Olmsted Syndrome

Abstract

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.

Olmsted syndrome: clinical, molecular and therapeutic aspects

“…Hearing loss for high frequencies and congenital deaf-mutism are noted in few OS patients [ 6 , 11 , 29 , 48 ].…”

“…The pathogenesis of OS is poorly understood. However, a defect in the expression of mature epidermal keratins (1 and 10) and persistence of basal keratins (5 and 14) was reported [ 20 , 21 , 27 , 45 ], as well as increased expression of Ki-67, a mitotic activity marker in basal and suprabasal layers [ 29 , 44 , 48 ]. Thus, involved areas remain in an immature state and continue to proliferate in an improper fashion.…”

Hypotrichosis in a child with olmsted syndrome

“…Other reported changes include sparse, brittle, lustreless hair, woolly hair, congenital absence of eyebrows and eyelashes along with hypotrichosis of the scalp, which eventually progressed to alopecia totalis, pilitorti, piliannulati, pseudomonolethrix, and reduced number of hair follicles with minimal scarring. [ 5 6 7 8 ] TRPV3 plays an important role in skin keratinization, hair growth, and itching sensation in humans, and TRPV3 mutation can elevate intracellular calcium concentrations, induce apoptosis, and inhibit hair growth. [ 9 ] Thus, our patient could have had TRPV3 mutation resulting in hypotrichosis.…”

“…Malignancies such as squamous cell carcinoma and malignant melanoma may occur on keratoderma plaques. [ 7 ] Various systemic medications such as systemic retinoids, corticosteroids, and methotrexate have been tried with minimal or no response. [ 1 7 ] Topical medications such as calcipotriol, emollients, and keratolytics have also been tried.…”

“…[ 7 ] Various systemic medications such as systemic retinoids, corticosteroids, and methotrexate have been tried with minimal or no response. [ 1 7 ] Topical medications such as calcipotriol, emollients, and keratolytics have also been tried. [ 5 ] Surgical treatment modalities that have been tried are full thickness excision of keratoderma followed by split skin graft.…”