Research Development in Patients with Olmsted Syndrome / 罕见病研究

Olmsted syndrome (OS) is an extremely rare hereditary skin disease, that is usually characterized by mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques. The diagnosis of this disease depends primarily on the clinical presentation and OS has to be differentiated from other disorders associated with hyperkeratosis. In recent years, there have been many advances in molecular genetic research on the pathogenesis of the disease. The genes that can cause disease after specific mutations include TRPV3, MBTPS2/S2P and PERP. Therefore, genetic testing has become one of the important methods for the diagnosis of this disease.OS treatment is difficult, and conventional therapy uses topical drugs to soften the cuticle of the skin, or oral Avi A.Excision of palmoplantar keratosis may also be used for constricting rings that severely restrict movement, but they often reoccur after initial improvement. In terms of precision treatment, researchers have tried the small molecule drugs erlotinib and sirolimus and have achieved some results. This paper summarizes the etiology, pathogenesis, clinical manifestations, diagnosis, treatment and prognosis of OS, in order to improve the clinicans' awareness of OS.

Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene

Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic ‘gain-of-function‘ mutations of the transient receptor potential vanilloid 3 gene (TRPV3), which encodes a cation channel involved in keratinocyte differentiation and proliferation, hair growth, inflammation, pain and pruritus, have been identified to cause OS. Due to the rarity, the pattern of inheritance of OS is still unclear. We report a case of OS in a 3-year-old Korean girl and its underlying gene mutation. The patient presented with a disabling, bilateral palmoplantar keratoderma with onychodystrophy. She also exhibited pruritic eczematous skin lesions around her eyes, ears and gluteal fold. Genetic analysis identified a heterozygous p.Gly568Val missense mutation in the exon 13 of TRPV3. To our knowledge, this is the first case of OS in the Korean population showing a missense mutation p.Gly573Ser.

Olmsted syndrome in a baby girl and her mother / 中华皮肤科杂志

A 2-month-old baby girl developed universal keratotic plaques soon after birth. Physical examination revealed well-defined, dark erythematous, keratotic plaques with thick scales and mild infiltration at the periorbital, perioral, perianal and vulvar regions, as well as deep fissures of both hands and feet covered with thick yellowish crusts. Another case was a 24-year-old female, the mother of the baby, who presented with hyperkeratotic plaques at perioral and perianal regions, congenital alopecia universalis, mutilation of fingers and toes with massive thick keratotic yellow crusts and scales. Histopathology of skin lesions from the gluteal region of the baby showed psoriasiform hyperplasia of the epidermis, slight inflammatory infiltration of dermal papillae and superficial dermal perivascular regions. Immunohistochemistry demonstrated the positive staining for acidic keratin (AE1) in the prickle cell layer and granular layer and for CK10 in the upper prickle cell layer and granular layer. Electron microscopy showed increased cell space and decreased tonofilament. Both the baby girl and her mother were diagnosed with Olmsted syndrome.