Conjunctival keratoacanthoma

An 83-year-old man presented with a 1-month history of a rapidly enlarging conjunctival mass. On examination, slit lamp biomicroscopy revealed a leukoplakic tumour at the temporal limbus. The lesion was excised with cryotherapy application to the limbus and conjunctival margins. Histopathology revealed a keratoacanthoma (KA). KA typically occurs on sun-exposed areas of the skin. Conjunctival KA is very rare, and differentiation between conventional squamous cell carcinoma (SCCA) and KA can be challenging. The present case highlights the indication for excisional surgery in patients with conjunctival KA using the no touch technique, cryotherapy, amniotic membrane and the histopathological differentiation between KA and SCCA

A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis

VPS45-associated severe congenital neutropenia (SCN) is a rare disorder characterized by life-threating infections, neutropenia, neutrophil and platelet dysfunction, poor response to filgrastim, and myelofibrosis with extramedullary hematopoiesis. We present a patient with SCN due to a homozygous c.1403C\u3eT (p.P468L) mutation in VPS45, critical regulator of SNARE-dependent membrane fusion. Structural modeling indicates that P468, like the T224 and E238 residues affected by previously reported mutations, cluster in a VPS45 hinge region, indicating its critical role in membrane fusion and VPS45-associated SCN. Bone marrow transplantation, complicated by early graft failure rescued with stem cell boost, led to resolution of the hematopoietic phenotype