John A. McGrath

TL;DR: The data show that the cascade of l‐arginine metabolites is altered in HS‐RDEB and the findings may provide new insight into the pathology of chronic wounds in this genodermatosis.

TL;DR: This work investigated whether healthy human MSCs could be engineered to overexpress C7 and correct RDEB in a human:murine chimeric model, and suggested that while localised correction may be achievable using engineered M SCs, strategies for systemic administration require further modelling.

TL;DR: A child born with a fragile epidermis, alopecia, thick nails, and focal hyperkeratoses on the digits and knees was found to have a deficiency of desmoplakin caused by compound heterozygous DSP mutations.

TL;DR: Two boys with curly hair, palmoplantar keratoderma and skin fragility who presented clinical and histological features similar, but not identical, to those exhibited by patients with ectodermal dysplasia–skin fragility syndrome (McGrath syndrome) and other genetic desmosomal defects such as Carvajal syndrome and Naxos disease are described.

TL;DR: A multi‐generation family with prominent ichthyosis and palmoplantar involvement due to a novel mutation in loricrin is reported, which was present in affected individuals but was not in unaffected family members.