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PubMed2000

Ehlers-Danlos type VIII. Review of the literature.

Ehlers-Danlos type VIII is a rare disorder characterized by soft, hyperextensible skin, abnormal scarring, easy bruising, and generalized periodontitis with early loss of teeth. To illustrate the clinical dermatological and dental features, we present the case history of a 20-year-old patient who has suffered from poor healing of wounds at the shins and knees since childhood, which have developed into hyperpigmented atrophic scars. In the course of orthodontic treatment during the last 3 years, severe apical root resorption, gingival recession, and loss of alveolar bone were observed. Family history was noncontributory for any skin or tooth disorders. The typical clinical signs confirmed the diagnosis of Ehlers-Danlos syndrome type VIII. As there is no specific treatment for the disorder, management is limited to the symptomatic treatment of the dental disease. It seems advisable to consider carefully the indications for orthodontic treatment in patients with Ehlers-Danlos type VIII syndrome.

Adult↗
PubMed1994

Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease.

Hydrolysis of glucosylceramide by beta-glucocerebrosidase results in ceramide, a critical component of the intercellular lamellae that mediate the epidermal permeability barrier. A subset of type 2 Gaucher patients displays ichthyosiform skin abnormalities, as do transgenic Gaucher mice homozygous for a null allele. To investigate the relationship between glucocerebrosidase deficiency and epidermal permeability barrier function, we compared the stratum corneum (SC) ultrastructure, lipid content, and barrier function of Gaucher mice to carrier and normal mice, and to hairless mice treated topically with bromoconduritol B epoxide (BrCBE), an irreversible inhibitor of glucocerebrosidase. Both Gaucher mice and BrCBE-treated mice revealed abnormal, incompletely processed, lamellar body-derived sheets throughout the SC interstices, while transgenic carrier mice displayed normal bilayers. The SC of a severely affected type 2 Gaucher's disease infant revealed similarly abnormal ultrastructure. Furthermore, the Gaucher mice demonstrated markedly elevated transepidermal water loss (4.2 +/- 0.6 vs < 0.10 g/m2 per h). The electron-dense tracer, colloidal lanthanum, percolated between the incompletely processed lamellar body-derived sheets in the SC interstices of Gaucher mice only, demonstrating altered permeability barrier function. Gaucher and BrCBE-treated mice showed < 1% and < 5% of normal epidermal glucocerebrosidase activity, respectively, and the epidermis/SC of Gaucher mice demonstrated elevated glucosylceramide (5- to 10-fold), with diminished ceramide content. Thus, the skin changes observed in Gaucher mice and infants may result from the formation of incompetent intercellular lamellar bilayers due to a decreased hydrolysis of glucosylceramide to ceramide. Glucocerebrosidase therefore appears necessary for the generation of membranes of sufficient functional competence for epidermal barrier function.

Animals↗
PubMed2003

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair.

OBJECTIVES: The goal of this study was to analyze the genetic disorder of a family with cardiomyopathy, skin disorder, and woolly hair. BACKGROUND: Arrhythmogenic right ventricular dysplasia (ARVD) is a heart muscle disorder causing arrhythmia and sudden cardiac death. We report a patient with familial autosomal recessive ARVD, woolly hair, and a pemphigous-like skin disorder with a new mutation in the desmoplakin gene. METHODS: Genomic deoxyribonucleic acid was extracted from the patient's blood and 12 first- and second-degree family members, and was amplified by polymerase chain reaction. Linkage analysis with polymorphic microsatellites was performed for 11 genes that code for structural desmosomal proteins. The genetic locus of the disease in this family was mapped to the chromosomal region 6p24 that contains the desmoplakin gene. Exons of the desmoplakin gene were analyzed by single-strand conformational polymorphism and direct sequencing. Confirmation of the mutation was carried out by restriction enzyme analysis. RESULTS: We identified in the patient a homozygous missense mutation in exon 24 of the desmoplakin gene, leading to a Gly2375Arg substitution in the C-terminal of the protein where the binding site to intermediate filaments is located. Eight of 12 family members without hair or skin abnormalities were heterozygous for this mutation. The remaining 4, as well as 90 unrelated healthy control individuals of the same ethnic origin, were homozygous for the normal allele. CONCLUSIONS: We have described a new mutation in the desmoplakin gene that causes familial ARVD. These findings suggest that desmosomal proteins play an important role in the integrity and function of the myocardium. Dysfunction of these proteins can lead to the development of cardiomyopathies and arrhythmias.

