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Inherited Conditions (inherited + condition)
Selected AbstractsFamilial Eccrine Spiradenoma: A Case Report and Review of the LiteratureDERMATOLOGIC SURGERY, Issue 4 2003Maryanna C. Ter Poorten MD BACKGROUND Familial eccrine spiradenoma is a rare autosomal dominant condition that is characterized by slow-growing, benign adnexal tumors. OBJECTIVE We investigated a case of familial eccrine spiradenoma displaying an autosomal dominant inheritance pattern. To our knowledge, only two previously reported cases of familial eccrine spiradenoma exist in the literature. METHODS A case report and review of the literature are given. RESULTS We report a case of familial eccrine spiradenoma in a mother and daughter and present successful treatment using surgical extirpation and CO2 laser ablation. CONCLUSION Familial eccrine spiradenoma is a benign autosomal dominantly inherited condition that is characterized by tender, slow-growing, adnexal tumors of the head and neck. Surgical tumor extirpation and CO2 laser ablation offer both an effective symptomatic and cosmetically elegant treatment option. [source] Juvenile hyaline fibromatosis: a case report and review of the literatureINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 11 2004Jean E. Thomas MD Background, Juvenile hyaline fibromatosis (JHF) is a rare, inherited condition characterized by tumor-like growth of hyalinized fibrous tissue on the head and neck, joint contractures, and gingival hypertrophy. There may be marked clinical heterogeneity. Methods, We present a case of a 3-year-old Haitian boy with multiple firm nodules on the scalp and chin without joint contractures or gingival hypertrophy. Family history was not available. Results, Biopsy specimens from three scalp nodules were processed with routine and immunohistochemical stains. The matrix was periodic acid Schiff (PAS) and Alcian blue positive. The cellular stromal component was positive for vimentin and scattered factor XIIIa positive cells were found. Osteoclast-like giant cells were also noted, and stained for CD68. Conclusions, Our patient had the nodular growths on the scalp and face that are characteristically found in JHF. Microscopic examination confirmed the diagnosis and showed scattered intracytoplasmic and extracellular eosinophilic globules in three separate biopsy specimens. These were positive with PAS. [source] Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyriaLIVER TRANSPLANTATION, Issue 9 2008Staffan Wahlin Erythropoietic protoporphyria is an inherited condition characterized by pronounced solar photosensitivity and in a minority of patients severe liver disease that necessitates liver transplantation for survival. Phototoxic injury to abdominal organs and skin has been reported in several cases of liver transplantation surgery, including a few transplants in which protective light filters were used. This study discusses the optimal characteristics of light filters used during liver transplantation surgery. An experimental model is used to evaluate the relative protection of different filters, and the results are compared with theoretical calculations regarding the risk for phototoxic injury from light sources in health-care procedures. Whether protective measures are warranted in other illuminated procedures besides liver transplantation has been discussed often but never studied. This study elucidates the risk for phototoxic injury in endoscopy, laparoscopy, and non,liver transplant surgery. A theoretical model and epidemiological data are considered. Our findings indicate that endoscopy, laparoscopy, and surgical procedures other than liver transplantation are safe in the noncholestatic protoporphyria patient and that general recommendations for using filters in these situations are not warranted. Among the tested filters, a flexible yellow filter omitting wavelengths below 470 nm is recommended for liver transplant surgery. This filter has been readily accepted by surgeons and offers a good balance between protection and altered visual color perception. The experimental model, using hemolysis of protoporphyrin-loaded erythrocytes as a measure of phototoxicity, has substantiated theoretical findings on relative filter protection. Liver Transpl 14:1340,1346, 2008. © 2008 AASLD. [source] Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosisCHILD: CARE, HEALTH AND DEVELOPMENT, Issue 3 2005L. Pastorino Abstract Background, Diagnosis of Nevoid Basal Cell Carcinoma Syndrome (NBCCS) in infants may pose significant challenges to clinicians owing to its variable expressivity and age-related manifestations. Methods, We report two paediatric cases of NBCCS who presented initially with a non-specific phenotype. Results, In case 1, a diagnosis of NBCCS was possible only after the father was interviewed and found to present with two major criteria for the disease. Subsequent molecular testing confirmed the diagnosis. In case 2, molecular testing of the infant and his father had diagnostic value as neither satisfied fully the current diagnostic criteria for NBCCS. Conclusions, Presence of the few clinical manifestations of NBCCS that appear in infants, typically congenital malformations and skeletal abnormalities, should prompt clinicians to conduct in-person