Porphyria

Sep 15, 2019 by in Dermatology Comments Off on Porphyria

Abstract The porphyrias comprise a clinically and genetically heterogeneous group of diseases mostly arising from a genetically determined dysfunction of specific enzymes in the heme biosynthetic pathway. Based on the…

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Lupus Erythematosus

Sep 15, 2019 by in Dermatology Comments Off on Lupus Erythematosus

Abstract Lupus erythematosus is a multisystem disorder that prominently affects the skin. The most common types of cutaneous lupus are acute cutaneous lupus (ACLE), subacute cutaneous lupus (SCLE), and discoid…

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Basic Principles of Genetics

Sep 15, 2019 by in Dermatology Comments Off on Basic Principles of Genetics

Abstract Human disease can arise from genetic changes ranging from mutations in single nucleotides to alterations affecting entire chromosomes. Genetic skin diseases include Mendelian (monogenic) disorders caused by defects in…

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Systemic Sclerosis (Scleroderma) and Related Disorders

Sep 15, 2019 by in Dermatology Comments Off on Systemic Sclerosis (Scleroderma) and Related Disorders

Abstract Systemic sclerosis (SSc, scleroderma) is an uncommon autoimmune connective tissue disease of unknown etiology. The clinical hallmark of the disease is cutaneous sclerosis. Ninety-five percent of SSc patients present…

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Amyloidosis

Sep 15, 2019 by in Dermatology Comments Off on Amyloidosis

Abstract The cutaneous amyloidoses represent a heterogeneous group of conditions in which amyloid, a fibrillar material that can result from the degradation of various proteins, is deposited in the skin….

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Mucinoses

Sep 15, 2019 by in Dermatology Comments Off on Mucinoses

Abstract The cutaneous mucinoses are a heterogeneous group of disorders characterized by an abnormal accumulation of mucin within the skin. While the precise pathogenesis is unknown, cytokines (e.g. TNF, interleukin-1,…

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Other Rheumatologic Disorders and Autoinflammatory Diseases

Sep 15, 2019 by in Dermatology Comments Off on Other Rheumatologic Disorders and Autoinflammatory Diseases

Abstract The clinicopathologic features of the following entities are reviewed: systemic-onset juvenile idiopathic arthritis (sJIA), adult-onset Still disease, relapsing polychondritis, Sjögren syndrome, mixed connective tissue disease (MCTD), and rheumatoid arthritis,…

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Deposition Diseases

Sep 15, 2019 by in Dermatology Comments Off on Deposition Diseases

Abstract The cutaneous deposition disorders are a heterogeneous group of conditions characterized by the presence of primarily endogenous substances within the dermis and/or the subcutis. These include gout, pseudogout, lipoid…

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Dermatomyositis

Sep 15, 2019 by in Dermatology Comments Off on Dermatomyositis

Abstract Dermatomyositis is an autoimmune disease that most often affects both the muscles and the skin (classic dermatomyositis), but also may occur in a skin-predominant fashion (clinically amyopathic dermatomyositis). All…

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