Abnormalities, Multiple↗
PubMed1997

A retrospective clinical study of canine leishmaniasis in 150 dogs naturally infected by Leishmania infantum.

The clinical and laboratory findings observed in 150 dogs naturally infected by Leishmania infantum, from a large endemic area of southern Italy, are described. There was a gradual onset of clinical signs and the course of the disease was progressive in almost all the cases. The majority of the dogs were mongrels (43.3 per cent), male (64.7 per cent), of medium size (50.6 per cent), three to seven years old (64.7 per cent), and living outdoors (60 per cent). They showed generalised (56.7 per cent) or symmetrical (32 per cent) lymphadenomegaly; the mucous membranes of 87 of the dogs (58 per cent) were pale and moderate or severe splenomegaly was diagnosed in 80 dogs (53.3 per cent); weight loss was observed in 32 per cent of the animals. Skin abnormalities were very common, and included dry exfoliative dermatitis (56 per cent), ulcers (40 per cent) periorbital alopecia ('lunettes') (18 per cent), diffuse alopecia (14 per cent) and onychogryphosis (24 per cent). Ocular signs were observed in 24 dogs (16 per cent) including 16 cases of keratoconjunctivitis (three with keratoconjunctivitis sicca), six cases of moderate uveitis and two cases of panophthalmitis. The acute form of the disease was diagnosed in only six dogs and was characterised by fever and generalised lymphadenomegaly, and by the absence of skin lesions. Another six dogs had severe renal failure without systemic clinical signs of leishmaniasis. The most important laboratory findings were a severe or moderate increase in gammaglobulins, hypoalbuminaemia, hyperproteinemia and anaemia. Cultures or cytology tests for L infantum parasites were positive in 134 of the dogs. Following the standard procedures developed for human lymph node and bone marrow cytology tests, the leishmania density in the dogs varied from 1+ to 2+. Leishmania antibody titres were high (> 1:160) in almost all the dogs. Immunological tests for autoantibodies were positive in 25 of 53 dogs tested in the antinuclear antibody (ANA) test, in 15 of 43 dogs tested in the latex test and in five of 24 dogs tested in the Coombs test.

Animals↗
PubMed1988

Sneddon's disease presenting with visual loss and dementia.

A 51-year-old woman with Sneddon's disease presented with transient right hemifield loss of vision and transient right-sided weakness. Over the preceding decade she had experienced a slow decline in mental function. She also had hypertension, migraine, and a mixed seizure disorder. She had skin changes typical for generalized livedo reticularis but she did not have Raynaud's phenomenon or winter ulcerations. Her disease was not understood until the stroke-related symptoms were associated with the skin abnormalities. We review the neuro-ophthalmic manifestations of Sneddon's disease and add data from our case to the growing body of fact that suggests that Sneddon's disease may be an immunologically mediated vasculopathy.

Cerebrovascular Disorders↗
PubMed1996

Skin disease in rural Tanzania.

BACKGROUND: Skin disease is a common problem, accounting for significant morbidity in developing countries. Knowledge about the prevalence of different skin conditions allows appropriate planning for provision for these health needs. There are currently few data about the needs in rural areas; therefore, this study was set up to investigate skin abnormalities found in a village population in Tanzania. MATERIALS AND METHODS: A village with a population of 2,876 was chosen and one-third of the population was examined for cutaneous abnormalities. RESULTS: During the survey, 97.7% of the target population was examined. Signs of nutritional deficiency were common with koilonychia affecting 18.1% of the population examined and signs of hypoproteinemia being present in 3.4% of them. Infections and infestations were also frequently seen. Scabies was observed in 6.0% and pediculosis capitis in 5.3%. Dermatophyte infection was present in 5.1%. These were all most common in prepubertal children. Leg sores were seen in 5.1% and leg ulcers in 3.0% of the population. CONCLUSIONS: The survey reveals that easily treatable skin infections and infestations are common in a rural Tanzian population. Signs of nutritional deficiency are also frequently seen.

Adolescent↗
PubMed2004

Mosaic trisomy 15 in a short girl with hemihypotrophy and mental retardation.

