Genetic Autoinflammatory Disorders
Genetic Autoinflammatory Disorders Matthew D. Vesely Chyi-Chia Richard Lee Edward W. Cowen The concept of autoimmunity (horror autotoxicus) was initially proposed over a century ago by Paul Ehrlich to describe…
Genetic Mosaic Disorders
Genetic Mosaic Disorders Lihi Atzmony Keith A. Choate Mosaicism refers to the presence of genetically distinct cells within an organism that result from postzygotic mutation.1 In contrast to chimerism, in…
Genetic Disorders of DNA Repair Mechanisms
Genetic Disorders of DNA Repair Mechanisms Jennifer A. Day Adnan Mir XERODERMA PIGMENTOSUM Definition and Epidemiology Xeroderma pigmentosum (XP) is a group of genetically inherited defects caused by mutations in…
Genetic Deposition Disorders
Genetic Deposition Disorders Titilola Sode Adnan Mir LIPOID PROTEINOSIS Definition and Epidemiology Lipoid proteinosis (LP, hyalinosis cutis et mucosae) is a rare autosomal recessive disease characterized by thickening of the…
Genetic Disorders of Dermal Connective Tissue
Genetic Disorders of Dermal Connective Tissue Adnan Mir Kevin Y. Shi EHLERS-DANLOS SYNDROME Definition and Epidemiology Ehlers-Danlos syndrome (EDS) is a heterogeneous group of diseases caused by hereditable anomalies of…
Genetic Disorders of Pigmentation
Genetic Disorders of Pigmentation Jennifer A. Day Travis Vandergriff Adnan Mir VITILIGO Definition and Epidemiology Vitiligo is an acquired pigmentary dermatosis characterized by a loss of cutaneous melanocytes resulting in…
Genetic Disorders of Epidermal Maturation and Cornification
Genetic Disorders of Epidermal Maturation and Cornification Jennifer A. Day Adnan Mir ICHTHYOSIS Definition and Epidemiology The ichthyoses are a large, heterogeneous group of heritable disorders characterized by abnormal epidermal…
Vasculopathic, Vasculitic, and Neutrophilic Dermatosis
Vasculopathic, Vasculitic, and Neutrophilic Dermatosis Ines Wu Soukoulis Alejandro A. Gru URTICARIA AND URTICARIAL VASCULITIS Definition and Epidemiology Urticaria generally represents a type 1 hypersensitivity reaction that can be triggered…
Panniculitis, Granulomatous, and Fibrosing Disorders
Panniculitis, Granulomatous, and Fibrosing Disorders Thomas Stringer Lori D. Prok Vikash S. Oza ERYTHEMA NODOSUM Definition and Epidemiology Erythema nodosum (EN), one of the best-recognized panniculitides, is believed to be…
Vesiculobullous Disorders
Vesiculobullous Disorders Kristen P. Hook Jonathan J. Davick James W. Patterson INTRODUCTION Blistering diseases in infants can be a diagnostic challenge that requires consideration of age of onset, pattern of…
