No abstract

On November 7-8, 2008, physicians gathered in Houston Texas for the first-ever workshop on PHACE syndrome, an important and recently described neurocutaneous syndrome. This article represents a summary of the discussions held at that workshop, which was attended by a broad range of medical specialists.

Lichen sclerosus (LS) is a rare, chronic, inflammatory disease of the skin that primarily affects postmenopausal women but may occur in men and children as well. Approximately 7% to 15% of cases are believed to occur in children. The epidemiologic data for LS have been limited and treatment options are not well studied, particularly in children. We reviewed new developments available in the current literature on the epidemiology and management of LS for children.

Keratitis-ichthyosis-deafness (KID) syndrome is a rare hereditary cornification disorder resulting from mutations in connexin 26, a protein important for intercellular communication. In addition to the characteristic clinical triad of congenital bilateral sensorineural hearing loss, keratitis, and erythrokeratoderma, affected individuals also suffer from chronic bacterial and fungal infections and have an increased risk of benign and malignant cutaneous tumors. Treatments with antibiotics, antifungals, and systemic retinoids have been reported with variable response. Ocular and skeletal toxicity from prolonged exposure to systemic retinoids is a major concern especially in children. We report a case of a 7-year-old boy with KID syndrome complicated by frequent infections who responded well to acitretin 0.5-1.0 mg/kg/day. The patient had significant improvement of the hyperkeratosis on the scalp, trunk, and extremities within 4 weeks after initiating treatment. The patient has been on treatment for over a year without notable ocular, skeletal, or laboratory side effects. A review of the literature focusing on therapeutic options for KID syndrome and concerns about safety and tolerability is presented.