Topical Sirolimus in Patients With Basal Cell Nevus Syndrome and in Healthy Participants

Inclusion criteria

DISEASE CHARACTERISTICS: * Patient * Confirmed diagnosis of basal cell nevus syndrome (BCNS) * Known patched (PTCH) gene mutation * Must have full sequence of coding exons with intron/exon junctions in the PTCH gene OR prior genetic testing confirming PTCH mutation by the Yale University DNA Diagnostics Laboratory * Age- and sex-matched healthy participant (control) * Unaffected relative of patient OR normal healthy volunteer with no family history of BCNS or features of BCNS * No unrelated healthy participant meeting any of the following clinical criteria for BCNS: * Lamellar calcification of the falx cerebri * Prior odontogenic keratocyst or any jaw cyst for which a histopathologic diagnosis cannot be ascertained * Palmar or plantar pits typical of BCNS * More than 3 basal cell carcinomas (BCC) in a lifetime or 1 BCC under the age of 30 * History of medulloblastoma * No unrelated healthy participant with 2 or more of the following features: * History of ovarian or cardiac fibroma * Mesenteric or pleural cysts * Polydactyly * Macrocephaly determined after adjustment for height * Craniofacial features of BCNS, including cleft palate, frontal bossing, hypertelorism, iris coloboma or other developmental defects of the eye, or coarse facies * Vertebral anomalies, including spina bifida occulta outside the lumbar region * Bifid or splayed ribs * Other radiographic findings, including bridging of the sella turcica, nonlamellar calcification of the falx cerebri, or flame-shaped lucencies in the phalanges = 1-3 BCCs over the age of 30 PATIENT CHARACTERISTICS: * WBC ≥ 4,000/mm³ * Neutrophil count ≥ 2,000/mm³ * Platelet count ≥ 150,000/mm³ * Hemoglobin ≥ 11.5 g/dL * Bilirubin 0.3-1.0 mg/dL * AST 17-59 U/L * PTT 10-13 seconds OR INR 1.0-1.4 * Creatinine clearance \> 50 mL/min * Cholesterol \< 350 mg/dL * Triglycerides \< 400 mg/dL * Not pregnant or nursing * Negative pregnancy test * Fertile participants must use effective contraception for ≥ 1 month before, during, and for ≥ 12 weeks after study treatment * No active infection * No alcohol or drug abuse * No psychiatric disorder or mental deficiency that would preclude study compliance * No uncontrolled hypertension (i.e., blood pressure \> 140/90 mm Hg on \> 2 measurements) * No chronic active infection requiring treatment * No untreated reactive purified protein derivative of tuberculin (PPD) * No HIV-1 infection * No infection requiring antibiotics within the past 30 days * No other skin disease affecting broad areas of the body, including the region to be treated and biopsied * No known hepatitis B or C infection (detectable RNA off antiviral therapy) * No immune deficiency disorder * No known hypersensitivity to sirolimus or macrolide antibiotics (e.g., erythromycin, azithromycin, or clarithromycin) * No cancer within the past 5 years except basal cell skin cancer PRIOR CONCURRENT THERAPY: * At least 1 month since prior investigational drugs * No concurrent dietary supplements, including Hypericum perforatum (St. John's wort) or megadose vitamins * No other concurrent immunosuppressive medications, including corticosteroids * No concurrent medications known to interfere with sirolimus metabolism * No concurrent anticoagulants * No concurrent acetylsalicyclic acid or other drugs affecting platelet function or number * No routine (i.e., \> 2 doses/week) use of nonsteroidal anti-inflammatory drugs * No drugs or substances that would effect sirolimus blood concentrations, including any of the following: * Nicardipine * Verapamil * Clotrimazole * Fluconazole * Itraconazole * Troleandomycin * Cisapride * Metoclopramide * Clarithromycin * Erythromycin * Bromocriptine * Cimetidine * Danazol * HIV-protease inhibitors (e.g., ritonavir or indinavir) * Phenobarbital * Carbamazepine * Phenytoin * Rifabutin * Rifapentine * Grapefruit juice * Vaccinations (especially live vaccines)