Books: 'Hereditary Syndromes'

1

Jatoi, Ismail. Hereditary cancer syndromes. Philadelphia: Saunders, 2008.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

2

Gorlin, Robert J. Hereditary hearing loss and its syndromes. New York: Oxford University Press, 1995.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

3

Familial and hereditary tumors. Berlin: Springer-Verlag, 1994.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

4

Inherited cancer syndromes: Current clinical management. 2nd ed. New York: Springer, 2011.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

5

Ho, Chuong. Molecular diagnosis for hereditary cancer predisposing syndromes: Genetic testing and clinical impact. Ottawa: Canadian Coordinating Office for Health Technology Assessment, 2003.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

6

service), Wiley InterScience (Online, ed. Hereditary tumors: From genes to clinical consequences. Weinheim: Wiley-VCH, 2009.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

7

Genetics in anesthesiology: Syndromes and science. Boston: Butterworth-Heinemann, 1996.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

8

E, O'Flaherty Jennifer, ed. Anesthesia for genetic, metabolic, and dysmorphic syndromes of childhood. Philadelphia: Lippincott Williams & Wilkins, 1999.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

9

E, O'Flaherty Jennifer, ed. Anesthesia for genetic, metabolic, and dysmorphic syndromes of childhood. 2nd ed. Philadelphia, PA: Lippincott Williams & Wilkins, 2007.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

10

Hodgson, S. V. A practical guide to human cancer genetics. Cambridge [England]: Cambridge University Press, 1993.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

11

Genetic Disorders Sourcebook: Basic Consumer Health Information About Hereditary Diseases and Disorders, Including Cystic Fibrosis, Down Syndrome, Hemophilia, ... Disease (Health Reference Series). 2nd ed. Detroit, Mich.: Omnigraphics, 2000.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

12

Burke, Carol. Hereditary Colorectal Cancer Syndromes. Blackwell Publishing, Incorporated, 2007.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

13

V, Toriello Helga, Reardon William 1960-, Gorlin Robert J. 1923-, and Gorlin Robert J. 1923-, eds. Hereditary hearing loss and its syndromes. 2nd ed. Oxford: Oxford University Press, 2004.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

14

Hereditary Hearing Loss and Its Syndromes. Oxford University Press, Incorporated, 2013.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

15

Bianchi-Scarra, Giovanna. Hereditary Cancer Syndromes (Methods in Molecular Medicine). Humana Press, 2008.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

16

Geha, Raif, and FRED Rosen. Case Studies in Immunology: Hereditary Periodic Fever Syndromes. W.W. Norton & Company, 2010. http://dx.doi.org/10.4324/9780203853481.

Full text

APA, Harvard, Vancouver, ISO, and other styles

17

Neri, Giovanni, Luigi Boccuto, and Roger E. Stevenson, eds. Overgrowth Syndromes. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780190944896.001.0001.

Full text

Abstract:

This book provides comprehensive details on a number of well-defined genetic disorders and a selection of less well-defined entities that include somatic overgrowth as a major manifestation. In addition to overgrowth, these syndromes each have their own distinguishing characteristics that benefit the clinician in making a specific diagnosis. In most cases, the causative genes are known, giving a means of laboratory confirmation of the diagnoses. A major distinction from other hereditary syndromes is a predisposition of patients with the overgrowth syndromes to develop neoplasms during childhood. In some cases, the overgrowth seems to be limited, even to the extent that some growth parameters may return to the normal range by adulthood. In other cases, the overgrowth is notable throughout life. In recent years, both the generalized and the segmental overgrowth syndromes have begun to yield their secrets to molecular technologies. These studies have provided clinicians a way to confirm the specific diagnosis so they can provide appropriate counseling and anticipatory management. In the case of segmental overgrowth disorders, they have also established their mosaic nature, which explains the sporadic occurrence and marked phenotype variability.

