October 2022 — Vol 142 No 10

Molecular mechanisms underlying NLRP1 activation

Clinically, PPKCA2 patient 1 had total loss of scalp hair, eyebrows, and eyelashes (top-left) together with palmar and plantar keratoderma affecting the lateral aspects of the palms and soles (top-middle panels), accompanied by sclerodactyly, finger contractures, and constrictions. PPKCA2 patient 2 had sparse and thin hair (top-right) together with palmar and plantar keratoderma, sclerodactyly, finger contractures, and constrictions (bottomleft and middle panels). Histology of lesional skin of patient 1 shows acanthosis and a massively thickened stratum corneum (bottom-right). Yang et al. (page 2687) identified biallelic variants in the Lanosterol Synthase gene in both patients.

Advertisement