A Brief Summary of “Café-au-lait Macules (CALM)” and “Neurofibromatosis Type1.” PDF Download
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Author: Dr. H. K. Saboowala.
Publisher: Dr.Hakim Saboowala
ISBN:
Category : Medical
Languages : en
Pages : 45
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Book Description
A Brief Summary of “Café-au-lait Macules (CALM)” and “Neurofibromatosis Type1.” Cafe-au-lait macules (CALMs) are common pigmented lesions found in the general population. They can be described as well-circumscribed, pigmented macules or patches ranging from light to dark brown. Their size may range from a few millimeters to several centimetres (>20cm) and may appear at birth or early life. Multiple CALMs are often associated with genetic syndromes for which the patient and family members need to be evaluated by an interprofessional team. CALMs are mostly benign and are treated with laser therapy for cosmetic purposes. It is strived in this E-Booklet to discuss the Aetiology, Diagnosis, Outlook, Evaluation and Treatment of cafe-au-lait macules along with relevant cited Images for better understanding. Dr. H. K. Saboowala. M.B.,B.S.(Bom) F.S.A.M.S (Derm) F.S.I.C.D.
Author: Dr. H. K. Saboowala.
Publisher: Dr.Hakim Saboowala
ISBN:
Category : Medical
Languages : en
Pages : 45
Get Book Here
Book Description
A Brief Summary of “Café-au-lait Macules (CALM)” and “Neurofibromatosis Type1.” Cafe-au-lait macules (CALMs) are common pigmented lesions found in the general population. They can be described as well-circumscribed, pigmented macules or patches ranging from light to dark brown. Their size may range from a few millimeters to several centimetres (>20cm) and may appear at birth or early life. Multiple CALMs are often associated with genetic syndromes for which the patient and family members need to be evaluated by an interprofessional team. CALMs are mostly benign and are treated with laser therapy for cosmetic purposes. It is strived in this E-Booklet to discuss the Aetiology, Diagnosis, Outlook, Evaluation and Treatment of cafe-au-lait macules along with relevant cited Images for better understanding. Dr. H. K. Saboowala. M.B.,B.S.(Bom) F.S.A.M.S (Derm) F.S.I.C.D.
Author: Patricia Treadwell
Publisher: Springer Nature
ISBN: 3030586340
Category : Medical
Languages : en
Pages : 112
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Book Description
Valuable to dermatologists, adolescent medicine specialists, family medicine practitioners, and primary care physicians, the Atlas of Adolescent Dermatology presents a concise and practical guide to the diagnosis and management of adolescent skin diseases. Each chapter follows a similar format, to assist in ease of reference, and contains information on diagnosis and management. The various chapters include conditions such as Acne, Seborrheic Dermatitis, Eczema, Scabies, Contact Dermatitis, and selected Genodermatoses.
Author: Gianluca Tadini
Publisher: Springer Nature
ISBN: 3319924508
Category : Medical
Languages : en
Pages : 316
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Book Description
This volume offers an update of the clinical signs, diagnostic criteria (including molecular diagnosis) and targeted therapies for a particular type of genodermatosis, providing a handy and unique tool for early diagnosis. In recent years, our understanding of genodermatosis and neurocutaneous syndromes has increased, but although Type 1 Neurofibromatosis (NF1) is the most common neuroectodermal disorder and involves a large number of patients and medical disciplines, this syndrome remains underestimated, often misdiagnosed thus leading to inaccurate treatment. The literature on the molecular and pathogenetic aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment. As such, a chapter is devoted renewing current diagnostic criteria; it includes clinical and molecular data, to offer a sound, updated discussion basis for a consensus conference. NF1 is a “time-dependent” disorder, meaning that the onset of clinical signs are closely linked to patient age and the book discusses this particularly neglected aspect extensively, as well as the latest molecular diagnosis techniques, which are highly sensitive have not been included in the diagnostic criteria. It also explains the role of the RAS-MAPK pathway and genotype-phenotype correlations. In addition it explores new concepts concerning the pathogenesis of neurofibromas and other hamarthomas and their relevance for a modern therapeutical approach with targeted molecular drugs, as well as newly discovered aspects of NF1 in all internal organs, together with their diagnostic counterparts. A chapter on mosaic neurofibromatosis is also included. There is a particular focus on differential diagnosis (i.e. other diseases with café-au-lait macules), and the recently described Legius syndrome will be presented directly by Prof Eric Legius. All chapters are easy-to-understand, up-to-date, comprehensive and concise tools and are intended for a wide range of professionals involved with genetic disorders of the skin and neurocutaneous diseases: dermatologists, pediatricians, neurologists, oncologists and general practitioners.
Author: Meena Upadhyaya
Publisher: Springer Science & Business Media
ISBN: 3642328644
Category : Medical
Languages : en
Pages : 711
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Book Description
Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour predisposition syndrome. Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.
