Ichthyosiform changes in a patient with RAC1 mutation.

RAS-related C3 Botulinum Toxin Substrate 1 (RAC1) is a Rho GTPase that modulates numerous cellular functions including transcriptional regulation and actin-based structure turnover. Reported de novo RAC1 mutations are rare but generally manifest in developmental delay and brain malformations. In Rac1 knockout mice, a hairless phenotype has been observed, but little is known of other cutaneous phenotypes of RAC1 mutations.

Kawasaki's disease and onychomadesis in a 17-month-old girl with non-SARS-CoV2 coronavirus.

Kawasaki disease is a vasculitis of medium-sized vessels and the most common cause of acquired heart defects in the United States. Although its etiology is unclear, an infectious trigger has been theorized, which has been highlighted by the recent pandemic. We present a case of a 17-month-old-girl with concurrent Kawasaki disease and non-SARS-CoV2 coronavirus infection and a sequela of onychomadesis.

A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia.

Pure hair and nail ectodermal dysplasia (PHNED) is a rare disorder that presents with hypotrichosis and nail dystrophy while sparing other ectodermal structures such as teeth and sweat glands. We describe a homozygous novel missense mutation in the HOXC13 gene that resulted in autosomal recessive PHNED in a Hispanic child. The mutation c.