Recently, the importance of hereditary diseases in clinical medicine has become more recognized. The reasons for this current tendency may include conditions such as the lesser number of children in a family, decrease in mortality rate due to infectious diseases in the newborn period, and recent advances of molecular biology, which allows us to deal with genetic problems. Gene therapy is not longer a dream for the treatment of genetic diseases. A few diseases are already being treated with gene therapy. However, these technical advances are applied to only a limited area of genetic medicine, which includes not only serious heritable diseases but also mild ones that are treatable with conventional therapies. Misinformation about genetic medicine propagated by the mass media easily misleads the people who have problems with genetic diseases. Thus, technical advances in basic medicine without a consensus of an acceptable philosophy has brought confusion in to the clinical fields of genetic medicine. Genetic counseling can bridge the world of advanced basic medicine and the present status of clinical medicine. Genetic counseling is a process of dialogue between a genetic counselor, who is a specialist in medical genetics, and a counselee, who has a problem with a genetic disease in his family member or himself. Genetic counseling can give evidence-based information on the mechanism and social backgrounds of an inherited disease. Not only does it give reasonable information, genetic counseling can also psychologically support those people who are facing genetic problems and help their autonomous decisions about the options for an appropriate future for the next generation.
An epidemic study of 700 cases with tick bites at the Department of Dermatology, Asahikawa Medical College and affiliated hospitals, was performed during 1995—2000. Culture of Borrelia burgdorferi was performed in 522 patients with tick bites. Skin biopsies from tick bite sites were cultured in BSKII medium at 31°C. The causative ticks were identified and the midgut tissues of these ticks were cultured separately in BSKII medium. A total of 303 adult ticks (81.6%) were identified as Ixodes persulcatus (IP) from 366 ticks obtained. The rate of IP infected with Borrelia in Hokkaido prefecture was 12.2%. The rate of Lyme disease was 8.0% among 700 cases with tick bites and was higher in the group of patients who visited the hospitals after removval of the ticks by the patients. On the other hand, 33 infective ticks which were removed by surgical procedure did not transmit Borrelia. Our results suggest that prophylactic antibiotic treatment and/or surgical removal of ticks should be performed in endemic areas of Lyme disease in Japan such as in Hokkaido prefecture.
We investigated the skin condition and the quality of life in patients who had stopped using topical steroid. We surveyed 80 atopic dermatitis patients (32 males and 48 females) who had been admitted to our hospital between 1995 and 2000 due to deterioration after discontinuing topical steroid therapy. These patients were between 6 months and 44 years old (average 20.0 years old) when they were hospitalized. The duration of hospitalization ranged from 4 days to 46 days (16.6 days). Inadequate therapies without topical steroid application were prescribed by 9 dermatologists, 43 doctors who were not dermatologists, 15 commercial corporations, and 13 patients who used over-the-counter products. After discharge, the severity of itching and the ability to concentrate on their job or study were improved, and the cost and time spent on their treatment were reduced. In addition, they were satisfied with the treatment using topical steroid and tacrolimus. These results suggest that all patients with atopic dermatitis can maintain better conditions using treatments based on “The Guidelines for Therapy for Atopic Dermatitis” established by the Japanese Dermatological Association.
Seven patients with diffuse cutaneous systemic sclerosis (dSSc) manifesting rapidly progressing skin sclerosis were treated with initial oral prednisolone of 20-30 mg/day for longer than 20 weeks. The dose of prednisolone was gradually decreased, and afterwards 5-10 mg/day was maintained. Four of these patients with severe skin sclerosis additionally received 200-300 mg/day d-penicillamine. Three patients with limited cutaneous SSc exhibiting mainly scleredema of the hands and forearms also took oral prednisolone. All patients but one with dSSc had disease durations of less than two years. All patients demonstrated marked improvement of skin sclerosis within 4-20 weeks and showed no relapse. In addition, two patients with longer disease duration and stable skin condition were treated with initial doses of 20 or 40 mg/day prednisolone because of mononeuritis and interstitial pneumonia, respectively, and exhibited improved skin sclerosis. Furthermore, one patient given 1,000 mg/day methylprednisolone intravenously for two days due to toxic epidermal necrolysis (TEN) presented significant improvement in skin sclerosis. Adverse reactions to corticosteroid included steroid diabetes and osteonecrosis of the femoral head in one patient each and that to d-penicillamine included TEN in one patient. Low- or moderate-dose oral prednisolone seems to be effective for skin sclerosis of SSc, especially of early SSc.
Eight patients with neonatal lupus erythematosus (NLE) who were treated at the Department of Dermatology, Kitasato University School of Medicine, during the past 20 years were studied. In addition, two typical cases were presented. The study focused on the sex bias, changes in skin lesions, the presence (or absence) of liver dysfunction or cardiac disease, frequency of detection of various autoantibodies, long-term follow-up, and clinical entities and status of diseases from which the mothers suffered. The male vs. female ratio among these patients was 1 : 7, indicating an evident female bias. Skin eruptions became evident at one month after birth and tended to become extinct by approximately six months. None of the patients suffered from cardiac complications. Liver dysfunctions were encountered by four, but all recovered after clinical observations of a certain period. Six mothers suffered from Sjogren’s syndrome also, while one had both this syndrome and rheumatoid arthritis. The oldest among the children under observation is currently 14 years of age. None have developed evident autoimmune disease. However, three continue to exhibit positive reactions to anti-nuclear antibodies and two reverted to a positive status at around three years of age after a temporary loss of the antibodies. This finding indicates that, in managing a patient with NLE, observation must be continued over a long time.
We have treated 20 pemphigus foliaceus (PF) patients in the past five years ; we used DDS (diaphenylsulfone, dapsone) in 18 cases. Fourteen PF cases were considered to respond well to DDS therapy, but the other four did not. Five cases were controlled only by DDS, and nine cases could be treated by a low dosage of oral steroid in addition to DDS. No severe side effects of DDS were observed. About half of the cases showed a mild anemia, which was normalized without cessation of DDS. This study indicated that DDS can be a very useful treatment for PF patients.
In vivo confocal microscopy is a non-invasive technique for imaging thin sections of living skin. Tissue can be imaged with cellular-level resolution and contrast without excising, fixing, or staining thin sections. In this study, we examined the morphologic features of normal human skin by means of in vivo confocal microscopy. We imaged three anatomical sites (lower outer arm, upper inner arm, and cheek) of 14 healthy Japanese women with a confocal microscope (Vivascope 1000, Lucid, Inc.). Morphologic measurements from the confocal images showed that the details of the structure of the epidermis and dermis, such as thickness of epidermis and the density of dermal papillae, differed at each anatomical site. In the lower outer arm, dermal papillae were relatively small and densely distributed, while the dermo-epidermal junction in the upper inner arm sloped quite gently. On the other hand, in the cheek, the dermo-epidermal junction was almost flat ; only small dermal papillae existed very sparsely. These results suggest that some factor other than a proliferative condition influences the morphology of the human skin.