Overview
Olmsted syndrome is an uncommon congenital palmoplantar keratoderma that is finely circumscribed and progressive. These lesions are accompanied by reddish skin and joint deformities that cause restriction and spontaneous amputation, as well as horny growths around the eyes and mouth, nail abnormalities, white thicker patches around the anus, and scanty hair. It is typically transmitted by autosomal dominant inheritance.
Clinical features
- Characteristic skin lesions on the palms, soles, and soles of the feet, around the eyes and mouth
- Lesions of the skin may be painful and/or itchy
- Flexion deformitis of fingers and toes
- Alopecia localis
- Whitening of the tongue
- Joint laxity
- Short stature
- Nail dystrophy
Diagnosis
- This condition is diagnosed following a thorough medical history and physical examination.
- Genetic testing is diagnostic. Gene variations (DNA alterations) in the TRPV3 and MBTPS2 genes are responsible for Olmsted syndrome.
Differential diagnosis
Treatment
Olmsted syndrome is frequently treated with topical retinoic acid, corticosteroid, emollients, and keratolytic agents.
Complications
Olmsted syndrome is slowly progressing and carcinogenic (especially squamous cell carcinoma). Among the ocular signs include hyperkeratosis of the lid margins, corneal dystrophy and opacity, and involvement of the lacrimal gland.
