Olmsted Syndrome: Report of Two New Cases and Literature Review

Abstract

Olmsted syndrome is a rare keratinization disorder; 18 cases have been published so far. It associates a mutilating cogenital palmoplantar keratoderma with periorificial erythematokeratotic lesions. We report herein two new unrelated male children with Olmsted syndrome (OS), one of whom was studied by light and electron microscopy. Our histological, immunohistochemical, and ultrastructural findings suggest that this disease is related to epidermal hyperproliferation. We present herein a review of the twenty cases published so far and discuss the major clinicopathological and genetic features of this disease.

Olmsted Syndrome?Palmoplantar and Periorificial Keratodermas: Association with Malignant Melanoma

“…Although some authors reported good results with surgery, 10,14,26 full-thickness excision and skin grafting is unreliable because hyperkeratosis may recur at the grafted site and may develop at the donor site as a result of a Koebner phenomenon. Methotrexate 25 and systemic corticosteroids 8,15,19 do not control the lesions. Systemic retinoids appear to be the most promising therapeutic agents.…”

“…Their study showed a suprabasilar staining pattern with AE1, a monoclonal antikeratin antibody that has specificity for immature keratins, showing only basilar staining in normal skin. Larregue et al 19 also reported abnormal ex- 24 demonstrated that hyperproliferative activity involves the basal and the suprabasal keratinocytes. The inheritance pattern of Olmsted syndrome is unknown.…”

“…It is already the treatment of choice for a number of palmoplantar keratodermas, and seven authors reported good results in Olmsted syndrome patients. 12,13,16,[18][19][20]26 Etretinate induces cellular differentiation, is antiproliferative and antiinflammatory, normalizes keratinization, and has inhibitory activity on neutrophil chemotaxis. 31 Our patient showed major improvement of the palmoplantar and genital lesions during etretinate therapy.…”

TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes

“…11 Surgical removals of affected skin and autografting have also been unsuccessful due to the recurrence problem. [12][13][14][15][16] The hallmarks of OS represent an exceptional case that excludes this disorder from other syndromes of keratoderma. OS shares etiological similarities with symptoms of carcinoma and indeed co-occurrence of squamous cell carcinoma and adenocarcinoma of the lung in certain cases of OS is also reported.…”

“…17 OSpatients have higher susceptibility to develop epidermal tumors. 16 All these factors render OS as a clinically important etiology for its uniqueness.…”