interviews with both parents. In general, paediatricians should refer both parents of infants who are suspected of having an inherited condition to clinical geneticists for expert examination, given the potential unreliability of reported medical history. [source] What choices should we be able to make about designer babies?HEALTH EXPECTATIONS, Issue 3 2006A Citizens' Jury of young people in South Wales Abstract Background, Young people will increasingly have the option of using new technologies for reproductive decision making but their voices are rarely heard in debates about acceptable public policy in this area. Capturing the views of young people about potentially esoteric topics, such as genetics, is difficult and methodologically challenging. Design, A Citizens' Jury is a deliberative process that presents a question to a group of ordinary people, allows them to examine evidence given by expert witnesses and personal testimonies and arrive at a verdict. This Citizens' Jury explored designer babies in relation to inherited conditions, saviour siblings and sex selection with young people. Participants, Fourteen young people aged 16,19 in Wales. Results, Acceptance of designer baby technology was purpose-specific; it was perceived by participants to be acceptable for preventing inherited conditions and to create a child to save a sibling, but was not recommended for sex selection. Jurors stated that permission should not depend on parents' age, although some measure of suitability should be assessed. Preventing potential parents from going abroad was considered impractical. These young people felt the Human Fertilisation and Embryology Authority should have members under 20 and that the term ,designer baby' was not useful. Conclusions, Perspectives on the acceptability of this technology were nuanced, and based on implicit value judgements about the extent of individual benefit derived. Young people have valuable and interesting contributions to make to the debate about genetics and reproductive decision making and a variety of innovative methods must be used to secure their involvement in decision-making processes. [source] Familial chronic myeloproliferative disorders: the state of the art,HEMATOLOGICAL ONCOLOGY, Issue 3 2008Elisa Rumi Abstract Familial chronic myeloproliferative disorders are defined when in the same pedigree at least two relatives have a chronic myeloproliferative disorder (CMD) as polycythemia vera (PV), essential thrombocythemia (ET) or primary myelofibrosis (PMF). This condition should be distinguished from inherited disorders with Mendelian transmission and single haematopoietic lineage proliferation, named hereditary erythrocytosis and thrombocytosis. The recently discovered mutations in patients with CMD (V617F and exon 12 of JAK2 gene, MPL gene), and those identified in hereditary erythrocytosis and in hereditary thrombocytosis have improved our ability to discriminate these conditions. In familial CMD, the JAK2 mutations are acquired and occur as secondary genetic events. As both mutations of the JAK2 gene have been reported in the same pedigree, a genetic predisposition to the acquisition of the JAK2 mutations is supposed to be inherited. The prevalence of familial cases within CMD is at least 7.6%. The inheritance pattern of familial CMD is consistent with an autosomal dominant trait with decreased penetrance. The clinical presentation at diagnosis of patients with familial CMD does not differ from that of patients with sporadic CMD. In addition, patients with familial CMD develop the same type of complications (thrombosis and haemorrhage) and disease evolution (post-PV myelofibrosis, post-ET myelofibrosis and leukaemia) observed in patients with sporadic CMD. The 10-year survival is 83% for patients with familial PV, 100% for those with familial ET, and 30% for those with familial PMF. The aim of this review is to focus the state of the art of familial CMD and to offer an overview of inherited conditions causing erythrocytosis and thrombocytosis. Copyright © 2008 John Wiley & Sons, Ltd. [source] Hereditary parkinsonism: Parkinson disease look-alikes,An algorithm for clinicians to "PARK" genes and beyond,,MOVEMENT DISORDERS, Issue 14 2009Christine Klein MD Abstract In the past decade, a number of genetic causes of parkinsonism have been identified. As a consequence, clinicians have to consider an increasing range of differential diagnoses when confronted with a patient with parkinsonism with a positive family history. While well-established monogenic forms with PARK acronyms have been reviewed extensively, less emphasis has been placed on other inherited conditions that may also present with signs of parkinsonism or even mimic idiopathic Parkinson's disease clinically. In this review, we focus on three different scenarios in patients with an overall early age of onset of parkinsonism: (i) atypical features in patients with mutations in one of the "PARK" genes; (ii) classical parkinsonism due to mutations in "other than-PARK" genes or yet other genes where parkinsonism may be a well-recognized, concomitant, or even an isolated feature; (iii) atypical parkinsonism in other genetic disorders which are, however, typically characterized by features other than parkinsonism. Atypical features in patients from Group I