Dermatologists actions for health care On a therapeutical level: Creation of networks: National registries Collaboration with research and genetics laboratories Assistance On a social level in Italy
National Registries Gianluca Tadini Centro Malatie Cutanee Ereditarie Istituto di Scienze Dermatologiche Università di Milano Update of the national registry on hereditary epidermolysis bullosa National registry of ectodermal dysplasia
Italian registries Epidermolysis Bullosa 1991-2002: 706 2003-2007: 116 2008- April 2009: 58 Total: 880 Ectodermal Dysplasia: 152 40% confirmed by molecular diagnosis
Italian registry 1991-2009 (880 patients) Dr. Gianluca Tadini Type Frequency % Epidermolytic EB 258 29.3 Junctional EB 82 9.3 Dermolytic EB 524 59.5 Unlisted EB 16 No percentage
Kleijer WJ, Laugel V, Berneburg M, Nardo T., Fawcett H, Gratchev A, Jaspers NGJ, Sarasin A, Stefanini M, Lehmann AR (2008) DNA Repair, 7: 744-750. Incidence of DNA repair deficiency disorders in Western-Europe: Xeroderma pigmentosum, Cockayne syndrome and Trichothiodystrophy Incidence in Western Europe was for the first time established at 2.3 per million live-births for XP
Distribution in time of xeroderma pigmentosum patients living and diagnosed in Italy Years of birth Total Number of patients Autochthonic Non-autochthonic <1940 3 3-1940-59 7 7-1960-69 7 7-1970-79 9 8 1 1980-89 12 11 1 1990-99 6 5 1 2000-05 1-1 45 41 4
Xeroderma pigmentosum: frequency of the NER defective complementation groups Group XP-A XP-B XP-C XP-D XP-E XP-F XP-G XP-variant Italy* 17% - 43% 10% 27% 3% - 14.6% West-Europe** 15.7% - 60.7% 11.2% 2.2% 4.5% 5.6% 10.6% * 30 cases ** 89 cases, including the Italian patients
Assistance, diagnosis and research network Active and close collaboration since 2000 and a convention in 2004 with the Istituto Dermopatico dell Immacolata (IDI) of Rome to provide a global assistance to patients without having them to move from a Centre to another Convention in July 2008 with the University of Modena to practice the gene therapy at Bambino Gesù Hospital Convention with DebRA Italia in 2004
Multidisciplinary Assistance Ospedale Pediatrico Bambino Gesù Multidisciplinary care of Ichtyosis, Epidermolysis Bullosa, NF and ST children Case-manager
NF multidisciplinary assistance Case-manager: Cristina Digilio Genetics department Pediatric Hospital Bambino Gesù, Rome 20 patients/month
NF 1 protocole Involved specialists Dermatologist (A) Ophtalmologist (A) Neurologist (A) Psychologist (A) Neurosurgeon Surgeon Plastic surgeon Orthopaedic (A) ORL (A) Endocrinologist Cardiologist (A)
NF 1 protocole Other parameters Abdominal ultrasound Blood and urine test Urinary Vanillyl Mandelic Acide Measure of blood pressure
Inherited Epidermolysis Bullosa Multidisciplinary/therapeutical care: Ospedale Pediatrico Bambino Gesù, Rome Case-manager: dermatologist
Multidisciplinary care Neonatal period Later organs complications: Infection Nutrition Oesophagus stenosis Dentition Anaesthesia Organ surgery: pylorus stenosis, hands, etc
EB patients followed in dermatology Day hospital 2007 2008 2009 4 11 12
Hospitalized EB patients in 2008 Intensive care 3 Dermatology 19 Paediatrics 4 Digestive surgery 8 Digestive surgery 2 General surgery 1 Infectiuos diseases 5 Neurology 1 Genetics 1 Plastic surgery 1 Total 9 Total 36
Hospitalization of EBE patients at the OPBG 362 admissions 154 Day hospital 208 hospitalizations Reasons For main diagnosis and disease treatment For a second diagnosis Involved departments: 15 elachem@opbg.net
Inherited Epidermolysis Bullosa Training of specialists Ospedale Pediatrico Bambino Gesù, Rome Continuous collaboration between dermatologists and other specialists to illustrate on the job the specificity of these diseases and avoid the side complications: Team work
Formation
Social Activities The organisation s efficient support to the patients: Communication of the diagnosis Organisation of consultation Participation to the elaboration of specific guidelines Appeal to public authorities to improve assistance Awareness-raising in schools Holidays organisation
Activities Member of the Council of the Italian Federation of Rare Diseases UNIAMO Member of EURORDIS Board Projects in progress: At the Hospital with Ebby (Bambino Gesù) At the laboratory with Ebby (Università di Modena)
Convention between DebRA and the Paediatric Hospital Bambino Gesù, signed in July 2008 Project: In ospedale con Ebby Start: May 2009: Identification of the bedroom Identification of the bathtub Expected end of work: December 2009
Inherited Epidermolysis Bullosa Equipement (in progress) of a bedroom dedicated to hospitalized or in day hospital patients Ospedale Pediatrico Bambino Gesù, Rome
At the hospital with Ebby At the laboratory with Ebby: donation of 200.000 euros
Gift from Myriam, a really brave girl, affected by a severe dystrophic EB, who has never given up on her hobby: painting! Nor on joy of life! Thank you Myriam