Course: Olmsted Syndrome
CME Credits: 1.00
Released: 2023-12-06
A 6-year-old girl presented with symmetrical massive keratotic plaques on the palms, soles, and perioral area, as well as hair loss for 4 years. The lesions started as erythematous and eczematous patches on the perioral and perianal areas at 1 month of age. Around the age of 2 years, focal erythema appeared on her palms and soles, which progressed to hard and thickened hyperkeratotic plaques with painful fissures (Figure, A). Later, generalized hypotrichosis, hypoplastic teeth, and dystrophic nails were noted (Figure, B). The child was born to nonconsanguineous parents. Her mother exhibited alopecia. Her laboratory results, including routine blood cell count, liver and kidney function tests, and serum zinc level, were unremarkable. Dermoscopy of the scalp showed follicular keratinization with sparse curled hair. A skin biopsy specimen obtained from the left sole revealed hyperkeratosis and parakeratosis with hypogranulosis in the epidermis. The whole-exome sequencing of the peripheral blood samples from the patient and her mother revealed a heterozygous missense mutation of c.1717G>T (p.Gly573Cys) of transient receptor potential vanilloid-3 (TRPV3), confirming the diagnosis of Olmsted syndrome (OS). After 6 months of treatment with oral acitretin, 10 mg, daily; topical corticosteroids; and urea cream, 20%, and moisturizer twice daily, the patient showed mild improvement.
To identify the key insights or developments described in this article
View Full Course