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[Teledermatological consultation].

Teledermatological consultation can be effected in two ways. One is 'store-and-forward' which involves storing photographic digital images and sending them to a consultant dermatologist who then replies by e-mail, and the other is by videoconferencing using a real time interactive audiovisual link. In daily general practice the first method is the easiest to implement. In 76-90% of cases, a diagnosis or differential diagnosis made in this way corresponds with the diagnosis made at the more usual face-to-face examination. The advantage of teledermatological consultation is that diagnosis and therapy take place faster than after regular referral and it is better than no referral at all. The referring physician should deliver data on the patient's history and physical examination in a standardized format. The same is true for the encoded personal data, the working diagnosis, and referral request. One overview and 2 detailed photos from two angles are normally taken. The overview shows the extent and localization of the skin abnormality. The patient has to consent to a teledermatological consultation. The responsibility for the treatment lies with the doctor who sees the patient face-to-face. The data that is transmitted must be encrypted or coded in such a way that it cannot be traced back to one particular person.

Adult↗

Nicolau's syndrome after local glucocorticoid injection.

We report three cases of Nicolau's syndrome induced by intraarticular glucocorticoid injections. Nicolau's syndrome is defined as livedo-like dermatitis secondary to acute arterial thrombosis occurring immediately after intravascular injection of an insoluble drug substance. The cases described by Nicolau occurred in association with injections of oily bismuth suspensions. In 1970s and 1980s, cases occurred with delayed-action penicillin suspensions injected intramuscularly. Typically, the injection is followed immediately by excruciating pain in the buttock, sometimes with syncope. Cyanotic patches and a livedoid pattern develop. Rapid resolution of the pain and slower clearing of the skin changes occur in most patients. We report three typical cases with both severe pain and skin changes. In addition, two other patients had incomplete variants without skin abnormalities. Each of these five patients had received an injection in or about a joint of a glucocorticoid in a crystalline suspension. The pathophysiology of this syndrome probably involves acute vascular spasm related to penetration of microcrystals into a blood vessel.

Adult↗

Common epidermal lesions of the bowhead whale, Balaena mysticetus.

Samples of common skin abnormalities from 23 subsistence-harvested bowhead whales (Balaena mysticetus) were examined. Most lesions fell into three broad classes: shallow lacerations, circular depressions, and epidermal sloughing. Both circular depression lesions and epidermal sloughing lesions may be divided into more than one subgroup based on morphological criteria. Examination of each of the subgroups using light and scanning electron microscopy suggests relationships among the subgroups of a class. These proposed relationships are discussed, as are some possible etiologies. Scanning electron microscopy reveals abundant bacteria and diatoms present in association with each lesion class but no evidence of a particular association characteristic of a lesion class. The microflora were especially abundant wherever the stratum spinosum was exposed at the skin surface.

Animals↗

Regulated splicing of the fibronectin EDA exon is essential for proper skin wound healing and normal lifespan.

Fibronectins (FNs) are multifunctional high molecular weight glycoproteins present in the blood plasma and in the ECMs of tissues. The FN primary transcript undergoes alternative splicing in three regions generating up to 20 main different variants in humans. However, the precise role of the FN isoforms is poorly understood. One of the alternatively spliced exons is the extra domain A (EDA) or extra type III homology that is regulated spatially and temporally during development and aging. To study its in vivo function, we generated mice devoid of EDA exon-regulated splicing. Constitutive exon inclusion was obtained by optimizing the splice sites, whereas complete exclusion was obtained after in vivo CRE-loxP-mediated deletion of the exon. Homozygous mouse strains with complete exclusion or inclusion of the EDA exon were viable and developed normally, indicating that the alternative splicing at the EDA exon is not necessary during embryonic development. Conversely, mice without the EDA exon in the FN protein displayed abnormal skin wound healing, whereas mice having constitutive inclusion of the EDA exon showed a major decrease in the FN levels in all tissues. Moreover, both mutant mouse strains have a significantly shorter lifespan than the control mice, suggesting that EDA splicing regulation is necessary for efficient long-term maintenance of biological functions.

Aging↗

Studies on "Repeated Epilation" mouse mutant embryos: II. Development of limb, tail, and skin defects.

