inguinal plaques have shown spontaneous resolution on occasion. Six skin biopsies have been performed with no conclusive histological diagnosis of any of the typical disorders of keratinization. All treatments, topical and systemic, including etretinate and acitretin, have failed to improve the condition. We believe that this patient has Olmsted syndrome, a rare form of palmoplantar keratoderma with periorificial keratotic plaques.

Olmsted syndrome: report of a new case with unusual features

“…1 These two features are the hallmarks for the diagnosis of this condition. 2 Other features associated with the syndrome were described subsequently by various other authors, and new associated features continue to be reported. Nevertheless, it remains a rarely reported entity.…”

“…Although new cases have increased the number of cutaneous and systemic features that may be seen in this disease, it is widely accepted that the two major findings that are prerequisites for diagnosis are the symmetrical involvement of the palms and soles with keratoderma, and symmetrical hyperkeratotic plaques in the periorificial areas. 2 The syndrome seems to be of sporadic occurrence, 4 although a familial case with a possible autosomal dominant transmission 5 and another case with X-linked dominant transmission in two monozygotic male twins 6 have been reported. The pathogenesis of this disorder is poorly understood but it is now believed to be a disorder of keratinization, and Kress et al found a defect in the expression of mature epidermal keratins (types 1 and 10) and persistence of acidic keratins (types 5 and 14) in the involved epidermis.…”

“…9 In addition to palmoplantar keratoderma, hypotrichosis, onychodystrophy, joint laxity and periorificial keratotic plaques (all seen in our case), other features reported occasionally in these cases include hyperkeratotic follicular lesions, linear hyperkeratosis of extensor surfaces of extremities, hyperhidrosis of palms and soles, anhidrosis, leucokeratosis, chronic blepharitis, absent premolars, hearing loss, corneal epithelial dysplasia and corneal opacities. 2 Patients with Olmsted syndrome may show a higher susceptibility to develop epidermal tumours such as squamous cell carcinoma and epithelioma cuniculatum. 10 The disease has a slow but progressive course.…”

Olmsted Syndrome

“…The two major ones are the symmetrical involvement of keratoderma of the palms and soles and the symmetrical hyperkeratotic plaques around the body orifices. It starts in the neonatal period or in childhood [2–5]. The disease has a slow but progressive and extremely disabling course [1, 3, 4].…”

“…In addition, perianal and inguinal plaques frequently show maceration and infection by bacteria and Candida albicans [4]. The differential diagnosis includes other syndromes of palmoplantar keratoderma and hyperkeratotic syndromes [2–5]. …”