Molecular characterization and assessment of therapeutic outcomes for inherited cutaneous disorders requires faithful preclinical models. In this study we report the establishment of two different skin-humanized pachyonychia congenita (PC) model systems, based on permanent engraftment of bioengineered skin equivalents generated from patient skin cells onto immunodeficient mice. Using keratinocy...

Palmoplantar keratoderma (PPK) are debilitating lesions that arise in individuals with pachyonychia congenita (PC) and feature upregulation of danger-associated molecular patterns and skin barrier regulators. The defining features of PC-associated PPK are reproduced in mice null for keratin 16 (Krt16), which is commonly mutated in PC patients. Here, we have shown that PPK onset is preceded by o...

congenital epulis is a very rare benign soft-tissue tumor of uncertain histogenesis, which is also known as “gingival granular cell tumor of the newborn”. it occurs almost exclusively as a single tumor along the alveolar ridge of the maxilla in newborn females. although congenital epulis is strikingly similar to the more common adult granular cell tumor histologically, in contrast to the latter...

Abstract Linked Article: Pavlovsky et al. Br J Dermatol 2022; 187:392–400

Pachyonychia congenita(PC) is a rare disorder that features palmoplantar keratoderma(PPK) as its most significant symptom. PPK are thick calluses arising in palmar and plantar skin painful to the point of debilitation PC related disorders. caused by dominantly-acting small mutations affect coding sequence KRT6A, KRT6B, KRT6C, KRT16 or KRT17. Unlike case for many other keratinopathies, cell frag...