Serbian Journal of Dermatology and Venereology最新文献

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Berardinelli-Seip Syndrome - A Case Report Berardinelli-Seip综合征1例报告
Serbian Journal of Dermatology and Venereology Pub Date : 2016-06-01 DOI: 10.1515/sjdv-2016-0010
J. Kazandjieva, D. Guleva, S. Márina, A. Nikolova, G. Mladenova, A. Kurtev
{"title":"Berardinelli-Seip Syndrome - A Case Report","authors":"J. Kazandjieva, D. Guleva, S. Márina, A. Nikolova, G. Mladenova, A. Kurtev","doi":"10.1515/sjdv-2016-0010","DOIUrl":"https://doi.org/10.1515/sjdv-2016-0010","url":null,"abstract":"Abstract Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome (BSS), is a rare autosomal recessive disease characterized by near total absence of adipose tissue and muscular hypertrophy. Additional common clinical signs are acanthosis nigricans, acromegaloid features, hepatomegaly, hyperandrogenism, altered glucose intolerance, cardiomyopathy and hypertriglyceridemia. An 11-year-old girl was admitted to our Clinic presenting with hyperandrogenic features, generalized lack of adipose tissue, generalized muscular hypertrophy and brownish colored skin on the neck, axillas and inguinal folds associated with impaired glucose tolerance and hypertension. A clinical diagnosis of congenital generalized lipodystrophy was made.","PeriodicalId":30659,"journal":{"name":"Serbian Journal of Dermatology and Venereology","volume":"8 1","pages":"101 - 104"},"PeriodicalIF":0.0,"publicationDate":"2016-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1515/sjdv-2016-0010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67058035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report 先天性广泛性终毛多症伴牙龈增生及面部粗糙1例报告
Serbian Journal of Dermatology and Venereology Pub Date : 2016-03-01 DOI: 10.1515/sjdv-2016-0001
J. Kazandjieva, Elisaveta Stefanova, Z. Todorova, Malena Nikolova Gergovska, K. Semkova
{"title":"Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report","authors":"J. Kazandjieva, Elisaveta Stefanova, Z. Todorova, Malena Nikolova Gergovska, K. Semkova","doi":"10.1515/sjdv-2016-0001","DOIUrl":"https://doi.org/10.1515/sjdv-2016-0001","url":null,"abstract":"Abstract Congenital generalized hypertrichosis, in its most common form, is idiopathic. In the absence of underlying endocrine or metabolic disorders, congenital generalized hypertrichosis is rare in humans, affecting as few as one in a billion individuals and may be an isolated condition of the skin, or a component feature of other disorders or syndromes. Congenital generalized hypertrichosis terminalis is an extremely rare condition, a distinct subset of disorders with congenital hypertrichosis, presenting with excessive hair as the primary clinical feature. Congenital generalized hypertrichosis terminalis is characterized by universal excessive growth of pigmented terminal hair and often accompanied with gingival hyperplasia and/or a coarse face. Gingival hyperplasia may be delayed even until puberty. Its pathogenesis may be caused by one of the following mechanisms: conversion of vellus to terminal hairs and/or prolonged anagenetic stage, and/or increase in the number of hair follicles. Since the Middle Ages, less than 60 individuals with congenital hypertrichosis terminalis have been described, and, according to the most recent estimates, less than 40 cases were documented adequately and definitively in the literature. Recent articles identified congenital generalized hypertrichosis terminalis as a genomic disorder. This report is a follow up of a six-year-old boy born from the first normal pregnancy of non-consanguineous parents, starting from delivery. Our investigation revealed a history of: excessive hair growth and a coarse face from birth; increased body weight with high blood pressure and gingival hyperplasia at the age of four months. The parents denied any medication or chemical intake during pregnancy, as well as a history of hypertrichosis in their families. The child had a congenital hydronephrosis of the right kidney. Ultrasound and magnetic resonance imaging revealed severe congenital hydronephrosis of the right kidney and suspicion of hypertrophy of the left adrenal gland suggestive of an adenoma. The