include, for example, a slower disease course (PARK2, PARK6, PARK7) or dementia (PARK1/4, PARK14). Conditions in Group II have been designated by a DYT or SCA acronym (for example, DYT5 or SCA3) and also include patients with heterozygous GBA mutations, mitochondrial gene mutations. Group III comprises mutations in the FMR1, MAPT, GRN, ATP7B, PANK2, FBXO7, CHAC, FTL1, Huntingtin, JPH3 genes, and a number of even rarer, miscellaneous conditions. © 2009 Movement Disorder Society [source] Clinical and genetic aspects of distal myopathiesMUSCLE AND NERVE, Issue 11 2001David S. Saperstein MD Abstract Although most muscle disorders produce proximal weakness, some myopathies may manifest predominantly or exclusively distal weakness. Although several congenital, inflammatory, or metabolic myopathies may produce mainly distal weakness, there are several distinct entities, typically referred to as distal myopathies. Most of these are inherited conditions. The distal myopathies are rare, but characteristic clinical and histological features aid in their identification. Advances in molecular genetics have led to the identification of the gene lesions responsible for several of these entities and have also expanded our understanding of the genetic relationships of distal myopathies to other inherited disorders of muscle. This review summarizes current knowledge of the clinical and molecular aspects of the distal myopathies. © 2001 John Wiley & Sons, Inc. Muscle Nerve 24: 1440,1450, 2001 [source] Pathology of inherited conditionsPATHOLOGY INTERNATIONAL, Issue 2004Article first published online: 24 SEP 200 First page of article [source] Diagnosis and management of unusual dental abscesses in childrenAUSTRALIAN DENTAL JOURNAL, Issue 3 2003WK Seow Abstract Although the majority of dental abscesses in children originate from dental caries or trauma, a few are associated with unusual conditions which challenge diagnosis and management. Recent research findings have shed light on these unusual entities and greatly improved understanding of their clinical implications. These conditions include developmental abnormalities such as dens invaginatus in which there is an invagination of dental tissues into the pulp chamber and dens evaginatus in which a tubercle containing pulp is found on the external surface of a tooth crown. In addition, inherited conditions which show abnormal dentine such as dentine dysplasia, dentinogenesis imperfecta, and osteogenesis imperfecta predispose the dentition to abscess formation. Furthermore, ,spontaneous' dental abscesses are frequently encountered in familial hypophosphataemia, also known as vitamin D-resistant rickets, in which there is hypomineralization of dentine and enlargement of the pulp. In addition to developmental conditions, there are also acquired conditions which may cause unusual dental abscesses. These include pre-eruptive intracoronal resorption which was previously known as ,pre-eruptive caries' or the ,fluoride bomb'. In addition, some undiagnosed infections associated with developing teeth are now thought to be the mandibular infected buccal cysts which originate from infection of the developing dental follicles. In the present paper, these relatively unknown entities which cause unusual abscesses in children are reviewed with the aim of updating the general practitioner in their diagnosis and management. [source] 2243: Update on inherited ocular developmental diseaseACTA OPHTHALMOLOGICA, Issue 2010GCM BLACK Purpose To provide an overview of progress in understanding of the genetics of developmental ocular disease. Methods A systematic review, including case presentations, to illustrate insights into genes underlying developmental ocular disorders: Results Studies suggest that, in developed countries, between a third and a half of the diagnoses underlying childhood blind or partial-sighted registration are genetic while a number of other ,non-genetic' conditions also have a substantial genetic contribution. Such a figure is likely to be an underestimate. Although most of these conditions are rare, many of the issues regarding diagnosis and counselling apply to the group as a whole and it is therefore possible to consider a common approach to many aspects of their clinical management. An important challenge, for example, is to improve genetic counselling for patients affected by, and at risk of, disorders that may be caused by a genetic change in one of many possible genes, which typifies many inherited conditions associated with blindness (developmental ocular disorders, early-onset retinal dystrophies, congenital cataract). Most diagnostic genetic testing currently being undertaken focuses on single genes; this will be illustrated for ocular conditions such as retinoblastoma, Norrie disease and microphthalmia. However future prospects will focus upon use of new higher throughput technologies (e.g Microarray technologies). Conclusion The recent identification of genes underlying, for example, anophthalmia/microphthalmia spectrum (e.g. VSX2, SOX2, BCOR), anterior segment dysgenesis (e.g. PITX2, FOXC1, FOXE3) and early,onset retinal disorders (e.g. ADVIRC, RPE65) has shed light on the pathways and processes underlying a range of the biological processes underlying ocular development. [source] | |||||||||||||||||||