pemphigus, pustular psoriasis, epidermolysis bullosa hereditaria, congenital ichthyosiform erythroderma, neurofibromatosis(type1,2), xeroderma pigmentosum, tuberous sclerosis
Conditions
Interventions
None listed
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: The inclusion criteria for the patients are 1) Patient (male and female) under the age of 75 years at the time of obtaining informed consent 2) Patients who meet any of the following three diagnostic criteria (1) Diagnostic criteria proposed by a research group of the intractable rare skin diseases (2) Diagnostic criteria proposed by a research group of the neurocutaneous syndrome (3) Diagnostic guidelines proposed by the Japanese Dermatological Association 3) Patient receives an adequate explanation prior to participation in this study and voluntarily gives informed consent: if the patient age is under the age of 20 years, informed consent is obtained from the patient's parents or a legal representative 4) Hospital outpatient and inpatient
Exclusion criteria
Exclusion criteria: Patients who fall under the following are not included in this study: 1) 75 years of age or more at diagnosis 2) Patients who do not have health insurance 3) HBs antigen-positive 4) Patients with unstable angina 5) Patients with severe liver damage (AST(GOT) or ALT(GPT) > 100 IU/L) 6) Patients with severe renal damage (serum creatinine > 2.0 mg/dL or BUN > 25 mg/dL) 7) Patients who are pregnant or have a possibility of pregnancy 8) Lactating women 9) Others deemed inappropriate as subjects for the research by the doctor conducting the research 10) Neurofibromatosis (1) patients with only cafe au lait spots
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| This study is intended to produce a framework for centralized projects involving a Research Resources Bank for intractable diseases for the long-term that will be effectively used for research studies on incurable skin diseases using samples donated by patients. | — |
Countries
Japan
Contacts
Yamaguchi university graduate school of medicine, department of dermatology dermatology