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Table 54-14 Causes of Urticaria and Angioedema
I. Primary cutaneous disorders
A. Acute and chronic urticariaa
B. Physical urticaria
2. Solar urticariab
3. Cold urticariab
4. Cholinergic urticariab
C. Angioedema (hereditary and acquired)b
II. Systemic diseases
A. Urticarial vasculitis
B. Hepatitis B or C infection
C. Serum sickness
D. Angioedema (hereditary and acquired)
A small minority develop anaphylaxis.
The common physical urticarias include dermographism, solar urticaria, cold urticaria, and cholinergic urticaria.
The present book, Differential Diagnosis in Internal
Medicine, first appeared as a German edition in
1952 and since then has been translated into 10
other languages. Over the past 50 years 19 German
editions have been published, and now the
19th edition of the work, which has become the
classic differential diagnosis textbook, is available
in English for the first time.
This book encompasses differential diagnosis
across the spectrum of internal medicine, covering
dermatology, neurology, and rheumatology,
and provides the very latest knowledge including
I am pleased to have had the opportunity to present an overview of red cell membranes
in normal and disease states with my background of nearly 30 years in this
area of research.
I believe that this kind of publication on red cell membrane is a very timely summary
of all the results obtained by the tremendous efforts worldwide by all of the
scientists in this field during the past few decades.
As reviewed in Chapter 1, the general concepts of red cell membrane abnormalities
and the categories of each red cell membrane disorder are now well established.
Duchenne muscular dystrophy represents one of the most
common hereditary diseases. Abnormal ion handling is
believed to render dystrophin-deficient muscle fibres more
susceptible to necrosis. Although a reduced Ca
capacity has been shown to exist in the dystrophic sarco-plasmic reticulum, surprisingly no changes in the abundance
of the main luminal Ca
reservoir protein calsequestrin
have been observed inmicrosomal preparations.
(BQ) Part 1 book "Liver pathology" presentation of content: Acute hepatitis and fulminant hepatic failure, chronic hepatitis, biliary diseases and cholestasis, metabolic and hereditary disorders, vascular disorders, neonatal disorders.
(BQ) Part 2 book "Molecular diagnostics for dermatology" presents the following contents: Tumors of the soft tissue - using molecular tools to aid in the diagnosis of soft tissue tumors and the management of the sarcoma patient; emerging molecular applications and summary; infectious disease testing; other hereditary dermatologic disease,...
(BQ) Part 2 book "Escourolle & poirier’s manual of basic neuropathology" presentation of content: Acquired metabolic disorders, hereditary metabolic diseases, congenital malformations and perinatal diseases, pathology of skeletal muscle, pathology of peripheral nerve, diseases of the pituitary gland.
Many disorders exhibit the feature of locus heterogeneity, which refers to the fact that mutations in different genes can cause phenotypically similar disorders. For example, osteogenesis imperfecta (Chap. 357), long QT syndrome (Chap. 226), muscular dystrophy (Chap. 382), homocystinuria (Chap. 358), retinitis pigmentosa (Chap. 29), and hereditary predisposition to colon cancer (Chap. 87) or breast cancer (Chap. 86) can each be caused by mutations in distinct genes.
Therapeutic Interventions Based on Genetic Risk for Disease Specific treatments are now available for an increasing number of genetic disorders, whether identified through population-based screening or directed testing (Table 64-2). Although the strategies for therapeutic interventions are best developed for childhood hereditary metabolic diseases, these principles are making their way into the diagnosis and management of adult-onset disorders. Hereditary hemochromatosis illustrates many of the issues raised by the availability of genetic screening in the adult population.
While most autosomal dominant inherited cancer syndromes are due to mutations in tumor-suppressor genes (Table 79-1), there are a few interesting exceptions. Multiple endocrine neoplasia type II, a dominant disorder characterized by pituitary adenomas, medullary carcinoma of the thyroid, and (in some pedigrees) pheochromocytoma, is due to gain-of-function mutations in the protooncogene RET on chromosome 10. Similarly, gain-of-function mutations in the tyrosine kinase domain of the MET oncogene lead to hereditary papillary renal carcinoma.
Etiology and Risk Factors Risk factors for the development of colorectal cancer are listed in Table 874.
Table 87-4 Risk Factors for the Development of Colorectal Cancer
Diet: Animal fat
Hereditary syndromes (autosomal dominant inheritance)
Nonpolyposis syndrome (Lynch syndrome)
Inflammatory bowel disease
Streptococcus bovis bacteremia
? Tobacco use
The etiology for most cases of large-bowel cancer appears to be related to environmental factors. The disease occurs more often in upper socioeconomic populations who live in urban areas.
Peripheral blood smear from patients with membrane-cytoskeleton abnormalities. A. Hereditary spherocytosis. B. Hereditary elliptocytosis, heterozygote. C. Elliptocytosis, with both alleles of the α-spectrin gene mutated. [From L Luzzatto, in J Gribben and D Pravan (eds): Molecular Hematology, 2d edition. Oxford, Blackwell, 2005; with permission.]
Table 101-3 Inherited Diseases of the Red Cell MembraneCytoskeleton
Chromoso mal Location
Protei n Produced s)
Disease( with s
Isolated microscopic hematuria can be a manifestation of glomerular diseases. The RBCs of glomerular origin are often dysmorphic when examined by phase-contrast microscopy. Irregular shapes of RBCs may also occur due to pH and osmolarity changes produced along the distal nephron. There is, however, significant observer variability in detecting dysmorphic RBCs. The most common etiologies of isolated glomerular hematuria are IgA nephropathy, hereditary nephritis, and thin basement membrane disease. IgA nephropathy and hereditary nephritis can lead to episodic gross hematuria.
Abstract Retinopathy of prematurity (ROP) is a vascular vitreoretinopathy that affects infants with short gestational age and low birth-weight. The condition is a multifactorial disease and is clinically similar to familial exudative vitreoretinopathy (FEVR), which is a bilateral hereditary eye disorder affecting full-term infants. Both of them are characterized by the abnormal vessel growth in the vitreous that can lead to vitreoretinal traction, retinal detachment and other complications resulting in blindness.
We all know only too well that our way of life, the food we eat, smoking, stress or
environmental toxins infl uence our health. But we have just started to learn how
these environmental factors cooperate with our hereditary genetic dispositions to
determine health or the development of diseases.
Moreover, we did not know until recently that all these factors may also infl uence
the health of our children and grandchildren to whom we may transmit
functional changes of our genes.
Friedreich ataxia (FRDA) is a rare hereditary neurodegenerative disease
characterized by progressive ataxia and cardiomyopathy. The cause of the
disease is a defect in mitochondrial frataxin, an iron chaperone involved in
the maturation of Fe–S cluster proteins.
Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM)
are the most common hereditary cardiac conditions. Both are frequent
causes of sudden death and are often associated with an adverse disease
course.Alpha-cardiac actinis one of the disease genes where different mis-sense mutations have been found to cause either HCM or DCM. We have
tested the hypothesis that the protein-folding pathway plays a role in dis-ease development for two actin variants associated with DCM and six asso-ciated with HCM....