Thelansis

 Bachmann–Bupp syndrome (BABS) is an autosomal dominant genetic disorder caused by heterozygous de novo gain-of function pathogenic variants in the ornithine decarboxylase 1 (ODC1) gene located on chromosome 2p25.1. These variants result in increased polyamines, causing abnormalities of functions such as angiogenesis, carcinogenesis, and embryogenesis. Currently, there are nine humans reported having ODC1 pathogenic variants. Features which are shared amongst these individuals include polyhydramnios, broad forehead/macrocephaly, neuroimaging abnormalities with no particular pattern, global developmental delay, cryptorchidism in male patients, and muscular hypotonia. The patient presented at 11 months of age with near-total alopecia of the scalp, eyebrows, eyelashes and curved, brittle fingernails. Around age one year, she started developing pustules and cysts on the posterior scalp and back. Five larger lesions became erythematous and tender, resulting in rupture and ultimately req...