CASE REPORT: NODULAR DERMATOFIBROSIS AND CYSTICRENAL DISEASE IN A BEAGLE WITHOUT FLCN MUTATION

B. RIVERA*, V. BALAZS*, C. TORO†, S. STUBBS‡

*Oftaderm, Clínica especializada en Oftalmología y

Dermatología Veterinaria, Santiago, Chile

†Department of Veterinary Medicine, University of Cambridge

‡ London School of Hygiene and Tropical Diseases

Nodular dermatofibrosis (ND) is a rare syndrome characterized by the presence of multiple dermal and subcutaneous nodules affecting the legs, head and ears. ND is also associated with polycystic kidneys, renal cystadenomas or cystadenocarcinomas, and less commonly with uterine tumours. This condition has been linked to an autosomal dominant mode of inherence and mutations of the gene encoding folliculin (FLCN).

An 8–year-old intact male beagle dog presented with well circumscribed skin nodules localized to the extremities, head and pinna.

Abdominal ultrasound showed bilateral cortical renal cysts suggesting a degenerative/ neo-proliferative inflammatory process.

The Polymerase Chain Reaction (PCR) blood test didnot reveal germline mutations in the FLCN gene.

The fact that FLCN mutations were not detected suggests that alterations in different genes may be involved in this particular form of ND. Future studies are still required to determine the etiology of this FLCN-independent non-malignant ND, now described in beagles.

Descargar Poster