Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene.

Plexiform neurofibromas occurring in approximately 20-50% of all neurofibromatosis type-1 (NF1) cases are histologically benign tumors, but they can be fatal due to compression of vital structures or transformation to malignant sarcomas or malignant peripheral nerve sheath tumors. All sizeable plexiform neurofibromas are thought to result from an early second mutation giving rise to a loss of heterozygosity of the gene. In this unusual case, a 12-year-old girl presented with a rapidly growing, extremely extensive plexiform neurofibroma with segmental distribution over the entire right arm, extending to the right chest wall and mediastinum, superimposed on classic cutaneous lesions of NF1.

The First Reported Case of Trichothiodystrophy in Hungary: A Young Male Patient with Mutations in the ERCC2 Gene.

Trichothiodystrophy, also called sulphur-deficient brittle hair syndrome, is a rare autosomal recessive genetic disorder of DNA repair and transcription. Trichothiodysthrophy is characterised by dry, thin, easily broken hair, showing alternating light and dark pattern called 'tiger tail' banding under polarizing light microscopy. According to our knowledge, our report is the first one on this rare disorder from Hungary: a case of a 9-year-old boy showing clinical features typical of trichotiodystrophy.

A randomized, controlled trial of oral propranolol in infantile hemangioma.

Background: Oral propranolol has been used to treat complicated infantile hemangiomas, although data from randomized, controlled trials to inform its use are limited.

Methods: We performed a multicenter, randomized, double-blind, adaptive, phase 2-3 trial assessing the efficacy and safety of a pediatric-specific oral propranolol solution in infants 1 to 5 months of age with proliferating infantile hemangioma requiring systemic therapy. Infants were randomly assigned to receive placebo or one of four propranolol regimens (1 or 3 mg of propranolol base per kilogram of body weight per day for 3 or 6 months).