APA, Harvard, Vancouver, ISO, and other styles

18

Inherited Cancer Syndromes: Current Clinical Management. Springer, 2003.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

19

Geha, Raif, and Fred Rosen. Case Studies in Immunology : Hereditary Periodic Fever Syndromes: A Clinical Companion. Norton & Company, Incorporated, W. W., 2010.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

20

Geha, Raif, and Fred Rosen. Case Studies in Immunology : Hereditary Periodic Fever Syndromes: A Clinical Companion. Norton & Company, Incorporated, W. W., 2010.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

21

Geha, Raif, and Fred Rosen. Case Studies in Immunology : Hereditary Periodic Fever Syndromes: A Clinical Companion. Norton & Company, Incorporated, W. W., 2010.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

22

Geha, Raif, and Fred Rosen. Case Studies in Immunology : Hereditary Periodic Fever Syndromes: A Clinical Companion. Norton & Company, Incorporated, W. W., 2010.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

23

Genetic syndromes in communication disorders. Austin, Tex: Pro-Ed, 1991.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

24

Corso, Giovanni, and Franco Roviello. Spotlight on Familial and Hereditary Gastric Cancer. Springer, 2013.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

25

Corso, Giovanni, and Franco Roviello. Spotlight on Familial and Hereditary Gastric Cancer. Springer, 2014.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

26

Spotlight on Familial and Hereditary Gastric Cancer. Springer, 2013.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

27

Sybert, Virginia P. Disorders of the Dermis. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780195397666.003.0005.

Full text

Abstract:

Collagen – Ainhum – Amniotic Bands – Buschke-Ollendorff Syndrome – Dermatosparaxis – Ehlers-Danlos Syndromes – Ehlers-Danlos Types I, II, and III – Ehlers-Danlos Type IV – Ehlers-Danlos Type VI – Ehlers-Danlos Type VIII – Reactive Perforating Collagenosis – Elastin – Costello Syndrome – Cutis Laxa – Pseudoxanthoma Elasticum – Vascular – Ataxia Telangiectasia – Blue Rubber Bleb Nevus Syndrome – Cutis Marmorata Telangiectatica Congenita – Fabry Syndrome – Familial Flame Nevi – Hereditary Glomus Tumors – Hereditary Hemorrhagic Telangiectasia – Klippel-Trenaunay-Weber Syndrome – Maffucci Syndrome – Sturge-Weber Syndrome – Mixed – Aplasia Cutis Congenita – Focal Dermal Hypoplasia – Tuberous Sclerosis – Other Disorders of the Dermis – Albright Hereditary Osteodystrophy – Cutis Verticis Gyrata – Familial Dysautonomia – François Syndrome – Lipoid Proteinosis – Multiple Pterygia – Systemic Hyalinosis

APA, Harvard, Vancouver, ISO, and other styles

28

Hereditary Hearing Loss and Its Syndromes (Oxford Monographs on Medical Genetics, No. 50). Oxford University Press, USA, 2004.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

29

H, Lu Karen, ed. Hereditary gynecologic cancer: Risk, prevention, and management. New York: Informa Healthcare, 2008.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

30

Hereditary Gynecologic Cancer: Risk, Prevention and Management. Informa Healthcare, 2008.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

31

Sybert, Virginia P. Disorders of the Dermis. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190276478.003.0005.

Full text

Abstract:

Chapter 5 covers Collagen disorders (Ainhum, Amniotic Bands, Buschke-Ollendorff Syndrome, Dermatosparaxis), Ehlers-Danlos Syndromes (Ehlers-Danlos Types I, II, and III, Ehlers-Danlos Type IV, Ehlers-Danlos Type VI, Ehlers-Danlos Type VIII, and Reactive Perforating Collagenosis), Elastin (Costello Syndrome, Cutis Laxa, and Pseudoxanthoma Elasticum), Vascular disorders (Ataxia Telangiectasia, Cutis Marmorata Telangiectatica Congenita, Fabry Syndrome, Familial Flame Nevi, Hereditary Glomus Tumors, Hereditary Hemorrhagic Telangiectasia, Klippel-Trenaunay-Weber Syndrome, Maffucci Syndrome, and Sturge-Weber Syndrome, and Multiple Cutaneous and Mucosal Venous Malformations), Mixed disorders (Aplasia Cutis Congenita, Focal Dermal Hypoplasia, Tuberous Sclerosis Complex), and other Disorders of the Dermis (Albright Hereditary Osteodystrophy, Cutis Verticis Gyrata, Familial Dysautonomia, François Syndrome, Hyaline Fibromatosis Syndrome, Lipoid Proteinosis, and Multiple Pterygia). Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

APA, Harvard, Vancouver, ISO, and other styles

32

Jafri, Mariam, and Eamonn R. Maher. Genetics and molecular biology of renal cancer. Edited by James W. F. Catto. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199659579.003.0084.