We describe a girl with short stature, mild mental retardation, hemihypotrophy, atrial septal defect I, bilateral branchial cleft fistulas and abnormal skin pigmentation. Growth hormone deficiency and other frequent causes of short stature were excluded. Blood karyotype was investigated twice. In one sample an additional marker chromosome was found in one of 53 analysed metaphases, which could not be further characterized, whereas a second investigation showed a normal female karyotype. Cytogenetic studies in skin fibroblasts revealed a mosaic trisomy 15. Although mosaic trisomy 15 is a rare finding the diagnosis must be considered in the presence of pigmentary changes, body asymmetry, short stature and other minor dysmorphic signs even if blood karyotype is normal.

Abnormalities, Multiple↗
PubMed1992

Reliability of skin involvement measures in scleroderma. The UK Scleroderma Study Group.

Two methods have been proposed to quantify the extent of skin involvement in scleroderma. These are (1) a scoring system which quantifies and summates this severity rating in 17 areas of skin surface and (2) a method estimating the percentage of skin involvement using a shaded manikin. We report on a study comparing the inter-observer reliability of these two approaches using the ratings of six clinicians on 12 patients. Systematic bias between observers was noted with both methods, but inter-observer agreement, as-assessed by the intraclass correlation coefficient (ICC), was higher with the score method. The manikin method resulted in a greater degree of disagreement between the observers, as well as a higher amount of random error, reflecting the difficulty of defining the bounds of abnormal skin. Despite the presence of bias, the score method is the preferred method for assessing the level of skin involvement.

Analysis of Variance↗
PubMed2004

[Guideline 'Lyme borreliosis'].

Borrelia burgdorferi is the causative bacterial agent of Lyme borreliosis, a tick-transmitted infectious disease. The Dutch Institute for Health Care Improvement (CBO) has now issued a guideline on 'Lyme borreliosis'. Lyme borreliosis is classified as 'early', 'early disseminated', 'late' or as 'post-infectious complaints and symptoms'. Erythema migrans is the most common manifestation of early Lyme borreliosis. Frequent neurological manifestations of 'early disseminated Lyme borreliosis' include meningoradiculitis, meningitis and peripheral facial palsy, but Lyme carditis and arthritis also occur. Late Lyme borreliosis is characterised by skin abnormalities (acrodermatitis chronica atrophicans), chronic neuroborreliosis or chronic arthritis. Confirmation serology with respect to Borrelia is the most commonly used laboratory technique, but in early Lyme borreliosis the immune response may be absent. In addition, the mere presence of antibodies in the serum is no proof of an active infection with Borrelia and serology may yield false-positive reactions. Doxycycline and ceftriaxone are the most commonly used antibiotics in the various stages of Lyme borreliosis. Lyme borreliosis may be prevented by avoiding high-risk areas, keeping the skin covered as much as possible, and inspection of the skin after possible exposure to remove ticks within 24 hours. Laboratory tests after a tick bite are not recommended, nor is prophylactic treatment with antibiotics.

Animals↗
PubMed2002

[The inhibitory effect of tamoxifen on human dermal fibroblast-populated collagen lattices].

OBJECTIVE: To investigate the potential therapeutic effect of tamoxifen in treating abnormal skin scar contraction. METHODS: Fibroblast-populated collagen lattices, which were made by embedding human dermal fibroblasts within type I collagen forming a three-dimensional culture system, were used as an invitro model. Then media either without or with addition of tamoxifen from 1 mumol/L to 50 mumol/L were added to the collagen lattices. Lattice areas were measured at intervals to assess the influence of tamoxifen on the lattice contraction. To visualize changes in the morphology and vitality of fibroblasts, MTT was added to the lattices. RESULTS: Tamoxifen had an inhibitory effect on lattice contraction by a dose- and time-dependent pattern. 5 mumol/L or less of tamoxifen didn't show any influence on lattice contraction but 30 mumol/L or higher completely inhibited contraction. At intermediate concentrations from 10 mumol/L to 20 mumol/L the degree of lattice contraction was dose- and time-dependent, which was demonstrated by the reversibility of inhibition. Both the inhibition of contraction and the reversibility of inhibition appeared to correlate with changes in fibroblast morphology. CONCLUSION: Tamoxifen could inhibit the contraction of fibroblast-populated collagen lattices, indicating that tamoxifen may have potential effect on abnormal scar contraction in vivo.

Cicatrix↗
PubMed1985

Chlorpromazine-induced lupuslike disease. Case report and review of the literature.

