A 15 year-old boy was evaluated for further management of icthyosis associated with neutral lipid storage disease (NLSD). He was born with a generalized ichthyosis, but whether he was a collodion baby or not is unknown. He was adopted at age 1 year when hepatosplenomegaly and developmental delay were evident. NLSD was diagnosed by peripheral smear and liver biopsy according to his foster parents. He later developed hearing loss, cataracts and amblyopia, and left ventricular hypertrophy. He additionally had short stature and attention deficit and hyperactivity disorder. Baseline lab abnormalities included elevated bile acids, liver transaminases, and CPK. Low dose isotretinoin was initiated 6 months ago with significant improvement of pruritus, scaling and self esteem. Lab studies on therapy revealed a doubling of his transaminases and an elevated creatine phosphokinase without symptoms. A decrease in his dose resulted in immediate worsening of his scaling but his lab studies improved to near baseline. With the last increase in his isotretinoin, his liver transaminases and CPK have remained elevated but stable. He skin has subsequently improved.
generalized erythema with fine scaling, angular chelitis, and hort stature