Olmsted syndrome: report of a new case with unusual features

Abstract

Olmsted syndrome is a rare disorder characterized by the combination of periorificial keratotic plaques and bilateral palmoplantar keratoderma. New associated features continue to be reported. Olmsted syndrome in a female patient is particularly rare, and we report such a case having a haemangioma in addition to other features of the syndrome.

Olmsted syndrome

“…This syndrome seems to be of sporadic occurrence4 although a familial case possibly due to autosomal dominant transmission5 and another case with X-linked dominant inheritance in two monozygotic male twins have been reported 6. 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 7.…”

“…Five cases have now been reported3 but only one has been observed in a female so far 4. Nevertheless, Olmsted syndrome still remains a rarely reported condition.…”

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

“…[3][4][5][6][7][8][9] Severe itching at the affected regions, impaired hair growth, hearing loss, and loss of terminal portion of the limbs, auto-amputation of digits, loss-of-bones and/or osteonecrosis are other specific features of OS. [9][10][11] There is no satisfactory treatment for this disease as different agents such as salicylic acid, urea, boric acid, shale oil, retinoic acids, corticosteroids, anti-microbial drugs, antihistamines, vitamin-E, vitamin-A and other emollients failed to improve the pathological conditions. 11 Surgical removals of affected skin and autografting have also been unsuccessful due to the recurrence problem.…”

“…[9][10][11] There is no satisfactory treatment for this disease as different agents such as salicylic acid, urea, boric acid, shale oil, retinoic acids, corticosteroids, anti-microbial drugs, antihistamines, vitamin-E, vitamin-A and other emollients failed to improve the pathological conditions. 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.…”

“…[4][5]8,11,17,18 The exact mode of inheritance of OS is not well established. Sporadic occurrence, autosomaldominant, X-linked dominant and X-linked recessive modes of inheritance had been proposed.…”