follow up showed normal values of hormones which excluded adrenal tumor. At the age of 8 months the patient underwent right-sided nephrectomy after several urinary infections. The child was admitted again to our Clinic at the age of four years, with generalized hypertrichosis, gingival hyperplasia and a coarse face without any other pathological signs. He has had a normal intellectual development, but was extremely shy, unconfident and dependent on his mother. The relevant laboratory investigations showed normal full blood count, biochemical, hormonal test results and normal function of the single kidney. Molecular chromosome analysis revealed heterozygous deletion on chromosome 17q12 region. Prolonged follow-up with routine checkups every 6–12 months was advised, including regular outpatient appointments particularly with an endocrinologist, because of the risk of diabetes mellitus, and with a nephrologist, for control of renal ","PeriodicalId":30659,"journal":{"name":"Serbian Journal of Dermatology and Venereology","volume":"8 1","pages":"12 - 5"},"PeriodicalIF":0.0,"publicationDate":"2016-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1515/sjdv-2016-0001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67057193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Localized Bullous Pemphigoid on the Site of Knee Arthroplasty: A Case Report 膝关节置换术部位局部大疱性类天疱疮1例
Serbian Journal of Dermatology and Venereology Pub Date : 2016-03-01 DOI: 10.1515/sjdv-2016-0004
Lucija Kosi, J. Perić, M. Pantović, G. Bijelic, Jelica Vukićević Sretenović, D. Škiljević
{"title":"Localized Bullous Pemphigoid on the Site of Knee Arthroplasty: A Case Report","authors":"Lucija Kosi, J. Perić, M. Pantović, G. Bijelic, Jelica Vukićević Sretenović, D. Škiljević","doi":"10.1515/sjdv-2016-0004","DOIUrl":"https://doi.org/10.1515/sjdv-2016-0004","url":null,"abstract":"Abstract Localized bullous pemphigoid is a rare variant of bullous pemphigoid, and its exact etiopathogenesis is yet to be elucidated. We present a case of a 74-year-old Caucasian male with a 3-month history of skin lesions that appeared 9 months after he underwent a knee arthroplasty. Dermatological examination showed several pruritic tense bullae on the right knee, localized around the surgical scar, as well as erosions covered with crusts. The diagnosis of localized bullous pemphigoid was confirmed by direct immunofluorescence test (conventional and split-skin). The patient was treated with potent topical steroids, which led to complete resolution of cutaneous lesions. We suppose that the occurrence of localized bullous pemphigoid in our patient may be explained by the concept of “immunocompromised district” in which one disease (surgery) caused an immunological alteration which is a predisposing factor for the development of secondary disease such as localized bullous pemphigoid.","PeriodicalId":30659,"journal":{"name":"Serbian Journal of Dermatology and Venereology","volume":"8 1","pages":"39 - 44"},"PeriodicalIF":0.0,"publicationDate":"2016-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67057649","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
Extensive Peculiar Cutaneous Form of Neurofibromatosis Type I as a New Mutation - a Case Report I型神经纤维瘤病广泛的特殊皮肤形式为一种新的突变- 1例报告
Serbian Journal of Dermatology and Venereology Pub Date : 2016-03-01 DOI: 10.1515/sjdv-2016-0002
Jagoda Balaban, D. Popović, S. Pavlović
{"title":"Extensive Peculiar Cutaneous Form of Neurofibromatosis Type I as a New Mutation - a Case Report","authors":"Jagoda Balaban, D. Popović, S. Pavlović","doi":"10.1515/sjdv-2016-0002","DOIUrl":"https://doi.org/10.1515/sjdv-2016-0002","url":null,"abstract":"Abstract Neurofibromatosis-1 (NF1) is one of the most common hereditary multisystemic disorders. The disease manifests a variety of characteristic features that include: hyperpigmentary abnormalities of the skin (café-au-lait macules, freckles in the axillae, and iris Lisch nodules) and growth of benign peripheral nerve sheath tumors (neurofibromas) in the skin. Associated extracutaneous clinical features include: skeletal abnormalities, neurological, cardiovascular, endocrine and other malformations. NF1 is caused by mutation in the