The present paper reports the development of limbs, tail, and skin abnormalities in homozygous Repeated Epilation (Er/Er) mouse embryos. Defects can first be observed on day 13 and become fully expressed at 18-19 days of gestation (vaginal plug = day 1 of gestation). In 13-day-old embryos, the apical ectodermal ridge and some areas of the limb epidermis are unusually thickened. A similar hyperplasia affects the tail tip and the flank epidermis. Limb defects are located in the autopod. Both pairs of footplates are shortened and deformed; no separation occurs between the digits. Only the phalanges are involved; they may be joined together either by soft tissues or by cartilage. Hypophalangy affects the most distal phalanges. Nails are missing or poorly developed. At stage 13, the tail tip is bent over the dorsal side and becomes twisted; at later stages, the tail appears shortened. From the 14-day stage onwards, there is a progressive fusion between the limb, the body, and/or the tail epidermis. The embryological analysis of the abnormalities indicates that the thickened and rigid epidermis impedes the normal growth of the limb buds and of the tail. Our observations suggest that limb and tail defects observed in mice homozygous for the Repeated Epilation mutation may be secondary to primary changes occurring in the epidermis. Some malformations described in this paper closely resemble those observed in sm/sm (syndactylism) and pf (pupoid fetus) mouse embryos.

Animals↗

Natural history of mosaic trisomy 14 syndrome.

Trisomy 14 mosaicism produces a distinct phenotype. Among the 13 reported and 2 additional patients, the following findings were present in more than 90%: growth retardation (15/15), psychomotor retardation (10/10), broad nose (13/14), "dysplastic" and/or apparently low-set ears (15/15), micrognathia (15/15), short neck (11/12), congenital heart disease (14/15), and micropenis and cryptorchidism (6/6). Other frequent findings were prominent forehead (12/14), hypertelorism (8/13), narrow palpebral fissure (7/9), large mouth (10/14), cleft or highly arched palate (10/14), body asymmetry (8/12), and abnormal skin pigmentation (6/10). Sex ratio was 6M:9F. Four patients died before age 4 months, while at least 2 patients survived through teens. One boy died at age 3 years following cardiac surgery. One girl with tetralogy of Fallot showed a remarkable improvement in health after Blalock-Taussig procedure. Although the surviving patients showed moderate growth and mental retardation, the oldest surviving woman at 29 years demonstrates functional language and appropriate self help skills.

Abnormalities, Multiple↗

The metabolism of fibroblasts from normal and fibrotic skin is inhibited by minoxidil in vitro.

The effects of minoxidil in vitro were studied using fibroblasts grown from the lesional skin of patients with lichen sclerosus et atrophicus, morphoea and from the skin of normal individuals. The proliferation of all fibroblast lines over 3 days was inhibited in proportion to the concentration of minoxidil, being 20% or less of controls at 1 mM, where cell viability was only marginally reduced (84 +/- 2% vs. 88 +/- 2% (SEM) in controls). At 5 mM there was usually a net loss of cells and only 72% of those remaining were viable. In contrast, minoxidil at 0.1-1 mM stimulated the proliferation of foreskin keratinocytes by up to 130%. Contraction of collagen lattices containing the three types of fibroblasts was inhibited by 22-26% with 1 mM minoxidil after 5 days and by 50-94% with 5 mM. Secretion of glycosaminoglycans by normal fibroblasts showed concentration-dependent reduction, being 25 +/- 6% of that of untreated cultures with 1 mM minoxidil. These findings show that minoxidil has a range of inhibitory effects on both normal and abnormal skin fibroblasts in vitro, which contrast with its stimulation of skin epithelial cells, and support suggestions that it may provide a useful topical treatment for keloids and other fibroses.

Cell Division↗

Sequential changes of skin conductance activity in rats after intraventricular administration of 6-hydroxydopamine.

Thirty two male Wistar strain rats were trained to have their skin conductance activity recorded through the soles of their hind limbs, and sequential changes of this activity after the intraventricular administration of 6-OHDA (200 micrograms) were studied. The intact rats showed SCR and its habituation to repeated auditory stimuli (500 Hz, 90 dB, 1 sec). The 6-OHDA treatment obliterated SCR and reduced the rate of spontaneous fluctuation in the early stage after the treatment. From the second day to one week after the treatment, with recovery of the spontaneous fluctuation rate, the SCR tended to reappear, and its habituation gradually slowed down. Two and three weeks after the treatment, the 6-OHDA rats usually showed habituation failure of SCR, but default of SCR was still observed at times. These findings suggest that denervation of the catecholaminergic fibers by intraventricular 6-OHDA is responsible for the obliteration of SCR, and denervation supersensitivity, which develops later, may be the cause of its habituation failure. The mechanisms underlying abnormal skin conductance activity of schizophrenia were discussed in line with the catecholamine hypothesis of this disease.