Author: Amanda Oakley
Publisher: Scion Publishing Ltd
ISBN: 1911510118
Category : Medical
Languages : en
Pages : 438
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Book Description
A concise overview of the common dermatological conditions most likely to present in general medicine From reviews: "... a perfect solution to the constant struggle that dermatology diagnosis presents to primary care physicians and other providers... This well-formatted book covers a vast array of topics ranging from common to rare skin disorders. The pictures are immensely helpful in the understanding of various skin rashes...." Fam Med 2019;51(5):451–452. “... easy to read and informative. One cannot emphasise enough the quality and comprehensive nature of the photographic content.... As someone who was interested in dermatology even as a medical student my only regret is that this book was not around when I was a student as it would have very adequately guided me into my beloved subspecialty.” Ulster Med J 2017;86(3):1–1. “The introduction outlines dermatological conditions by symptom, morphology and body site, providing an excellent index prior to delving into greater detail in the following chapters. The logical approach and level of detail make this text perfect for medical students, interns/residents, primary care physicians and other specialists who wish to quickly identify differential diagnoses or refresh their knowledge of dermatological conditions.” A Lecturer in Dermatology Dermatology Made Easy is based on the hugely popular DermNet New Zealand website and is designed to help GPs, medical students and dermatologists diagnose skin conditions with confidence. The book starts by providing a series of comprehensive tables, complete with over 500 thumbnail photos, to aid diagnosis according to symptoms, morphology, or body site. Once you have narrowed down the diagnosis, cross-references then guide you to more detailed descriptions, and another 700 photographs, covering: common infections inflammatory rashes non-inflammatory conditions skin lesions Every section provides consistent information on the disorder: who gets it and what causes it? what are the clinical features and does it cause any complications? how do you diagnose it? how do you treat it and how long does it take to resolve? The book concludes with a comprehensive section on further investigations and treatment options. Dermatology Made Easy combines the essential focus of the Made Easy book series with the authority and knowledge base of DermNet New Zealand’s unparalleled resources. Printed in full colour throughout.
Author: Elias I. Traboulsi
Publisher: OUP USA
ISBN: 0195326148
Category : Medical
Languages : en
Pages : 940
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Book Description
This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist.
Author: Vincent Liu
Publisher: Springer Nature
ISBN: 3030534375
Category : Medical
Languages : en
Pages : 389
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Book Description
This book provides clinicians, clinicians-in-training and researchers with a unique rapid-access educational resource on the spectrum of issues at the intersection of skin and malignancy. In it, there is clinical detail provided on how the skin reveals systemic malignancy via cutaneous metastases, genodermatoses or paraneoplastic dermatoses. At the same time, it reviews pharmacologic treatment of internal malignancy and how this can result in cutaneous adverse reactions; conversely, therapeutics for skin conditions can increase risk for internal malignancy. As arguably the most significant cutaneous malignancy, melanoma receives specific attention for its metastatic potential, current diagnostic advances, and recent therapeutic breakthroughs. Dermato-Oncology Study Guide: Essential Text and Review serves a critical educational need for clinicians caring for patients with systemic malignancy by creating an easy-to-use resource that provides practical tools to recognize skin signs of internal malignancy. Furthermore it helps in anticipating and managing adverse reactions of therapeutics for systemic malignancy, and gives the reader the opportunity to weigh the risks of malignancy of pharmacologic agents for skin disease.
Author: Bruce R. Korf
Publisher: Thieme
ISBN: 1604065133
Category : Medical
Languages : en
Pages : 268
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Book Description
Here is the state-of-the-art on recognizing, managing and living with neurofibromatosis (NF) for patients, families, and health care professionals. From new genetic and diagnostic advances, to associated cardiovascular and endocrine abnormalities, to the significant psychosocial impact of NF, the book is packed with clear, practical guidance for understanding and living with this disability.Special features: A complete diagnostic guide to help you recognize NF-related symptoms--with a timeline for when they might appear New treatment options for NF, including pain control Coverage of the newly discovered form of NF, schwannomatosis Personal perspectives from NF patients and their families Glossary that defines medical terminology With the great diagnostic and treatment advances achieved in the last decade, and research proceeding rapidly, the future for patients with NF has never been brighter. For all individuals living with the challenges of this disability, the book brings you to the forefront of medical knowledge. Make sure it is within close reach for fast and easy reference.
Author: Paolo Curatolo
Publisher: John Libbey Eurotext
ISBN: 2742006095
Category : Medical
Languages : en
Pages : 247
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Book Description
Neurocutaneous Syndromes unify a group of rare neurological disorders in which the initial identification depends on simple visual disgnosis. They include a large group of neurological disorders which feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, mental retardation, seizures and psychiatric problems. In the last few years, our knowledge of neurocutaneous syndromes has increased substantially. The aim of this volume is to provide an updated developmental perspective on these multifaceted conditions and to review their major clinical features, in particular their embryological basis, clinical molecular genetics, diagnostic protocols and novel therapeutic approaches.
Author: Sunil Kothiwala
Publisher: Springer Nature
ISBN: 303022757X
Category : Medical
Languages : en
Pages : 199
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Book Description
This book provides a guide to the diagnosis and management of melanocyte disorders. Clinical cases are presented to illustrate the treatment of both common and unusual conditions, as well as best practice techniques. Patient management options are discussed in relation to melanocyte senescence, hypermelanotic disorders, hypomelanotic disorders, reticulate pigmentation, benign melanocytic nevi, and malignant melanocytic proliferation. Clinical Cases in Disorders of Melanocytes aims to aid clinical decision making and the recognition of subtle symptoms and is relevant to trainees and clinicians working within dermatology.