neurofibromatosis-1 gene, which codes for the protein neurofibromin. The inheritance of NF1 follows an autosomal dominant trait, although about 50% of patients present with new („de novo“) mutations, and represent the first member of their family. No difference in the severity of the disease can be found in patients with familial mutations versus those with new mutations. We present a 78-year-old female patient with an extreme cutaneous form of neurofibromatosis who reported no affected family member. Apart from skin problems, she had no major health issues in childhood and adolescence, but in recent decades she had frequent headaches, occasional abdominal pain, and vision and hearing impairment. About 10 to 14 days before admission, she developed a severe cough, shortness of breath, and chest and abdominal pain. On examination, the patient of short stature (hight: 152 cm, weight: 49 kg) presented with thousands of soft nodules dispersed over the whole body, except on extensor sides of thighs and lower legs; the nodules varied in color from skin-colored, livid erythematous, to brown-grey; the nodules on the abdomen were moist, partly bleeding from the base, and accompanied by an unpleasant odor. Her feet were also densely covered by dark purple lumps, with dystrophic changes of the toe nails that were thickened, frayed, and yellowish. The skeletal abnormalities included: short stature, severe osteoporosis and osteosclerosis of the head bone structure; degenerative arthropathc-spondylotic changes of the thoracolumbar spine segment with signs of diffuse skeletal hyperostosis; pronounced degenerative changes of the lumbar spine. CT scans of the head, chest and abdomen showed the following abnormalities: flattening of the paraventricular gyri and reduction of brain parenchyma with hypodensity of the white matter in terms of cortical atrophy; periventricular bilateral small post-ischemic microvascular brain lesions of varying chronicity; in the parenchyma of the upper left lung lobe the apical presence of small areas of pleural effusion with consequent subatelectic region; distended stomach and a small inner wall herniation; hypotrophic right kidney; atherosclerotic lesions of the abdominal aorta; low grade infrarenal kinking of the abdominal aorta. Pathohistological analysis of biopsy specimen taken from the nodule corresponded with cutaneous neurofibroma. Consultative examinations of various specialists pointed to the e","PeriodicalId":30659,"journal":{"name":"Serbian Journal of Dermatology and Venereology","volume":"8 1","pages":"13 - 27"},"PeriodicalIF":0.0,"publicationDate":"2016-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67058013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Scleromyxedema (Arndt-Gottron Syndrome): a Case Report 硬化性水肿(Arndt-Gottron综合征)1例报告
Serbian Journal of Dermatology and Venereology Pub Date : 2016-03-01 DOI: 10.1515/sjdv-2016-0003
D. Popović, M. Paravina, D. Jovanovic, Vesna Karanikolić, D. Ljubisavljević
{"title":"Scleromyxedema (Arndt-Gottron Syndrome): a Case Report","authors":"D. Popović, M. Paravina, D. Jovanovic, Vesna Karanikolić, D. Ljubisavljević","doi":"10.1515/sjdv-2016-0003","DOIUrl":"https://doi.org/10.1515/sjdv-2016-0003","url":null,"abstract":"Abstract Lichen myxedematosus, also known as papular mucinosis, is a primary diffuse cutaneous mucinosis. It is a rare cutaneous myxedematous condition characterized by formation of numerous lichenoid papules. Scleromyxedema, also known as Arndt–Gottron syndrome, is a rare, confluent, papular and sclerotic variant of lichen myxedematosus, characterized by diffuse thickening of the skin underlying the papules. The condition is associated with systemic, even lethal manifestations, fibroblast proliferation and accumulation of acid mucopolysaccharides of the hyaluronic acid. Serum IgG class paraproteinemia is always present and it can be detected in all patients if appropriate or even repeat testing is used. Herein, we present a 67-year-old patient with a 2-year history of skin problems. He had no health problems other than hypertension and diabetes, wich were both diagnosed 15 years before. On examination, the patient exhibited sclerodermoid lesions with diffuse