Full text

Abstract:

Renal cell carcinoma (RCC) is the exemplar of how the understanding of the molecular pathogenesis of rare inherited disorders can inform an understanding of the key pathways involved in the pathogenesis of sporadic cancer. In this chapter we describe the clinical and pathological features of the inherited kidney cancer syndromes: von Hippel Lindau disease (VHL); Birt-Hogg-Dube syndrome; hereditary leiomyomatosis and renal cancer syndrome; succinate dehydrogenase disorders; hereditary papillary renal cancer; and translocation-associated kidney cancer. Though individually rare, recognition of individuals with familial kidney cancer is important as they present specific clinical challenges to the urological surgeon because of their propensity to develop multicentric/bilateral tumours. Furthermore, different familial RCC predisposition syndromes are associated with different extra renal clinical features and have specific surveillance needs. Despite differences in clinical features, there is some overlap in the molecular pathophysiology between the disorders and these highlight the key signalling pathways for RCC oncogenesis.

APA, Harvard, Vancouver, ISO, and other styles

33

Paganoni, Sabrina, and Nazem Atassi. Upper Motor Neuron Disorders Hereditary Spastic Paraplegia and Primary Lateral Sclerosis. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0032.

Full text

Abstract:

Upper motor neuron (UMN) syndromes are a group of rare, degenerative neurological disorders that are classified as either hereditary spastic paraplegia (HSP) or primary lateral sclerosis (PLS). Our understanding of their underlying pathophysiology is unfortunately very limited and has been a significant barrier to the development of disease-modifying treatments. Recent advances in genetics and in vitro and in vivo disease modeling have provided new insights into disease mechanisms and hold the promise to lead to the future development of mechanism-based therapies.

APA, Harvard, Vancouver, ISO, and other styles

34

(Editor), H. Leon Bradlow, Jack Fishman (Editor), and Michael P. Osborne (Editor), eds. Cancer: Genetics and the Environment (Annals of the New York Academy of Sciences). New York Academy of Sciences, 1998.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

35

Leon, Bradlow H., Fishman Jack 1930-, and Osborne Michael P, eds. Cancer: Genetics and the environment. New York, N.Y: New York Academy of Sciences, 1997.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

36

Cancer: Genetics and the Environment (Annals of the New York Academy of Sciences, V. 833). New York Academy of Sciences, 1998.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

37

Baum, Victor C., and Jennifer E. O'Flaherty. Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood. Lippincott Williams & Wilkins, 2015.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

38

Baum, Victor C., and Jennifer E. O'Flaherty. Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood. 2nd ed. Lippincott Williams & Wilkins, 2006.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

39

Clunie, Gavin P. R., Nick Wilkinson, Elena Nikiphorou, and Deepak Jadon, eds. Oxford Handbook of Rheumatology. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198728252.001.0001.

Full text

Abstract:

The Oxford Handbook of Rheumatology, 4th edition, has been expanded and improved to incorporate paediatric and adolescent rheumatology. The format of the book is retained. The first four chapters offer a pragmatic guide to evaluating rheumatic and musculoskeletal diseases, showing how a differential diagnosis can be formed on the basis of symptoms, examination, and investigation findings, both for regional musculoskeletal and systemic generalized conditions. Part II comprises chapters on all the major rheumatic and bone diseases and autoimmune connective tissue diseases, such as rheumatoid arthritis, osteoarthritis, spondyloarthritis, systemic lupus erythematosus (lupus), crystal-induced musculoskeletal disease, juvenile idiopathic arthritis, antiphospholipid syndrome, Sjögren’s syndrome, osteoporosis, vasculitis, spinal disorders and back pain, and chronic pain syndromes, as well as new chapters on rare diseases and hereditary disorders. Part II includes chapters on drugs used in rheumatology practice, glucocorticoid injection therapy, and rheumatological emergencies. All chapters are updated to include details on paediatric and adolescent rheumatology, dealt with fairly cursorily in previous Handbook editions. Greatly expanded chapters are included on drugs used in rheumatology, pain syndromes, and the presentation of paediatric and adolescent disease.

APA, Harvard, Vancouver, ISO, and other styles

40

Provan, Drew, Trevor Baglin, Inderjeet Dokal, and Johannes de Vos. Red cell disorders. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199683307.003.0002.

