Olmsted syndrome


Olmsted syndrome

Description, Causes and Risk Factors:

Congenital palmar, plantar, and periorificial keratoderma leading to flexion contractures and digital spontaneous amputation.

Abbreviation: OS.

Olmsted syndrome is a rare keratinization disorder characterized by combination of periorificial keratotic plaques and bilateral palmoplantar transgredient keratoderma. These hallmarks represent an exceptional combination of findings, and allow the exclusion of other syndromes of keratoderma. Other clinical manifestations include diffuse alopecia, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular keratosis, and constriction of the digits. OS is a very rare condition, and almost 20 cases have so far been reported.

The disease has a slow and progressive course over many weeks or months. The keratoderma which is initially soft, hardens and an erythematous halo develops around them. Finally, after many months and years, progression of keratoderma to the dorsal aspect of hands and feet may lead to flexion contracture of the fingers and Ainhum deformity. The keratotic lesions are pruritic and mildly painful with pressure. Patients with OS may show a higher susceptibility to develop epidermal tumors such as squamous cell carcinoma and epithelioma cuniculatum. Some improvement of the lesions during the summer months and a clear improvement of the keratoderma during febrile diseases may occur.

The genetic basis for OS remained unidentified. Using whole-exome sequencing of case-parents trios, researchers have identified a de novo missense mutation in TRPV3 that produces p.Gly573Ser in an individual with OS. Nucleotide sequencing of five additional affected individuals also revealed missense mutations in TRPV3 (which produced p.Gly573Ser in three cases and p.Gly573Cys and p.Trp692Gly in one case each). Encoding a transient receptor potential vanilloid-3 cation channel, TRPV3 is primarily expressed in the skin, hair follicles, brain, and spinal cord. In transfected HEK293 cells expressing TRPV3 mutants, much larger inward currents were recorded, probably because of the constitutive opening of the mutants. These gain-of-function mutations might lead to elevated apoptosis of keratinocytes and consequent skin hyperkeratosis in the affected individuals. Our findings suggest that TRPV3 plays essential roles in skin keratinization, hair growth, and possibly itching sensation in humans and selectively targeting TRPV3 could provide therapeutic potential for keratinization or itching-related skin disorders.

This syndrome seems to be of sporadic occurrence although a familial case possibly due to autosomal dominant transmission and another case with X-linked dominant inheritance in two monozygotic male twins have been reported. Researchers 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. The majority of the published cases have been males; it has been rarely reported in females.

The disease has a slow but progressive course. The keratoderma becomes extremely thick and may interfere with normal walking. Fissuring around the toes that heals with a constricting band of tissue, leading to autoamputation of the digits, has been reported. The periorificial lesions may or may not improve with age.

Symptoms:

Symptoms may include the following:

    Symmetrical, sharply defined palmoplantar keratoderma surrounded by reddened skin and deformities of the joints that lead to constriction and spontaneous amputation.

  • Horny growths around the eyes and mouth.

  • Nail abnormalities.

  • White thickened patches of skin around the anus and in the mouth.

  • Sparse hair.

Diagnosis:

In the differential diagnosis of OS, one shouldconsider acrodermatitis enteropathica, congenitalpachyonychia, Mal de Meleda, Papillon Lefevresyndrome, Keratoderma hereditarium mutilans or Vohwinkel syndrome, hidrotic ectodermal dysplasia of theClouston type, and other forms of palmoplantarkeratodermas.

Obtain radiographs of the hands and feet to detect abnormalities of the underlying bones. Use craniofacial imaging studies if clinical findings justify them. Signs and symptoms of Olmsted syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Olmsted syndrome.

Treatment:

There is no satisfactory treatment for this condition. Topical treatments include solution of potassium permanganate, wet dressing, salicylic acid in various concentrations, boric acid, urea, tar, retinoic acid, corticosteroids, and prolonged soaking of the affected parts in warm water. Application of a hydrocolloid dressing can decrease pain in patients with deep fissure. Oral retinoids have proved effective in some cases. For nonresponsive patients, full-thickness excision of hyperkeratotic plaques followed by skin grafting is another therapeutic option to alleviate the pain. This treatment may improve flexion contracture of the fingers, but the risk of recurrence persists.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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