pseudo-sclerodermatous thickening of the exposed skin, microstomia and sclerodactyly-like changes; on the face, there were numerous solid, shiny 2 - 4 mm in diameter skin-coloured lichenoid papules, scattered across the forehead, glabellar area, nasolabial folds, perioral region, ear lobes and the neck. Histopathological examination revealed: highly distinctive collagenosis and fibrosis in the middle dermis, increased fibroblasts; collagen bundles with irregular arrangement and fragmentation; alcian blue-positive deposits with appearance consistent with acid mucins. Serum protein electrophoresis detected IgG lambda paraproteinemia. The patient was treated with systematic corticosteroids during 9 months with subsequent introduction of methotrexate and showed satisfactory results. The etiology of scleromyxedema remains unknown, since the purified IgG paraprotein itself has no direct effects on fibroblast proliferation. In scleromyxedema, numerous therapeutic modalities are proposed, unfortunatelly with limited effects. In colclusion, we report a case of an adult male with lichenoid papules; after a two-year progression, they evolved into scleromyxedema and exhibited well response to conventional therapy.","PeriodicalId":30659,"journal":{"name":"Serbian Journal of Dermatology and Venereology","volume":"8 1","pages":"28 - 38"},"PeriodicalIF":0.0,"publicationDate":"2016-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1515/sjdv-2016-0003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67058079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Condyloma Latum on the Lower Lip as an Isolated Manifestation of Secondary Syphilis – a Case Report 下唇唇湿疣作为继发性梅毒的孤立表现- 1例报告
Serbian Journal of Dermatology and Venereology Pub Date : 2016-03-01 DOI: 10.1515/sjdv-2016-0005
M. Bjekić, K. Ivanovski
{"title":"Condyloma Latum on the Lower Lip as an Isolated Manifestation of Secondary Syphilis – a Case Report","authors":"M. Bjekić, K. Ivanovski","doi":"10.1515/sjdv-2016-0005","DOIUrl":"https://doi.org/10.1515/sjdv-2016-0005","url":null,"abstract":"Abstract Oral lesions are described in all stages of syphilis, except in the latent stage. During the secondary stage of infection, oral lesions, saliva and blood of infected person are very contagious. The aim of this case report was to point to the secondary syphilis in differential diagnosis of oral diseases. A 30-year-old homosexual man presented with a three-week history of a painless verrucous lesion on his lower lip. Physical examination revealed a hypertrophic painless papillomatous lesion on the lower lip. The lesion was partly split with peripheral fissures. There were no generalized lymphadenopathies and no evidence of systemic disease. Further examination showed no other mucous membrane or cutaneous lesions elsewhere on the body. The external genitalia were normal. The patient was HIV-negative and otherwise healthy. A review of his medical history was significant for previous well documented treatment of anal chancre, which was successfully commenced at our Institute in 2010. It also revealed a history of a single unprotected receptive oral sex with an unknown partner 3 months before the onset of lesion. The diagnosis of condyloma latum on the lower lip was considered on clinical grounds. Laboratory findings, including complete blood count and blood chemistry were within normal limits. The VDRL (venereal disease research laboratory) test was positive with a titre of 1 : 128. Treponema pallidum hemagglutination assay (TPHA) was positive. HIV serology was non-reactive. The final diagnosis of solitary condyloma latum on the lower lip, as the only sign of secondary syphilis, was confirmed by positive results of routine serologic tests for syphilis. The patient was diagnosed with secondary syphilis and treated with a single intramuscular injection of benzathine penicillin, 2.4 million units. The lesion regressed completely within 2 weeks. Three months later the VDRL titer had fallen to 1 : 8 and HIV serology remained negative. Polymorphic oral manifestations in syphilis indicate that this disease should not be overlooked in the differential diagnosis of not only benign, but even malignant oral lesions. In