XERODERMA PIGMENTOSUM ----------------------------------------------------- My name is Rod Smith and I live near the capital city of Tegucigalpa, Honduras, Central America. One of our works here is assisting children to obtain medical aid that cannot be found in this country. Presently we have an applicant, a young man of 12 years old, that is suffering from Xeroderm Pigmentousm. We are having difficulty finding anyone who knows how to treat this disease. Perhaps you could give me some resourses. We have also had two other patients with the same disease. Thanks for your time and I look forward to a response. Sincerely, Rod Smith ---------- Your message about xeroderma pigmentosum in Honduras was forwarded to me. We have been studying patients with this disease for a number of years. We have literature concerning treatment of XP and scientific studies of DNA repair. In addition, we recently have put together an updated booklet explaining XP in layperson terms (for patients and their families and others that they come in contact with such as teachers). I will be happy to mail you this literature if you contact me directly. A new patient support group has been formed, the XP Society. They have a web site: http://csbh.mhv.net/~pmannix/xps.html and also can be reached by e-mail: JCQC92A@prodigy.com Kenneth H. Kraemer, M.D. Laboratory of Molecular Carcinogenesis National Cancer Institute ------------------------- I would like to submit a case for discussion 7 y/o and 3 y/o siblings of non consanguinous marriage presented with freckling of sun exposed areas, photophobia,multiple conjunctival mass, multiple hyperpigmented plaques on the face and multiple fleshy tumor on the scalp.Excision of all tumorous growth were done revealing basal cell carcinoma ,squamous cell carcinoma and carcinoma in situ on both eyes with good cosmetic results.Diagnosis of our service is Xeroderma Pigmentosum with multiple Oculocutaneous Malignancies.This is the first reported case of the disease in the Philippines. The Section of Dermatology of East Avenue Medical Center would like to know about the different experiences of Dermatologists worlwide regarding Xeroderma Pigmentosum. Question we would like to ask are the ff: 1.Other therapeutic options aside from surgical excision. 2.Is there a role for radiotherpy in XP? 3. Where can we possibly do genetic studies for the patient ( patient is an indigent) Francisco C Rivera IV, MD. -------------------------- First- to your second question. There is NO role for radiotherapy in XP. Second- chemoprophylaxis with retinoids has been demonstrated to be usefull. Start with 1 mg per kg per day of 13-cis RA. Some require up to 2 mg, others can be tapered to 0.5. This should be continued, basically for life. This combined with *total* sun avoidance is the mainstay of therapy. 5-FU might help with further control of existing AKs. Surgical excision is generally best for current lesions, and any documented invasive Cancer that occurs. If surgery is not an option, IL chemo (eg IFN alpha) might be tried, but I would try to stay with excision when possible. A protocol with topical viral replacement enzymes might be open, and that could also be an option. D Yarosh is a company contact. Third- Genetic studies are available through Alan Busch MD PhD at the AFIP (Armed forces Institute of Pathology). Jim Cleaver at UCSF used to do studies, but I believe he has stopped since the AFIP started. References and contacts: Prevention of skin cancer in XP with oral isotretinoin. Kraemer et al, New Engl J Med 318: 1633-7, June 1988. Encapsulation of the UV-DNA Repair enzyme T4... Ceccoli et al, J Invest Derm 93:190-194, 1989 (there was another artical last year but I don't have the reference off hand) David Busch Dept of Environ and Tox Pathology AFIP 14th St NW and Alaska Ave Washington DC 20306-6000 202 576-0222 phone 202 576-2164 fax Jim Cleaver 415 476-4563 Ken Kraemer Kraemer@helix.nih.gov 301 496-9033 Dan Yarosh (re T4N5) Applied genetics inc 205 Buffalo ave Freeport NY 11520 Registry: XP Registry c/0 dept of pathology, Rm C520 Medical Science Bldg UMDNJ-New Jersey Medical School 100 Bergen St., Newark New Jersey 07103 201-456-5722 Support: Mr. and Mrs James Harrison Box 431 Yuba City CA 95992 916 696-0328 Good luck. These patients are challenging to manage. Undoubtably J. DiGiovanna and K Kraemer at the NIH have the most clinical experience, and I would recommend you talk to them. Laurence J. Meyer, MD, PhD Departments of Medicine and Pediatrics Divisions of Dermatology and Genetics, Univ of Utah ---------------------------------------------------- There are several interesting therapeutic possibilites, besides surgery and/or radiation: 1) intralesional interferon - has about an 80% cure rate in small basal cell ca's and has the advantage of not being scarring, though it is expensive and must be given three times a week for 3 weeks 2) oral retinoids will probably shrink many tumors but must be continued 3) a combination of topical 5 fluorouracil and retin a will destroy many many microscopic skin cancers but will not be useful for the macroscopic ones 4) removal of skin, by a dermatome, is also useful (article by irv.epstein jr many years ago) I would probably consider chemotherapy with oral retinoids first, then surgery on remaining lesions, followed either by topical retin a with efudex or dermatomal surgery Steve Emmet ----------- ------- 4.24.96