Animals↗

Primary cutaneous T-cell lymphoma: review and current concepts.

PURPOSE: Primary cutaneous T-cell lymphomas (CTCLs) encompass a wide variety of lymphomas that are characterized by the localization of the malignant lymphocytes to the skin at presentation. Advances in molecular biologic techniques, including immunophenotyping and gene rearrangement studies to determine clonality, have led to more frequent diagnosis of CTCL as well as more consistent subclassification of these entities. However, there continues to be confusion in the classification, prognosis, and management of patients with CTCL. The purpose of this review is to present a summary of the diagnosis, prognosis, and treatment of CTCL, with specific emphasis on mycosis fungoides (MF) and Sézary syndrome (SS). We also present a detailed discussion of the entities that make up the differential diagnosis of CTCL. DESIGN: We reviewed the medical literature on CTCL and other diseases that make up the differential diagnosis of CTCL. RESULTS AND CONCLUSION: MF and SS are the most common forms of CTCL. The etiology of this disease is still unknown. Patients may go for months to years with skin abnormalities before being diagnosed. MF/SS is an indolent disease and patients with T1 disease have a normal life expectancy. Patients who undergo transformation to large-cell lymphoma (8% to 23% of patients) have a poor prognosis, with mean survival ranging from 2 to 19 months. Treatment for MF/SS continues to be palliative. There are many new therapies that are currently being investigated in clinical trials, and the DAB(389)IL-2 fusion protein was recently approved for the treatment of refractory MF/SS.

Diagnosis, Differential↗

Does preoperative stoma marking and education by the enterostomal therapist affect outcome?

INTRODUCTION: It is generally accepted that preoperative patient education and skin marking for a stoma location are important in avoiding stoma complications. At our institution, enterostomal therapists are available to educate and mark patients before their surgery. However, for various reasons, not all patients who had an elective stoma created, had preoperative skin marking or instructions on stoma care. Our registry of patients provided us with a means of comparing patients who have undergone an elective stoma with (Group I) and without (Group II) preoperative marking and education. METHODS: Our stoma registry consisting of 1,790 patients was retrospectively reviewed from 1978 to 1996 to assess all patients who underwent elective stoma construction. Patients included for review had a total of 593 elective stomas. All patients with stomas are followed by the enterostomal therapists postoperatively and, therefore, were evaluated for both early and late complications. Early complications were defined as any adverse event occurring within 30 days of surgery and late complications as those occurring 30 days after surgery. RESULTS: Our enterostomal therapists preoperatively evaluated 292 of the 593 patients planned for possible stoma creation. This included careful marking of the stoma site by having the patients lie down, sit, and stand and locating a stable flat area on the abdomen, taking into account the belt line and any abnormal skin creases or deformities. Patients were instructed on stoma appearance with a model and given basic stoma care instructions. In Group I, there were 95 (32.5 percent) complications (68 (23.3 percent) occurred early and 27 (9.25 percent) occurred late). There were 301 patients who did not receive preoperative evaluation (Group II). In this second group, 131 (43.5 percent) complications were found, (95 (31.6 percent) occurred early and 36 (12 percent) occurred late). The difference in total number of complications between groups was determined to be statistically significant, with a P value of <0.0075, as was the difference in early complications, with a P value of <0.03. The difference in late complications is not significant, with a P value of <0.34. CONCLUSIONS: These results confirm that preoperative evaluation by an enterostomal therapist, marking of the skin site, and providing patient education reduce adverse outcomes. All elective procedures that may result in stoma formation should, therefore, be assessed and marked preoperatively. Patients, likewise, should be informed and taught to care for their forthcoming stomas preoperatively and postoperatively.

Enterostomy↗

Characterization of anti-endothelial cell antibodies in systemic lupus erythematosus (SLE).