conclusion, as far as the world literature available to us is concerned, this would be the first report of isolated solitary condyloma latum on the oral lip that, in the absence of any other clinical signs or symptoms of the disease, led to the diagnosis of secondary syphilis.","PeriodicalId":30659,"journal":{"name":"Serbian Journal of Dermatology and Venereology","volume":"8 1","pages":"45 - 50"},"PeriodicalIF":0.0,"publicationDate":"2016-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1515/sjdv-2016-0005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67057699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Treatment of Severe Chronic Urticaria: a Retrospective Single Center Analysis of Patients Treated from 2009 – 2016 重度慢性荨麻疹的治疗:2009 - 2016年治疗患者的回顾性单中心分析
Serbian Journal of Dermatology and Venereology Pub Date : 2016-01-01 DOI: 10.1515/sjdv-2016-0018
Tanja Tirnanić, K. Kostić, L. Kandolf Sekulovič, R. Zečević
{"title":"Treatment of Severe Chronic Urticaria: a Retrospective Single Center Analysis of Patients Treated from 2009 – 2016","authors":"Tanja Tirnanić, K. Kostić, L. Kandolf Sekulovič, R. Zečević","doi":"10.1515/sjdv-2016-0018","DOIUrl":"https://doi.org/10.1515/sjdv-2016-0018","url":null,"abstract":"Abstract Chronic urticaria is defined as daily or intermittent appearance of hives for more than 6 weeks. Patients with more severe forms of the disease have increased needs for immune modifying agents for disease control, and among these cyclosporine is the mainstay of treatment. Material and Methods: This retrospective study included patients treated for chronic urticaria from 2009 - 2016 at the Department of Dermatology of the Military Medical Academy. Results: There were 145 treated patients, of whom 20 (13.8%) were resistant to at least two lines of treatment (maximum dose of antihistamine monotherapy, combination of antihistamines, addition of dapsone and short courses of corticosteroids). The patients were treated with cyclosporine (6 males and 14 females; average age 40.05 years). Median duration of treatment was 6 months (range: 2 - 17). In 9 (45%) patients, cyclosporine treatment led to a complete response, in 3 (15%) occasional urticarial plaques developed in spite of treatment, while in 2 (10%) urticaria was resistant to cyclosporine treatment, with continuous disease activity. During the follow-up period, 20% of patients experienced adverse effects. Conclusion: In conclusion, 13.8% of patients were resistant to first-line standard treatment. In these patients, cyclosporine can be regarded as a safe and effective treatment modality, with relatively short course of treatment, but 10% of patients can be regarded as treatment resistant and around 20% experience adverse effects, pointing to the need for further treatment options, including omalizumab.","PeriodicalId":30659,"journal":{"name":"Serbian Journal of Dermatology and Venereology","volume":"8 1","pages":"207 - 212"},"PeriodicalIF":0.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67058517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Primary Cutaneous CD4-Positive Small/Medium Pleomorphic T-cell Lymphoma – A Case Report 原发性皮肤cd4阳性中小多形性t细胞淋巴瘤1例报告
Serbian Journal of Dermatology and Venereology Pub Date : 2016-01-01 DOI: 10.1515/sjdv-2016-0020
Milena Micković, M. Dinić, Tanja Tirnanić, Olga Radić Tasić, T. Terzić, L. Kandolf Sekulovič, A. Mikic
{"title":"Primary Cutaneous CD4-Positive Small/Medium Pleomorphic T-cell Lymphoma – A Case Report","authors":"Milena Micković, M. Dinić, Tanja Tirnanić, Olga Radić Tasić, T. Terzić, L. Kandolf Sekulovič, A. Mikic","doi":"10.1515/sjdv-2016-0020","DOIUrl":"https://doi.org/10.1515/sjdv-2016-0020","url":null,"abstract":"Primary cutaneous CD4-positive smallto medium-sized pleomorphic T-cell lymphoma is a provisional entity in the 2005 WHO-EORTC classification for cutaneous lymphomas. It is a rare condition and, in most cases, it has a favorable clinical course and prognosis. Primary cutaneous CD4-positive small/medium pleomorphic T-cell lymphoma (PCSM-TCL) is defined as a cutaneous T-cell lymphoma with predominantly smallto medium-sized CD4-positive pleomorphic T-cells without a history of patches and plaques typical of