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Results for “Skin Abnormalities”

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At least 289 records · Page 16Linked to original sources
PubMed2004

Genetic association between an AACC insertion in the 3'UTR of the stratum corneum chymotryptic enzyme gene and atopic dermatitis.

Atopic dermatitis is a disease with an impaired skin barrier that affects 15%-20% of children. In the normal epidermis, the stratum corneum chymotryptic enzyme (SCCE) thought to play a central role in desquamation by cleaving proteins of the stratum corneum (e.g., corneodesmosin and plakoglobin). Genetic variations within the SCCE gene could be associated with dysregulation of SCCE activity leading to an abnormal skin barrier. We screened the SCCE gene for variations and performed a case-control study on 103 atopic dermatitis patients and 261 matched controls. 16 synonymous single nucleotide polymorphisms (SNPs) have been identified and a 4 bp (AACC) insertion has been found in the 3'UTR. We performed an association study of the SCCE AACC insertion in the 3'UTR, and found a significant trend between the AACC allele with the two insertions and disease in the overall data set [odds ratio (OR)=2.31; p=0.0007]. The AACC insertion in the SCCE gene may result in a change to SCCE activity within the skin barrier. These findings suggest that SCCE could have an important role in the development of atopic dermatitis.

3' Untranslated Regions↗
PubMed2005

Inherited disorders of desmosomes.

Desmosomes are highly organized intercellular junctions that provide mechanical integrity to tissues by anchoring intermediate filaments to sites of strong adhesion. These cell-cell adhesion junctions are found in skin, heart, lymph nodes and meninges. Over the last 8 years, several naturally occurring human gene mutations in structural components of desmosomes have been reported. These comprise autosomal dominant or recessive mutations in plakophilin 1, plakophilin 2, desmoplakin, plakoglobin, desmoglein 1, desmoglein 4 and corneodesmosin. These discoveries have often highlighted novel or unusual phenotypes, including abnormal skin fragility and differentiation, and developmental anomalies of various ectodermal appendages, especially hair. Some desmosomal gene mutations may also result in cardiac disease, notably cardiomyopathy. This article describes the spectrum of clinical features that may be found in the inherited disorders of desmosomes and highlights the key functions of several of the desmosomal proteins in tissue adhesion and cell biology.

Animals↗
PubMed1992

Clinical response of alopecia, trichorrhexis nodosa, and dry, scaly skin to zinc supplementation.

Two unrelated patients had dry brittle hair, alopecia, trichorrhexis nodosa, dry scaly skin, pigment dyschromia, short stature, and neurosecretory growth hormone deficiency. By means of the zinc tolerance test, patient 1 was shown to have zinc deficiency, whereas no clear zinc deficiency could be demonstrated in patient 2. In both patients, hair and the skin abnormalities responded to oral zinc therapy.

Alopecia↗
PubMed2005

The role of high-dose immune globulin intravenous in the treatment of dermatomyositis.

Dermatomyositis (DM) is a complement-mediated microangiopathy affecting skin and muscle resulting in skin abnormalities, including subcutenous calcifications, muscle weakness and disability. The disease generally responds to steroids or immunosuppressive drugs, but a number of patients are resistant or partially responsive to these therapies, prompting us to examine the efficacy of IVIg. A double-blind placebo-controlled study demonstrated that IVIg is very effective in improving both the muscle strength and the skin rash. The clinical benefit, which was impressive in patients with early disease, was associated with improvement in the muscle cytoarchitecture. Quantitative histological studies in repeated muscle biopsies showed a statistically significant increase in the size of muscle fibers and the number of capillaries with normalization of the capillary diameter. Resolution of the aberrant immunopathological parameters, including interception of complement activation products and downregulation of T cells, ICAM-I, VCAM, TGF-beta and MHC-I molecules, was also noted. Further, a number of immunoregulatory and structural genes were modified in the patients' muscle biopsies after therapy. The study concluded that IVIg is an effective second-line therapy for patients with DM incompletely responding to steroids.

Clinical Trials as Topic↗
PubMed1990

Cardio-facio cutaneous syndrome: neurological manifestations.

Cardio-facio-cutaneous (CFC) syndrome is a not uncommon syndrome with a characteristic face, mental retardation, abnormal skin and hair and congenital heart disease. We report the 16th case of this syndrome and give details of the spectrum of neurological manifestations in the cases so far reported.

Abnormalities, Multiple↗
PubMedDate not supplied

Skin-identical lipids versus petrolatum in the treatment of tape-stripped and detergent-perturbed human skin.

