Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.

Background: Pachyonychia congenita (PC) is a rare inherited disorder of keratinization characterised by hypertrophic nail dystrophy, painful palmoplantar blisters, cysts, follicular hyperkeratosis and oral leukokeratosis. It is associated with mutations in five differentiation-specific keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17.

Objectives: Living with Pachyonychia Congenita can be isolating.

Case report: Cavitation of mesenteric lymph nodes as the presenting feature of coeliac disease.

Cystic cavitation of the lymph nodes associated with hyposplenism is a rare and under-recognised complication of coeliac disease. This report encompasses the clinical, radiological and pathological features of this condition, while demonstrating the pivotal role radiological imaging plays in achieving a clinical diagnosis.