UOSD PORPHYRIA AND RARE DISEASES
Head: Dr. Marco Ardigò, MD, PhD
The mission of the Unit is focused on diagnosis, clinical management, therapy and follow-up of patients affected by Rare Diseases involving both metabolism as well as the skin with devotion to specific Methabolic and Dermatologic conditons: Porphyria, Hemochromatosis, Bullous Diseases as pemphigus and pemphigoid and other skin diseases of autoimmune derivarion.
Moreover, the Unit take care of patients affected by cutanous B and T cell lymphomas and contribute to the management of Heamtology patients under treatement and follow-up at the Hematology Unit of Regina Elena National Cancer Center. Patients with acute and chronic scalp diseases are managed at outpatient service and supported by on invasvie diagnositc techniques.
Advanced technologies for skin microscopic analysis as Reflectance confocal microscopy and Optical Cohoerence Tomography are used for diagnopsis and follow-up of Dermatology patients and support onchodermatology diseaes managment by other San Gallicano Units.
Translational reserch activity is performed on the same fields of the clinical activity with the focus on the diseases managed at the Unit. All the component of the staff play a specific role in the desing and dvelopement of the research study with different roles accordingly to the specific expertise of the professional.
Clinical research studies, new therapies assessements and protocols as well as in vivo microscopic and molecular research studies are desinged and perfomred at the Unit in collaboration with the other IFO unit and national and international centers.
Clinical trials on porphyrias, cutaneous lymphomas and non invasive diagnostic skin techniqes are currenlty active at the centes.
Around 10 to 15 papers are published per year by the research group on international indexed journals. Active partecipation to research boards and national and international meetings are regularly do by the research staff in order to maintain a regular and up dated improvement of the diagnostic and therapeutical knowledge on the diseaes managed and studied at the Porphyria and Rare Diseases Unit.