IgG anti-endothelial antibodies (AEA), as measured by ELISA or immunoblotting technique could be detected in serum samples of 56 out of 64 patients with SLE (88%) and mainly occurred in monomeric form. AEA were not cell specific, because the binding reactivity was absorbed partially by both fibroblasts and peripheral blood mononuclear cells. No correlation was found between the presence of AEA and anti-nuclear antibodies. Immunoblotting revealed reactivity of AEA against endothelial antigens ranging in size from 15 to 200 kD. AEA titres were significantly higher in patients with joint or skin abnormalities, compared with patients without these abnormalities. A significant correlation was found between nephritis in SLE and the presence of AEA reactivity against endothelial membrane antigens of 38, 41 and 150 kD. These data show that the pattern of AEA reactivity in serum of SLE patients is heterogeneous, and suggest that AEA against a limited number of antigens may be involved in the pathogenesis of nephritis in SLE.

Antibodies, Anti-Idiotypic↗

Musculoskeletal symptoms as a presenting sign of long-standing hypothyroidism.

Muscle and joint pains and/or weakness are not usually stressed as central symptoms in hypothyroidism. Two cases of long-standing hypothyroidism presenting with prominent myopathic symptoms are described. The first patient presented with a 12-year history of proximal myopathy, arthropathy and skin abnormalities, and florid primary myxedema was diagnosed. No evidence for a systemic autoimmune process was found. The second patient had been treated with irradiation to the neck 23 years before admission and presented with clinical and laboratory signs of both proximal myopathy and hypothyroidism. Thyroid hormone replacement resulted in a complete recovery of all the musculoskeletal symptoms, with reversion to normal of the very high muscle enzyme levels in both patients. The cases presented illustrate that hypothyroidism can lead to the development of a variety of muscular, rheumatic and dermatologic syndromes easily confused with dermatomyositis or other collagen diseases.

Adult↗

Systemic involvement and immunologic findings in patients presenting with Raynaud's phenomenon.

Systemic involvement and spectrum of autoantibodies were evaluated in 91 patients presenting with Raynaud's phenomenon. Decreased pulmonary diffusing capacity was observed in 23 percent, esophageal hypomotility in 14 percent and renal involvement in 5 percent of the patients, all without clinical symptoms. Arthralgia or a history of arthritis was present in 27 percent and skin abnormalities in 30 percent. Extent of systemic involvement was correlated with the severity of Raynaud's phenomenon, as measured by photoelectric plethysmography (r = 0.38; p < 0.01). In addition, both the variety of different autoantibodies in the serum of individual patients and the titer of antinuclear antibodies were positively correlated with the number of affected organ systems (r = 0.63; p < 0.01 and r = 0.65; p < 0.01, respectively). Raynaud's phenomenon is an important clinical sign of asymptomatic systemic disease. Measurements of its severity and serologic parameters are helpful in predicting the extent of systemic involvement.

Adult↗

Neurofibromatosis type 2 in an infant with multiple plexiform schwannomas as first symptom.

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that is caused by inactivating mutations or a loss of both alleles in the NF2 tumor-suppressor gene. Bilateral vestibular schwannomas are considered to be the hallmark of this disease, with hearing loss and tinnitus which are caused by these tumors, usually presenting as the initial symptoms. In addition to other tumors and ocular findings, skin abnormalities also occur in NF2, however, they are not so characteristic as neurofibromatosis type 1 (NF1). We herein report a case of NF2 which occurred in a 5-year-old boy. He had multiple cutaneous tumors but did not have any symptoms related to vestibular schwannomas. He also had multiple depigmented spots. A histopathological examination revealed these tumors to be plexiform schwannomas; we therefore suspected NF2. As a result of magnetic resonance imaging with gadolinium enhancement, bilateral vestibular schwannomas were detected and a final diagnosis of NF2 was thus made. The association between NF2 and multiple depigmented spots is unknown, we therefore consider that multiple cutaneous plexiform schwannomas may strongly suggest an association with NF2.

Child, Preschool↗

Long-term culture of murine epidermal keratinocytes.

The production of transgenic and null mice with skin abnormalities makes it increasingly important to establish cultures of mouse epidermal keratinocytes for in vitro studies. This requires that each cell line be derived from a single mouse and that the cells be carried for multiple passages. Freezing the cells would also be advantageous by allowing comparison of keratinocytes from several mouse lines at the same time. Mouse keratinocytes, however, have been exceedingly difficult to grow as primary cultures, and subculturing these cells has been virtually impossible until now. We describe a gentle dissociation method and a highly supplemented fibroblast conditioned medium that allows us to grow and subculture total mouse keratinocytes for up to 19 subcultures, allowing an increase in cell number of greater than 10 logs. Epidermal keratinocytes from newborn mice were grown on collagen IV coated dishes in murine fibroblast conditioned medium with 0.06 mM calcium and added growth factors. The cells could be passaged, frozen as viable stocks, and induced to differentiate. Morphologically the cultured keratinocytes demonstrated a pattern characteristic of basal cells. Stratified cultures which made mouse keratin 1 and profilaggrin through passage 10 were induced by purging the monolayer cultures of growth factors, then adding medium with 0.15 mM calcium; expression of mouse keratin 1 and profilaggrin was lost by passage 15. The methods explained in detail here should be of great interest to investigators who are now trying to analyze skin phenotypes and expression of markers of epidermal differentiation of their transgenic or knockout mice.