Full text

Abstract:

The peripheral blood film in anaemias - Anaemia in renal disease - Anaemia in endocrine disease - Anaemia in joint disease - Anaemia in gastrointestinal disease - Anaemia in liver disease - Iron (Fe) deficiency anaemia - Vitamin B12 deficiency - Folate deficiency - Other causes of megaloblastic anaemia - Anaemia in other deficiency states - Haemolytic syndromes - Genetic control of haemoglobin production - Sickling disorders - HbS—sickle-modifying therapies - Sickle cell trait (HbAS) - Other sickling disorders - Other haemoglobinopathies - Unstable haemoglobins - Thalassaemias - α thalassaemia - β thalassaemia - Other thalassaemias - Hereditary persistence of fetal haemoglobin - Hb patterns in haemoglobin disorders - Non-immune haemolysis - Hereditary spherocytosis - Hereditary elliptocytosis - Glucose-6-phosphate dehydrogenase (G6PD) deficiency - Pyruvate kinase deficiency - Other red cell enzymopathies - Drug-induced haemolytic anaemia - Methaemoglobinaemia - Microangiopathic haemolytic anaemia - Acanthocytosis - Autoimmune haemolytic anaemia - Cold haemagglutinin disease - Leucoerythroblastic anaemia - Aplastic anaemia - Paroxysmal nocturnal haemoglobinuria - Pure red cell aplasia - Iron (Fe) overload - Transfusion haemosiderosis

APA, Harvard, Vancouver, ISO, and other styles

41

Provan, Drew, Trevor Baglin, Inderjeet Dokal, Johannes de Vos, Banu Kaya, and Angela Theodoulou. Red cell disorders. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199683307.003.0002_update_001.

Full text

Abstract:

The peripheral blood film in anaemias - Anaemia in renal disease - Anaemia in endocrine disease - Anaemia in joint disease - Anaemia in gastrointestinal disease - Anaemia in liver disease - Iron (Fe) deficiency anaemia - Vitamin B12 deficiency - Folate deficiency - Other causes of megaloblastic anaemia - Anaemia in other deficiency states - Haemolytic syndromes - Genetic control of haemoglobin production - Sickling disorders - HbS—sickle-modifying therapies - Sickle cell trait (HbAS) - Other sickling disorders - Other haemoglobinopathies - Unstable haemoglobins - Thalassaemias - α‎ thalassaemia - β‎ thalassaemia - Other thalassaemias - Hereditary persistence of fetal haemoglobin - Hb patterns in haemoglobin disorders - Non-immune haemolysis - Hereditary spherocytosis - Hereditary elliptocytosis - Glucose-6-phosphate dehydrogenase (G6PD) deficiency - Pyruvate kinase deficiency - Other red cell enzymopathies - Drug-induced haemolytic anaemia - Methaemoglobinaemia - Microangiopathic haemolytic anaemia - Acanthocytosis - Autoimmune haemolytic anaemia - Cold haemagglutinin disease - Leucoerythroblastic anaemia - Aplastic anaemia - Paroxysmal nocturnal haemoglobinuria - Pure red cell aplasia - Iron (Fe) overload - Transfusion haemosiderosis

APA, Harvard, Vancouver, ISO, and other styles

42

Bergmann, Carsten, Nadina Ortiz-Brüchle, Valeska Frank, and Klaus Zerres. The child with renal cysts. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0305.

Full text

Abstract:

Renal cysts of different aetiology are a common diagnosis in paediatric nephrology. The classification is usually based on the clinical picture, morphology, and family history. In syndromic forms, additional features have to be evaluated. Most common are cystic dysplastic kidneys with a broad phenotypic spectrum ranging from asymptomatic clinical courses in unilateral cases to severe, lethal manifestations in patients with considerable bilateral involvement. Simple cysts are rare. Polycystic kidneys are usually subdivided according to the mode of inheritance into autosomal recessive and autosomal dominant polycystic kidney disease. The most useful investigation in order to distinguish between these two types is the family history with parental ultrasound and demonstration of polycystic kidneys in one parent in the majority of cases with dominant polycystic kidney disease. Finally, cystic kidneys are associated with a variety of hereditary, usually recessive syndromes affecting cilia.

APA, Harvard, Vancouver, ISO, and other styles

43

V, Hodgson S., ed. A practical guide to human cancer genetics. 3rd ed. Cambridge: Cambridge University Press, 2007.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

44

Hodgson, Shirley, William Foulkes, Charis Eng, and Eamonn Maher. A Practical Guide to Human Cancer Genetics. 3rd ed. Cambridge University Press, 2006.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

45

Sybert, Virginia P. Disorders of The Epidermis: Differentiation and Kinetics. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780195397666.003.0002.