The cutaneous permeability barrier is localized to the stratum corneum interstices and is mediated by lamellar bilayers enriched in cholesterol, free fatty acids and ceramides. Topically applied lipids may interfere with the skin barrier function and formulations containing "skin-identical lipids" have been suggested to facilitate normalization of damaged skin. The aim of the present study was to compare the ability of "skin-identical lipids" in a petrolatum-rich cream base and pure petrolatum to facilitate barrier repair in detergent- and tape-stripped-perturbed human skin. Barrier recovery and inflammation were instrumentally monitored for 14 days as transepidermal water loss and skin blood flow, using an Evaporimeter and a laser Doppler flowmeter, respectively. Treatment with the 2 different products gave no indication that "skin-identical lipids" in a cream base are more efficient than pure petrolatum at promoting normalization in either of the 2 experimentally perturbed areas. This finding may support the hypothesis that different types of skin abnormality should be treated according to the underlying damage.

Administration, Topical↗
PubMed1998

A variety of skin responses to ultraviolet irradiation in patients with atopic dermatitis.

Skin responses to ultraviolet irradiation in patients with atopic dermatitis were studied to evaluate the role of sunlight in the exacerbation of atopic dermatitis. A total of 15 patients, seven males and eight females, with atopic dermatitis who complained of exacerbation of their dermatitis after sun exposure were examined by photo testing with UVB and UVA irradiation and photopatch tests. Nine out of 15 patients showed abnormal skin reactions. Lowered minimal erythema doses (MEDs) to a single exposure of UVB, papular or erythematous responses after single or repeated exposures to UVB or UVA and positive photopatch test reactions to sunscreen ingredients and fragrances were found. There are apparently multiple mechanisms of photoexacerbation in patients with atopic dermatitis.

Adult↗
PubMed1999

Glial heterotopia in the subcutaneous tissue overlying T-12.

Heterotopic glial nodules occur most commonly in the head and neck area, and are theorized to arise following abnormalities in the development of the facial and skull bone plates. However, in spite of the fact that some of these lesions are associated with communication with the central nervous system (CNS), the lack of a meningeal component, argues against simple herniation and separation of brain tissue through a defect in the skull. We present an infant with a nodule directly over the spine present in the T-12 region with no skin abnormalities. Magnetic resonance imaging (MRI) and computerized axial tomography (CT) showed no spinal abnormalities with an overlying fibrotic soft tissue mass. The patient had no other associated clinical findings. Histologic findings showed a cellular component arising within the reticular dermis with a deep circumscribed margin. The nodule contained irregularly shaped cells containing abundant cytoplasm and indistinct cellular margins with bland nuclei. These cells were clustered around and between a fibro-mucinous stroma. Immunohistochemical stains showed positive staining for S-100 protein, vimentin, GFAP, NSE, and CD57, and negative staining for Ki-67, CD34, Neurofilament protein, cytokeratin, and EMA. The spindle cells showed positive staining for CD34 and vimentin. The clinical and histologic features and immunohistochemical profiles are used to separate this lesion from the closely related, ependymal rests, ependymomas, and primary cutaneous chorodomas.

CD57 Antigens↗
PubMed1978

A singular dermatosis of Mongols.

A long-term, erythematous, follicular papular dermatosis affecting the presternal and interscapular skin was found to occur in subjects with Down's syndrome. One hundred seventy-four subjects (110 male and 64 female) were surveyed. The condition was seen in 46% of the males, with the highest incidence in patients who were between 20 and 40 years of age; the condition was rare in the females. Our findings suggest that this condition is much commoner than any other abnormal skin feature described in the literature on Down's syndrome.

Adult↗
PubMed2005

Mechanism of L-arginine-induced sebaceous gland hyperplasia in rats.

OBJECTIVE: To study the effect of L-arginine (L-arg) on the sebaceous gland of SD rat. METHODS: The SD rats of different sexes and ages were subjected to intragastric administration of L-arg at 10 mg.kg(-1).d(-1) (L-arg group) or saline (saline group) for 14 days. Blood samples were obtained from these rats for serum androgen determination and the pathological changes of the skin were observed. RESULTS: After L-arg treatment for 7 days, the dorsal hair of all the adult male rats appeared damp, greasy and yellow, while that of the adult and 5-week-old female rats looked normal. When the treatment was prolonged to 14 days, the same changes occurred in most of the adult female rats and all the 5-week-old female rats. The sebaceous glands of the abnormal skin showed hyperplasia in pathologic examination. The serum levels of androgen in rats with sebaceous gland hyperplasia were significantly higher than those in the control rats. CONCLUSION: L-arg can promote sebaceous gland hyperplasia in rats in relation to increased androgen secretion induced by L-arg and NO.

Androgens↗
PubMed1995

Retinoblastoma in association with the chromosome breakage syndromes Fanconi's anaemia and Bloom's syndrome: clinical and cytogenetic findings.