A lupuslike disease with cutaneous manifestations secondary to the use of chlorpromazine (Thorazine) is presented. Skin biopsy specimens demonstrated classic findings consistent with lupus erythematosus and abundant mucin deposition in the cutaneous lesions--a finding not previously reported to occur in drug-induced lupuslike disease. Laboratory and serologic examinations included a positive antinuclear antibody titer, presence of single-stranded deoxyribonucleic acid (DNA), absence of double-stranded DNA, presence of antihistone antibodies, normal complement level, increased IgM level, and prolongation of partial thromboplastin time. These data confirmed our clinical and histologic diagnosis. Cessation of the medication (chlorpromazine) led to resolution of the skin abnormalities. Electron microscopy revealed electron-dense drug metabolites in vascular endothelial cells, as well as tubuloreticular inclusion bodies. This is only the second reported case of chlorpromazine-induced lupuslike disease with cutaneous manifestations.

Antibodies, Antinuclear↗
PubMed2006

Skin rejuvenation in facial surgery.

The treatment of the aging face has evolved to increasingly incorporate minimally office-based procedures. The importance of recognizing and treating facial rhytids has always been recognized as important, but an increasing number of modalities have been developed for this purpose. Similarly, there has been an increase of emphasis in the recognition of dyschromias, solar keratoses, and other skin abnormalities. In this article, an overview of many of the minimally invasive office-based procedures that we favor in our practice will be briefly reviewed.

Botulinum Toxins, Type A↗
PubMed1998

Human gnathostomiasis caused by Gnathostoma doloresi, with particular reference to the parasitological investigation of the causative agent.

Gnathostomiasis caused by Gnathostoma doloresi Tubangui was observed in a 46-year-old Japanese man, a clerk, who resided in the Fukuoka prefecture of Kyushu district, in southern Japan. The first symptom noted by the patient was epigastric pain, which occurred 3 days after he had consumed the raw flesh of a brook trout, Oncorhynchus masou masou (Brevoort), from a trout farm in neighbouring Kumamoto prefecture. Three days later, he developed creeping eruptions on his trunk. The eruptions spread and the patient was admitted to hospital 18 days after eating the trout. No nematode larvae were found in any of four skin biopsies collected on admission. However, vesicles appeared on the lower abdomen of the patient 20 days after he had eaten the trout, and a small nematode was removed from one of them. One day after the nematode had been excised, a cutaneous swelling suddenly occurred on the patient's lower left jowl and this persisted for a week. All the skin abnormalities gradually decreased from day 25 post-ingestion and had disappeared by day 30. The isolated nematode was identified as an advanced third-stage larva of G. doloresi, based on its morphology and the number of hooklets on its head-bulb.

Animals↗
PubMed1976

Cardio-cutaneous syndrome (the "LEOPARD" syndrome). Review of the literature and a new family.

Numerous reports of familial cardiac disorders associated with abnormalities of cutaneous pigmentation have appeared in the literature. In some of these there have been other somatic malformations including retardation of growth and anomalous development of the genitalia. In this paper we review the literature and describe another family with multiple lentigines occurring in six members out of eight examined. They were reported to occur in 10 other members not seen by us. The trait showed an autosomal dominant mode of inheritance and appeared to be transmitted by affected fathers. In previous reports transmission has usually been through an affected mother. In five of the six patients examined, only skin abnormalities were detected, but in the propositus the lentigines were associated with retardation of growth, hypertelorism, abnormal genitalia and complete atrioventricular block. The possible explanations for the lack of pleomorphy in other members of the family are discussed.

Adolescent↗
PubMed2003

Psoriatic lesional skin exhibits an aberrant expression pattern of interferon regulatory factor-2 (IRF-2).