Full text

Abstract:

Ichthyoses – Bullous Congenital Ichthyosiform Erythroderma – Continual Peeling Skin – Harlequin Fetus – Ichthyosis Bullosa of Siemens – Ichthyosis Hystrix – Ichthyosis Vulgaris – Lamellar Exfoliation of the Newborn – Lamellar Ichthyosis/Nonbullous Congenital Ichthyosiform Erythroderma – Netherton Syndrome – Restrictive Dermopathy – X-linked Recessive Ichthyosis – Erythrokeratodermas – Erythrokeratodermia Variabilis – Pityriasis Rubra Pilaris – Progressive Symmetric Erythrokeratoderma – Acrokeratoderma – Acrokeratoelastoidosis – Acrokeratosis Verruciformis (HOPF) – Hereditary Palmoplantar Keratodermas – Hereditary Palmoplantar Keratoderma with Deafness – Hereditary Palmoplantar Keratoderma Epidermolytic Hyperkeratosis – Hereditary Palmoplantar Keratoderma Howel-Evans – Hereditary Palmoplantar Keratoderma Olmsted – Hereditary Palmoplantar Keratoderma Punctate – Hereditary Palmoplantar Keratoderma Striata – Hereditary Palmoplantar Keratoderma Unna-Thost – Hereditary Palmoplantar Keratoderma Vohwinkel – Keratolytic Winter Erythema – Mal de Meleda – Papillon-Lefèvre – Scleroatrophic and Keratotic Dermatosis of the Limbs – Porokeratoses – Porokeratosis of Mibelli – Other Disorders of the Epidermis – Absence of Dermatoglyphics – Acanthosis Nigricans – Darier-White Disease – Hereditary Painful Callosities – Keratosis Follicularis Spinulosa Decalvans – Knuckle Pads – Kyrle/Flegel Disease – Ulerythema Ophryogenes – Syndromic Disorders – CHILD Syndrome – Chondrodysplasia Punctata – Ichthyosis with Hypogonadism – KID Syndrome – Neu-Laxova Syndrome – Neutral Lipid Storage Disease with Ichthyosis – Refsum Disease – Richner-Hanhart Syndrome – Sjögren-Larsson Syndrome – Cohesion – Epidermolysis Bullosa – Epidermolysis Bullosa Simplex Dowling-Meara – Epidermolysis Bullosa Simplex Generalized – Epidermolysis Bullosa Simplex Localized – Epidermolysis Bullosa Junctional Generalized – Epidermolysis Bullosa Junctional Generalized Atrophic Benign – Epidermolysis Bullosa Dystrophica Cockayne-Touraine – Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens – Epidermolysis Bullosa Dystrophica Pretibial – Transient Bullous Dermolysis of the Newborn – Hailey-Hailey Disease

APA, Harvard, Vancouver, ISO, and other styles

46

Sybert, Virginia P. Disorders of the Epidermis. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190276478.003.0002.

Full text

Abstract:

Chapter 2 covers Ichthyoses (Bullous Congenital Ichthyosiform Erythroderma, Harlequin Ichthyosis, Ichthyosis Bullosa of Siemens, Ichthyosis Hystrix, Ichthyosis Vulgaris, Lamellar Exfoliation of the Newborn, Lamellar Ichthyosis/Nonbullous Congenital Ichthyosiform Erythroderma, Netherton Syndrome, Peeling Skin Syndrome, Restrictive Dermopathy, and X-linked Recessive Ichthyosis), Erythrokeratodermas (Erythrokeratodermia Variabilis ET PROGESSIVA, and Pityriasis Rubra Pilaris), Acrokeratoderma (Acrokeratoelastoidosis, Acrokeratosis Verruciformis (HOPF)), Hereditary Palmoplantar Keratodermas (Hereditary Palmoplantar Keratoderma with Deafness, Hereditary Palmoplantar Keratoderma Epidermolytic Hyperkeratosis, Hereditary Palmoplantar Keratoderma Howel-Evans, Hereditary Palmoplantar Keratoderma Olmsted, Hereditary Palmoplantar Keratoderma Punctate, Hereditary Palmoplantar Keratoderma Striata, Hereditary Palmoplantar Keratoderma Unna-Thost, Hereditary Palmoplantar Keratoderma Vohwinkel, Keratolytic Winter Erythema, Mal de Meleda, Papillon-Lefèvre, Scleroatrophic and Keratotic Dermatosis of the Limbs), Porokeratoses (Porokeratosis of Mibelli), Other Disorders of the Epidermis (Absence of Dermatoglyphics, Acanthosis Nigricans, Darier-White Disease, Hereditary Painful Callosities, Keratosis Follicularis Spinulosa Decalvans, Knuckle Pads, Kyrle/Flegel Disease, Ulerythema Ophryogenes), Syndromic Disorders (CHILD Syndrome, Chondrodysplasia Punctata, Ichthyosis with Hypogonadism, KID Syndrome, Neu-Laxova Syndrome, Neutral Lipid Storage Disease with Ichthyosis, Refsum Disease, Richner-Hanhart Syndrome, Sjögren-Larsson Syndrome), Cohesion (Epidermolysis Bullosa, Epidermolysis Bullosa Simplex Dowling-Meara, Epidermolysis Bullosa Simplex Generalized, Epidermolysis Bullosa Simplex Localized, Epidermolysis Bullosa Junctional Generalized, Epidermolysis Bullosa Junctional Generalized Atrophic Benign, Epidermolysis Bullosa Dystrophica Cockayne-Touraine, Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens, Epidermolysis Bullosa Dystrophica Pretibial, Transient Bullous Dermolysis of the Newborn, Hailey-Hailey Disease). Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

