Olmsted Syndrome

Olmsted syndrome is a rare congenital, sharply circumscribed transgredient palmoplantar keratoderma. It was first described by Olmsted in 1927. The diagnosis of this rare disease depends on clinical features like 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. The disease has a slow but progressive and extremely disabling course. Treatment of Olmsted syndrome is often based on topical therapy with retinoic acid, corticosteroid, emollients, and keratolytics. The present paper describes a case of Olmsted syndrome and its treatment. 1. Case Report A 16 year-old female child presented with palmoplantar keratoderma, fissured lips, and mild scaling of the buttocks, fissures in the fingers and foot, perianal, vaginal, and nasal mucosa erosions, diffuse alopecia and sparse hair, nail dystrophy, and perianal hyperkeratotic plaque (Figures 1, 2, 3, 4, 5, and 6). The patient also has a congenital deafness, delayed speech, and development and learning difficulties. The skin biopsy demonstrated psoriasiform epidermal hyperplasia with marked hyperkeratosis, and mild acantopapilomatosis, focal porokeratosis, hypergranulosis and superficial perivascular inflammatory infiltration (Figure 7). The immunostaining showed ki67 (mib-1) positive in 45% of the basal cells and CKM (AE1AE3) strongly positive in suprabasal layer. According to the clinical presentation, biopsy and immunohistochemical studies results of the diagnosis of Olmsted syndrome were made. The treatment was made with keratolytics and emollients initially without improvement. We decided how her life’s quality was not good starting with systemic retinoid (acitretin) with a moderate clinical and life’s quality improvement after one year with this treatment (Figure 8). Figure 1: Plantar keratoderma. Figure 2: Erythema and fissured fingers. Figure 3: Diffuse alopecia. Figure 4: Nail dystrophy. Figure 5: Hyperkeratotic plaque on chin, perioral fissures. Figure 6: Perianal plaque. Figure 7: Histopathological exam. Figure 8: Improvement of perianal hyperkeratotic plaque after treatment. 2. Discussion Olmsted syndrome is a rare congenital disorder, characterized by bilateral sharply circumscribed transgredient palmoplantar keratoderma and periorificial keratotic plaques. Palmoplantar keratoderma may lead to flexural deformities and spontaneous amputation of the fingers [1–5]. It was first described by Olmsted in 1927. Until recently, only 46 individuals had been reported, including 36