Two children presenting with sporadic unilateral retinoblastoma and exhibiting a high degree of chromosome breakage were noted to have unusual facies, microcephaly and abnormal skin pigmentation. In the first child the pattern of both spontaneous and mitomycin-C-induced chromosome breakage was characteristic of Fanconi's anaemia although the degree of breakage was extreme. She also exhibited a striking increase in X-ray-induced chromosomal damage in G0 lymphocytes as measured by dicentric formation and increase in chromatid-type aberrations. She had a number of typical clinical features, including cafe-au-lait patches and abnormalities involving the kidney; however, she demonstrated neither the hypoplasia of radius and thumb nor the typical aplastic phase of this disorder. At age 22 months the child became anaemic with trilineage myelodysplasia, which was rapidly followed by the development of acute myeloblastic leukaemia. The early onset (at age 4 months) of retinoblastoma may have been associated with the underlying genomic instability. The second child exhibited a pattern of chromosome breakage characteristic of Bloom's syndrome, in addition to a moderate increase in damage induced by mytomycin-C. She had the typical stunted growth and malar hypoplasia of Bloom's syndrome although she did not demonstrate the frequently described erythematous 'butterfly rash' Although patients with Fanconi's anaemia and Bloom's syndrome are recognised to be at an increased risk of cancer, retinoblastoma has not previously been described in patients with either condition. We suggest that underlying recessive chromosome breakage syndromes may be underdiagnosed in paediatric cancer patients, with important implications for prognosis and genetic counselling.

Bloom Syndrome↗
PubMed2004

Gap junction diseases of the skin.

Gap junctions are intercellular channels that allow the passage of water, ions, and small molecules. They are involved in quick, short-range messaging between cells and are found in skin, nervous tissue, heart, and muscle. An increasing number of hereditary skin disorders appear to be caused by mutations in one of the genes coding for the constituent proteins of gap junctions, known as connexins. In this review, the currently known connexin disorders that feature skin abnormalities are described: keratitis-ichthyosis deafness syndrome, erythrokeratoderma variabilis, Vohwinkel's syndrome, and a novel disorder called hypotrichosis-deafness syndrome. What is known about the pathogenesis of these disorders is discussed and related to gap junction physiology.

Connexins↗
PubMed1999

Congenital ichthyosiform erythroderma: particulate staining pattern of TGK.

A case of late onset non-bullous congenital ichthyosiform erythroderma (CIE) was studied. This patient was not born as a collodion baby and did not have skin abnormalities until 9-10 years of age. She gradually developed erythroderma and fine scales, callosities of her feet, and a mild ectropion. Since recent work has revealed that in the majority of CIE patients, transglutaminase (TGK) is distributed in the cytoplasm of granular cells and horny cells (11), TGK was studied in our case. It was found that TGK was distributed along the cell periphery of horny cells and also in the cytoplasm of granular cells. In the control skins, TGK was stained along the cell periphery of horny cells and granular cells. The marginal band formation was normal. Involucrine and loricrin, the building materials of the marginal band whose-cross-linking is mediated by TGK, were normally stained in the upper epidermis. Cytoplasmic TGK of granular cells and normal development of the marginal band may serve as a helpful diagnostic marker of CIE, particularly because the often confusing collodion baby of lamellar ichthyosis may lack TGK staining and the marginal band altogether.

Age of Onset↗
PubMed1993

Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression.

Clinical features and histological findings in two sibs who died from restrictive dermopathy in the neonatal period are described. Fibroblasts cultured from a skin biopsy from the second sib and fibroblasts from normal neonatal skin were studied using monoclonal antibodies to visualise integrin subunits by immunocytochemistry. Restrictive dermopathy fibroblasts displayed increased expression of the alpha-1 and alpha-2 subunits of integrin, those responsible for collagen binding. The increase was not matrix dependent. Integrins may play an important role in tissue differentiation, and our findings support the hypothesis that restrictive dermopathy is a disorder of skin differentiation.

Abnormalities, Multiple↗
PubMed1995

Cutaneous paraneoplastic syndromes in solid tumors.

OBJECTIVE: To provide an overview of the clinical manifestations, pathophysiology, and oncologic implications of the cutaneous paraneoplastic syndromes that occur predominantly in patients with solid tumors. METHODS: A review was performed of the literature identified by a comprehensive MEDLINE search. RESULTS: Diverse cutaneous paraneoplastic syndromes may be associated with underlying tumors. They include musculoskeletal disorders (clubbing, hypertrophic osteoarthropathy, dermatomyositis, and multicentric reticulohistiocytosis), reactive erythemas (erythema gyratum repens and necrolytic migratory erythema), vascular dermatoses (Trousseau's syndrome), papulosquamous disorders (acanthosis nigricans, tripe palms, palmar hyperkeratosis, acquired ichthyosis, pityriasis rotunda, Bazex's syndrome, florid cutaneous papillomatosis, the sign of Leser-Trélat, and extramammary Paget's disease), and disorders of hair growth (hypertrichosis lanuginosa acquisita). The clinical manifestations of these dermatoses may precede, coincide with, or follow the diagnosis of cancer. The presence of a cutaneous paraneoplastic syndrome is often associated with a poor prognosis. CONCLUSIONS: Cutaneous paraneoplastic syndromes are specific constellations of mucous membrane and/or skin abnormalities that are caused by an underlying tumor. Since they may be the presenting sign of an occult cancer, cognizance of their features and clinical implications are of considerable importance. Individuals with these syndromes should have a thorough workup for an associated malignancy.

Female↗
PubMed2006

Xeroderma pigmentosum and lentigo maligna in identical twins.

Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. Skin abnormalities result from an inability to repair UV-damaged DNA. Clinically, XP presents with early onset cutaneous changes (severe photosensitivity, actinic keratoses, and telangiectasias) and an increase of developing cutaneous malignancies beginning in early childhood, but lentigo maligna and melanomas are relatively rare. Here we report on homozygote twins in whom there was no positive family history. They showed subnormal physical growth. On ophthalmological examination, both had photophobia and decreased visual acuity. Since birth, several excisions had been performed for skin neoplasms. In one of them a pigmented patch developed over the frontal area which proved to be lentigo maligna and she was referred to a dermato-oncology center. They have been given isotretinoin and physical sunscreen since then. The follow-up period was extended to 2 years and no serious complications occurred from the above treatment. This is an interesting report about XP in twins with the presentation of the rare neoplasm lentigo maligna.

Child↗
PubMed1997

Skin blood flow abnormalities in a rat model of neuropathic pain: result of decreased sympathetic vasoconstrictor outflow?

Loose ligation of a sciatic nerve in rats provokes signs and symptoms like those observed in human conditions of neuropathic pain. Some of these have been associated with sympathetic dysfunction. Since the skin microcirculation in the rat is strongly influenced by sympathetic tone, abnormalities in skin blood flow may be used as an indirect measure of sympathetic dysfunction. We measured, by means of laser Doppler flowmetry, skin blood flow at the plantar surface of the rat hind paw before and after ipsilateral loose sciatic nerve ligation. We assessed basal skin blood flow as well as the vasoconstrictor response which follows cooling of the rat abdomen. The effectiveness of this response may be used as a measure of sympathetic vasoconstrictor outflow. As compared to the values obtained before ligation (= 100%): (1) the vasoconstrictor response was impaired (65%, P < 0.01) from day 1 onwards, whereas (2) basal skin blood flow was increased (171%; P < 0.01) from day 3 until day 5, and decreased (51%, P < 0.0001) from day 7 until day 28. At day 28, blockade of impulse propagation in the loosely ligated sciatic nerve (by means of lidocaine) did not increase the lowered level of skin blood flow. These findings suggest that in the chronic construction injury model loose ligation of a sciatic nerve reduces sympathetic vasoconstrictor outflow, which, in turn may induce supersensitivity of skin microvessels to catecholamines.

Animals↗
PubMed2005

[Guideline 'Melanoma' (3rd revision)].

The guidelines 'Melanoma' (3rd revision) are evidence-based in nature. A number of outcomes are summarised in this article. Dermatoscopy deserves a standard role in the clinical diagnosis of pigmented skin abnormalities. Pathological findings from a diagnostic excision should be recorded meticulously to include anatomical localisation, type of intervention used, excision margin, diagnosis, Breslow thickness, and the completeness of the removal. The sentinel node procedure should be reserved for patients who want to be as informed as possible about their prognosis. The procedure is not considered a part of standard diagnosis. Sentinel node assessment should include stains for specific markers and should be conducted in multiple sections. The following margins of non-affected skin are recommended for therapeutic re-excision of melanoma: in situ melanoma, 0.5 cm; Breslow thickness < or = 2 mm, 1 cm; Breslow thickness > 2 mm, 2 cm. Pathological assessment of a re-excised specimen depends on the completeness of the first excision. Systematic adjuvant treatment of patients with melanoma is not recommended outside the context of a clinical study. Patients with metastatic melanoma are preferably treated within a clinical study. Outside of a clinical study, these patients should be treated with dacarbazine. There is no evidence to suggest that survival is improved by frequent follow-up. However, follow-up can be a useful way to meet the information needs of patients and care requirements for physicians.

Dermatology↗