APA, Harvard, Vancouver, ISO, and other styles

47

Shaibani, Aziz. Skin Signs. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0027.

Full text

Abstract:

Many neuromuscular diseases are expressed by skin manifestations such as dermatomyositis. Skin changes of dermatomyositis are of many types and can be subtle in dark skin. Skin rash may be the only finding in dermatomyositis (amyopathic dermatomyositis). Many systemic inflammatory diseases are associated with skin lesions and neuromuscular involvement such as vasculitis, SLE, and scleroderma. Steroids may lead to acne-like skin lesions that should be differentiated from the rash of the underlying disease. Since the skin and nervous system are both ectodermal in origin, many hereditary and congenital disorders affect both (neurocutaneous syndromes). This chapter provides examples of skin signs that are associated with neuromuscular diseases.

APA, Harvard, Vancouver, ISO, and other styles

48

Carton, James. Haematopathology. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198759584.003.0015.

Full text

Abstract:

This chapter discusses haematopathology, including iron deficiency anaemia, anaemia of chronic disease, megaloblastic anaemias, hereditary spherocytosis, glucose-6-phosphate dehydrogenase deficiency, thalassaemias, sickle-cell disorders, idiopathic thrombocytopenic purpura (ITP), thrombotic thrombocytopenic purpura (TTP), von Willebrand disease, haemophilia, thrombophilia, acute B-lymphoblastic leukaemia, acute myeloid leukaemias, chronic lymphocytic leukaemia (CLL), chronic myelogenous leukaemia, polycythaemia vera (PV), essential thrombocythaemia (ET), primary myelofibrosis (PMF), myelodysplastic syndromes (MDS), follicular lymphoma, diffuse large B-cell lymphoma, Burkitt’s lymphoma (BL), extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma), mantle cell lymphoma, classical Hodgkin’s lymphoma (cHL), lymphoplasmacytic lymphoma (LPL), plasma cell myeloma, primary amyloidosis, and mature T-cell non-Hodgkin’s lymphomas.

APA, Harvard, Vancouver, ISO, and other styles

49

T, Lynch Henry, and Fusaro Ramon M, eds. Hereditary malignant melanoma. Boca Raton: CRC Press, 1991.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

50

Beebe-Dimmer, Jennifer L., Fawn D. Vigneau, and David Schottenfeld. Small Intestine Cancer. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0035.

Full text

Abstract:

The small intestine extends 6–7 meters from the gastric pylorus to its insertion into the large intestine. Its mucosal surface contains 90% of the absorptive surface area of the digestive tract. Remarkably, in 2015, only about 3% of digestive system cancers and less than 1% of digestive cancer deaths in the United States were observed in the small intestine. In contrast, approximately 50% of cancers in the digestive tract were diagnosed in the large intestine, which measures just 1.5 meters in length. Cancers of the small intestine are among the most heterogeneous of gastrointestinal neoplasms, encompassing pathologic subtypes of neuroendocrine carcinoid, adenocarcinoma, lymphoma, and gastrointestinal stromal tumors. Adenocarcinoma accounted for ~25% to–35% of cancers in the small intestine, in contrast to over 90% of cancers in the large intestine. Genetic syndromes, such as familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer (HNPCC), predispose to adenocarcinoma in the small intestine.

APA, Harvard, Vancouver, ISO, and other styles

Books on the topic 'Hereditary Syndromes'

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles