A male newborn with no obstetric or familial antecedents, except that his parents were cousins, developed hypotonia, lethargy, and feeding problems from birth. Analysis revealed a marked metabolic acidosis and hyperammonemia. Three weeks later, he was admitted to hospital in order to receive parenteral nutrition and to undertake a study for metabolic diseases.The boy did not improve in spite of the use of parenteral nutrition and began to present with inspiratory stridor and tachypnea. One week later, he presented with an erythematous scaling eruption, which was especially intense in the lumbosacral region (Figs 1a, b).The scalp was only slightly affected.Laboratory ®ndings were compatible with biotinidase de®ciency diagnosed by demonstrating absent enzyme activity. His parents were also studied and they were found to have partial biotinidase de®ciency (30% of enzyme activity).After 37 days of life, the baby was given a treatment consisting of 20 mg of biotin per day intravenously. Biochemical and neurologic alterations improved quickly.Meckel's diverticulum and a duodenal membrane were detected at the second month of life after a gastroduodenal survey, and both were operated on. The skin lesions did not improve, however, and intravenous biotin had to be increased to 40 mg/day. The eruption disappeared after 10 days.On his ®rst birthday, he remained asymptomatic with 40 mg of oral biotin. Schwarze et al. Microcystic adnexal carcinoma from radiation therapy Cameo ã A 32-year-old man presented with multiple subcutaneous swellings of 6 years' duration. A biopsy performed 6 years earlier, when the patient presented with papules and plaques, wasreported as tuberculoid Hansen's disease. The patient received dapsone, but showed no improvement. The disease was progressive. The patient currently has bilateral parotid enlargement (Fig. 1), enlarged submandibular, submental, and axillary lymph nodes, multiple subcutaneous swellings over the axillae and arms of cricket ball size, loose skin folds in the axillae (Fig. 2) and groin, and dry, scaly, and ichthyotic skin all over the body. Clinical differential diagnoses of mycosis fungoides and cutis laxa were made. The patient was discharged on request and then was lost to follow-up.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.