mycosis fungoides. PCSM-TCL usually presents as a solitary plaque or tumor on the head, neck, trunk or upper extremities and it is considered to have indolent clinical behavior. Histologically, it is characterized by a dense infiltration of small/medium-sized pleomorphic T-cells that involves the entire dermal thickness, often with nodular extension into the hypodermis. Using immunohistochemical staining, the majority of the reported cases proved to be CD3, CD4 positive and CD8, CD30 negative. However, due to the rarity and heterogeneity of the PCSM-TCL, precise clinicopathologic characteristics of PCSM-TCL have not been well characterized and the optimal treatment for this group of lymphomas is yet to be defined. Dermatologists and pathologists should be aware of this entity in order to avoid unnecessary aggressive treatments. Here we present a 30-year-old man with a solitary lesion on the scalp with histopathological features corresponding to PCSMTCL. After surgical excision, the patient has been disease-free so far, with no additional therapy used to the present day with regular checkups.","PeriodicalId":30659,"journal":{"name":"Serbian Journal of Dermatology and Venereology","volume":"8 1","pages":"221 - 226"},"PeriodicalIF":0.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67058538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Skin Lesions Associated with Dietary Management of Maple Syrup Urine Disease: a Case Report 与枫糖尿病饮食管理相关的皮肤病变1例报告
Serbian Journal of Dermatology and Venereology Pub Date : 2015-12-01 DOI: 10.1515/sjdv-2015-0013
J. Kazandjieva, D. Guleva, A. Nikolova, S. Márina
{"title":"Skin Lesions Associated with Dietary Management of Maple Syrup Urine Disease: a Case Report","authors":"J. Kazandjieva, D. Guleva, A. Nikolova, S. Márina","doi":"10.1515/sjdv-2015-0013","DOIUrl":"https://doi.org/10.1515/sjdv-2015-0013","url":null,"abstract":"Abstract Leucinosis (maple syrup urine disease - MSUD) is an inherited aminoacidopathy and organic aciduria caused by severe enzyme defect in the metabolic pathway of amino acids: leucine, isoleucine, and valine. The classical variant of the disease is characterized by accumulation of both amino and α-keto acids, particulary the most toxic rapid elevation of circulating leucine and its ketoacid, α-ketoisocaproate, which cause encephalopathy and life-threatening brain swelling. However, patients with the most severe form, classical maple syrup urine disease, may appear normal at birth, but develop acute metabolic decompensation within the first weeks of life with typical symptoms: poor feeding, vomiting, poor weight gain, somnolence and burnt sugar-smelling urine, reminiscent of maple syrup. Early diagnosis and dietary intervention improve the patient’s condition, prevent severe complications, and may allow normal intellectual development. We present a 4-month old infant with leucinosis dignosed 3 months earlier, due to elevated levels of amino acids: leucine, isoleucine and valine. The patient was full-term neonate with an uncomplecated delivery, without any family history of metabolic disorder or consanguinity. The infant was referred to a dermatologist, because of maculopapular exanthema on the scalp, trunk, upper and lower extremities, and exfoliative dermatitis of the perioral, particularly anogenital regions, associated with diarrhea. Skin involvement was associated with poor general condition of the infant exhibiting severe hypotension, anemic syndrome, dyspepsia and neurological symptoms. Exanthema developed a few days after the initiation of nutritional therapy for MSUD: isoleucine-, leucine-, and valine-free powdered medical food (MSUD-2) supplemented with iron. Zink levels were within normal ranges. Rapid skin improvement occurred after adequate branched-chain amino acids supplementation was commenced under regular laboratory control (normal zinc serum level with deficiencies of leucine and valine), skin hygiene with antiseptics, emollients and low potent topical corticosteroids. Treatment of acute metabolic decompensation and dietary restriction of branched-chain amino acids are the main aspects in the management of maple syrup urine disease. Common findings in patients with MSUD include: plasma amino acid imbalance, particularly of essential amino acids, failure to thrive attributed to restriction of particular precursor amino acids and natural proteins, micronutrient deficiencies or higher energy requirement due to chronic illness or inflammation. Due to low intake of branched-chain amino acids, some patients develop skin lesions known as acrodermatitis enteropathica-like syndrome. Here we report a case of an infant who developed acrodermatitis enteropathica-like skin eruptions due to branched-chain amino acid deficiency during treatment of maple syrup urine disease. According to available world literature, this is the first report o","PeriodicalId":30659,"journal":{"name":"Serbian Journal of Dermatology and Venereology","volume":"7 1","pages":"153 - 162"},"PeriodicalIF":0.0,"publicationDate":"2015-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1515/sjdv-2015-0013","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67057288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Painless Multidermatomal Herpes Zoster in an Immunocompetent Elderly Male: a Case Report 免疫功能正常的老年男性无痛性多皮肤带状疱疹一例报告
Serbian Journal of Dermatology and Venereology Pub Date : 2015-12-01 DOI: 10.1515/sjdv-2015-0015
S. Ganjoo, M. Sawhney, D. Chawla
{"title":"Painless Multidermatomal Herpes Zoster in an Immunocompetent Elderly Male: a Case Report","authors":"S. Ganjoo, M. Sawhney, D. Chawla","doi":"10.1515/sjdv-2015-0015","DOIUrl":"https://doi.org/10.1515/sjdv-2015-0015","url":null,"abstract":"Abstract The varicella-zoster virus is the cause of both varicella and herpes zoster. The primary infection of varicella includes viremia and a widespread eruption, after which the virus persists in nerve ganglion cells, usually sensory. Herpes zoster is the result of reactivation of this residual latent virus. The first manifestation of zoster is usually pain, which may be severe and accompanied by fever, headache, malaise and tenderness localized to one or more nerve roots. The lymph nodes draining the affected area are enlarged and tender. Occasionally, the pain is not followed by eruption (zoster sine herpete). We hereby report an 85-year-old otherwise healthy male patient with a 3-day history of a non-painful rash on the left side of abdomen, pubic and penile regions, left groin and the left leg. He denied any pain and/or abnormal sensations before the rash onset. On examination, there were closely grouped multiple vesicles over the anterior left abdominal wall, left groin, thigh, knee and left upper quarter of penis, involving the left T12, L1-L4 and S2 dermatomes. The patient reported no pain, fever, rigor or any other symptoms; he had no associated cervical, axillary or inguinal lymphadenopathy. He denied any abdominal pain, nausea, vomiting, any weakness or sensory changes in the limbs. There was no history of penile numbness, urinary retention, and increased frequency of micturition or constipation. The varicella-zoster virus serology test performed by Calbiotech VZV IgG ELISA Kit (Calbiotech, Spring Valley, Canada) was strongly positive. The human immunodeficiency virus serology test, as well as herpes simplex virus type 1 and type 2 serology tests performed by ELISA were all negative. The Tzanck smear, stained with Giemsa, demonstrated multinucleated giant cells. The patient responded well to valacyclovir with complete clearance of lesions within one week. An extensive PubMed search revealed only few reports of painless herpes zoster. We present a rather peculiar case of painless herpes zoster in an elderly patient with no apparent systemic immunosuppression, with severe involvement affecting multiple adjacent and one remote dermatome. We hereby propose the term ”herpes zoster sine algesia” in cases where eruption is not followed by pain.","PeriodicalId":30659,"journal":{"name":"Serbian Journal of Dermatology and Venereology","volume":"7 1","pages":"172 - 180"},"PeriodicalIF":0.0,"publicationDate":"2015-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1515/sjdv-2015-0015","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67057424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
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