SKIN CANCER
Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum
This study will determine if family members of patients with xeroderma pigmentosum (XP) have various abnormalities including:
skin abnormalities; nervous system abnormalities, such as hearing problems; skin, eye, or internal cancers; or other changes. XP is a rare inherited disease that involves an inability to repair damage to cell DNA (genetic material). It can affect several organ systems, including the skin, eye, nervous system, and bones. Patients have a more than thousand-fold increase in frequency in all major skin cancers.
Parents of patients with XP are carriers of the abnormal XP gene. Other family members may also be carriers of the abnormal XP gene. Carriers do not develop the disease themselves;
symptoms develop only in children who have inherited the faulty gene from both parents. This study will try to clarify the genetic basis for XP and to understand the increased frequency
of cancer in the disease.
Both XP patients who have been evaluated at the National Institutes
of Health Clinical Center and their relatives are eligible for this study. Newly diagnosed XP patients are also eligible. Spouses of relatives will also be included as control subjects.
VITILIGO
Open-label Pilot Study of Abatacept for the Treatment of Vitiligo
Vitiligo is a chronic autoimmune disease with evidence of CTLA-4 involvement. This pilot study of the treatment of new onset or actively progressing vitiligo with abatacept is to determine if weekly self-injections of medication lead to clinical improvement in vitiligo lesions.
Abatacept has been shown to decrease T-cell activity and reduce symptoms associated with rheumatoid arthritis. Similar pathways
have been shown to be involved in vitiligo. Therefore, 10 adult patients with active vitiligo who meet specific inclusion and exclusion criteria will be recruited to receive self-administered injections of abatacept weekly, starting at week 0 and continuing until week 24. A week 32 follow-up visit will also be performed to evaluate secondary endpoints. Patients will be monitored to see if skin lesions of vitiligo stop spreading and start to repigment with continued treatment.
PROTOPORPHYRIAS
Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
The initial objective of this protocol is to assemble a well-documented group of patients with confirmed diagnoses of the erythropoietic protoporphyrias for clinical, biochemical,
and genetic studies. The long-term objectives are (1) to conduct a longitudinal investigation of the natural history, complications, and therapeutic outcomes in people with erythropoietic
protoporphyria; (2) to systematically investigate the psychological effects of the erythropoietic protoporphyrias on children and adults; and (3) to investigate the correlation between the identified genotypes and the resulting clinical presentation,
also determining the possible interaction of other genetic markers.
The porphyrias are a group of rare metabolic diseases that may present in childhood or adult life and are due to deficiencies of enzymes in the heme biosynthetic pathway. The most common manifestations are related to accumulation of intermediates in the pathway and usually occur as acute neurological attacks (as in the acute or hepatic porphyrias), or cutaneous photosensitivity
(as in the cutaneous porphyrias, including the erythropoietic protoporphyrias).
The risk of disability or death from these disorders is significant,
in part because diagnosis is often delayed due to lack of