Psoriasis is a T-cell-mediated inflammatory skin disease. A Th1 cytokine profile with increased levels of interferon-gamma (IFN-gamma) is predominant in skin and peripheral blood mononuclear cells (PBMCs) from psoriasis patients. Furthermore, psoriatic keratinocytes exhibit an aberrant sensitivity and response to IFN-gamma. The transcriptional activator interferon regulatory factor-1 (IRF-1) plays a crucial role in the activation of IFN-gamma-induced gene expression. Recently it was shown that mice deficient in IRF-2, a transcriptional repressor of IFN signalling and thereby acting as an IRF-1 antagonist, display psoriasis-like skin abnormalities. It was therefore hypothesized that a dysbalance between IRF-1 and IRF-2, the activator and repressor of IFN responses, respectively, contributes to the altered IFN-gamma signalling observed in patients with psoriasis. In the epidermis of patients with psoriasis and healthy controls, similar IRF-1 and IRF-2 mRNA expression levels were observed. Furthermore, it was not possible to detect any differences in IRF-1 and IRF-2 protein levels in nuclear extracts from the epidermis of controls and psoriasis patients by electrophoretic mobility shift assay and western blot analysis. Using double immunofluorescence labelling, it was observed that in normal skin IRF-1 was expressed in keratinocytes throughout the epidermis, whereas IRF-2 was restricted to the basal cell layer. In psoriatic skin, IRF-1 expression was comparable to normal skin, whereas IRF-2 was expressed in both basal and suprabasal cell layers. This altered IRF-2 expression in suprabasal cell layers may therefore result in a dysbalance between the activator and repressor of IFN responses in these cell layers, putatively contributing to aberrant responses to IFN-gamma and eventually to the psoriatic skin phenotype.

Adolescent↗
PubMed2000

Human elastase 1: evidence for expression in the skin and the identification of a frequent frameshift polymorphism.

Human pancreatic elastase 1 is a serine protease which maps to the chromosomal region 12q13 close to a locus for an autosomal dominant skin disease, diffuse nonepidermolytic palmoplantar keratoderma, and was investigated as a possible candidate gene for this disorder. Expression of two elastase inhibitors, elafin and SLPI, has been related to several hyperproliferative skin conditions. elastase 1 is functionally silent in the human pancreas but elastase 1 expression at the mRNA level was detected in human cultured primary keratinocytes. Antibody staining localized the protein to the basal cell layer of the human epidermis at a number of sites including the palmoplanta. Sequencing of genomic DNA from individuals with/without the keratoderma revealed a sequence variant, which would result in a premature truncation of the protein. This sequence variant, however, did not segregate with the skin disease and, indeed, was found to occur at a relatively high frequency in the population. Individuals homozygous for the variant do not have any obvious skin abnormalities. Based on the analysis of the secondary structure of the translated putative protein, the truncation is unlikely to result in knock-out of the elastase, but may cause destabilization of the enzyme-inhibitor complex.

Amino Acid Sequence↗
PubMedDate not supplied

Denileukin diftitox.

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. They are slow-growing and rare, occurring in fewer than 1,000 people annually. Patients may go for months to years with skin abnormalities before being diagnosed. Mycosis fungoides and Sezary syndrome are the most common forms of CTCL and are considered to be indolent diseases. Patients with T1 disease have a normal life expectancy, whereas patients who undergo transformation to large cell lymphoma (8%-23% of patients) have a poor prognosis, with mean survival ranging from 2-19 months.

Antineoplastic Agents↗
PubMed1987

Characterization of two monoclonal antibodies to human epidermal keratohyalin: reactivity with filaggrin and related proteins.

Two monoclonal antibodies (AKH1 and AKH2) were elicited with partially purified human filaggrin and characterized by immunohistochemistry on normal and abnormal skin biopsies, immunoblotting techniques, and antigen purification. Both antibodies react strongly with the granular cell layer consistent with the distribution of keratohyalin and show a more diffuse reaction with the stratum corneum in normal skin biopsies. Reaction in cultured human keratinocytes is limited to immunofluorescent granules in flattened, well-differentiated cells in confluent cultures, in which we have previously demonstrated keratohyalin. On immunoblots AKH1 reacts with filaggrin (37 kD) and profilaggrin (400 kD), while AKH2 primarily stains bands of 150 and 300 kD. The AKH2 antigens were identified in the cationic protein fraction used for immunization and were purified by gel permeation and high-performance liquid chromatography. Amino acid composition of these proteins differs only slightly from filaggrin. Immunohistochemical staining patterns of the two antibodies are very similar in the genetic disorders of keratinization tested, except for ichthyosis vulgaris, and reflect the presence and distribution of keratohyalin. In ichthyosis vulgaris, AKH1 staining is weak, consistent with the morphology and with biochemical absence of profilaggrin/filaggrin; however, AKH2 staining is positive, although weaker than normal, suggesting the presence of the AKH2 antigens even when keratohyalin is absent or abnormal. Antibodies AKH1 and AKH2 may be useful as differentiation markers for keratinization in tissues and for cells in culture. Antibody AKH1 can be used specifically for detection of profilaggrin/filaggrin in tissues, cultured keratinocytes, and extracts.

Antibodies, Monoclonal↗