This 13-year-old girl was admitted to the hospital for evaluation of severe chronic palmoplantar keratoderma, short stature, and dysmorphic facies. Minimal scaling of the digits first appeared at age 2 years. At the age of 3 she developed scaling on the soles with only slight involvement of the palms. The disease was slowly progressing, with accompanying itching, pain, hyperhidrosis, and occasional development of deep fissures. Several therapeutic attempts, including etretinate at a dose of 10mg/day (0.9 mg/kg/day) for 12 months at the age of 7 and topical salicylic acid, urea and steroids produced no improvement. Mechanical debridement of hyperkeratotic plaques was painful and ineffective. Further progression resulted in too much pain to walk by age 8. In recent months palmar changes have become more pronounced leading to limitation of manual functions. Laboratory findings were within normal range. Her clinicians are searching for new treatment options.
Description
confluent thick yellow scale with yellowing and thickening of nails