Animals↗

Is targeted early detection for melanoma feasible? Self assessments of risk and attitudes to screening.

OBJECTIVES: To study the feasibility of developing targeted screening for those at high risk of melanoma by examining how attitudes relate to (a) acceptance of an invitation for a free skin check and (b) self assessed and clinically assessed risk factors for developing cutaneous melanoma. DESIGN: A population based cross sectional survey. SETTING: A general practice with a broad mix of socioeconomic groups in one district health authority. SUBJECTS: A total of 1600 subjects aged 25-69 years stratified using the social deprivation score of wards were randomly selected from a population of 8000; 77% (1227) returned the questionnaire and 56% (896) attended for screening. MAIN OUTCOME MEASURES: Questionnaire measures of confidence in own ability to self assess risk factors for melanoma, attitudes to seeking medical help for skin abnormalities, and self assessment of relative risk of developing melanoma. RESULTS: Clinic attenders were less confident in their ability to self assess risk factors (p<0.005), more favourable towards seeking help (p<0.001), and more pessimistic about developing melanoma (p<0.001) than non-attenders. Those from more affluent wards were more willing to seek help (p<0.001). Those clinically assessed as at higher risk were more pessimistic about developing melanoma (p<0.001) but clinical assessments were inconsistently related to help seeking attitudes and self assessment confidence. CONCLUSIONS: Barriers to the uptake of screening included greater optimism about not developing melanoma, confidence in self assessment, and reluctance to seek professional help. Such reluctance was greater in more deprived social groups. Targeting screening at high risk groups cannot depend on self identification and self referral.

Attitude to Health↗

Occult spinal dysraphism.

When spina bifida is associated with skin abnormalities such as dimples, sinus tracts hypertrichosis, or capillary hemangiomas, there is a high incidence of an occult intraspinal lesion such as epidermoid and dermoid tumours, lipomas, diastematomyelia, dural bands and tethered spinal cord. The present study consists of 50 patients with occult spinal dysraphism treated with the diagnosis of lipomeningomyelocoele (20), lumbosacral lipoma (15) and diastematomyelia (15). The clinical presentation varied from lipoma in the lumbosacral region, dermal sinus, cutaneous hemangioma and hypertrichosis. The age range varied from 2 months to 7 years with an average of 2 years. 40% patients had neurological deficit at the time of presentation which varied from lower limb weakness to bladder & bowel involvement. All patients underwent laminectomy of the lumbar and lumbo-sacral spine with excision of intraspinal lipoma, excision of bony or cartilaginous spur in diastematomyelia and detethering of the conus medullaris & cauda equina. No patient developed late neurological deficit.

Child↗

A reappraisal of the use of infrared thermal image analysis in medicine.

Infrared thermal imaging of the skin has been used for several decades to monitor the temperature distribution of human skin. Abnormalities such as malignancies, inflammation, and infection cause localized increases in temperature which show as hot spots or as asymmetrical patterns in an infrared thermogram. Even though it is nonspecific, infrared thermology is a powerful detector of problems that affect a patient's physiology. While the use of infrared imaging is increasing in many industrial and security applications, it has declined in medicine probably because of the continued reliance on first generation cameras. The transfer of military technology for medical use has prompted this reappraisal of infrared thermology in medicine. Digital infrared cameras have much improved spatial and thermal resolutions, and libraries of image processing routines are available to analyze images captured both statically and dynamically. If thermographs are captured under controlled conditions, they may be interpreted readily to diagnose certain conditions and to monitor the reaction of a patient's physiology to thermal and other stresses. Some of the major areas where infrared thermography is being used successfully are neurology, vascular disorders, rheumatic diseases, tissue viability, oncology (especially breast cancer), dermatological disorders, neonatal, ophthalmology, and surgery.

Biophysical Phenomena↗