Skin and the Heart

Preface
Contents
Contributors
Part I: Embryology
	1: Embryology of the Skin
		Introduction
		Epidermal & Epidermal Cells Development
		Development of the Dermis and Subcutis
		Dermal-Epidermal Junction
		Development of Skin Appendages
		Sweat Gland Development
		Treatment of Congenital Skin Disorders
		References
	2: Embryology of the Heart
		The Primitive Heart
		Cardiac Chambers
		Cardiac Valves and Septation
		Cardiac Neural Crest Cells and OFT Septation
		Cardiac Conduction System
		Epicardium and Coronary Vasculature
		References
Part II: Genetic Diseases
	3: Cardiac Involvement in Epidermolysis Bullosa
		Introduction
		Prevalence/ Population Affected
		Pathophysiology of Disease
		Dermatological and Cardiological Manifestations
			Specific EB Forms Associated with Cardiac Involvement
				Recessive Dystrophic EB (RDEB), Generalized Severe
				Junctional Epidermolysis Bullosa (JEB)
				Epidermolysis Bullosa Simplex- Muscular Dystrophy (EBS-MD)
				Lethal Acantholytic Epidermolysis Bullosa (LAEB)
				EBS- KLHL24 Mutations
			Specific Cardiac Involvement of EB (Dilated Cardiomyopathy)
		Diagnosis/Investigations
		Treatment/ Follow-Up
		Prevention
		References
	4: Cutaneous Manifestations of Aortic Disease
		The Spectrum of Aortic Disease
		Congenital Aortic Disease
		Inflammatory Aortitis
			Infectious Aortitis
			Non-Infectious Aortitis
		Reactive Arthritis
		Behcet’s Syndrome
		Ankylosing Spondylitis
		Inflammatory Bowel Disease
		IgG4-Related Aortitis
		Takayasu Arteritis
		Psoriasis and Psoriatic Arthritis
		Genetic Aortopathies
		Marfan Syndrome
		Loeys-Dietz Syndrome
		Aneurysm-Osteoarthritis Syndrome
		Non-syndromal Thoracic Aortic Aneurysm and Dissection
		Vascular Ehlers-Danlos Syndrome
		Hereditary Haemorrhagic Telangiectasia
		Cutis Laxa
		Pseudoxanthoma Elasticum
		Conclusions
		References
	5: Tuberous Sclerosis Complex: Skin and Heart: Pivotal Common and Early Signs
		Introduction and Pathophysiology
		Prevalence
		Dermatological manifestation
			Hypomelanotic macules (HMs) and “confetti” skin lesions
			Facial angiofibroma (AF)
			Fibrous cephalic plaques
			Shagreen patches
			Non-traumatic periungual fibromas (Koenen tumors)
		Cardiologic manifestations
		Diagnosis
		Treatment
			Treatment of dermatological manifestations
			Treatment of cardiologic manifestation
		Prognosis
		References
	6: Incontinentia Pigmenti
		Introduction and Pathophysiology
		Prevalence
		Dermatological Manifestation
		Cardiological Manifestations
		Diagnosis/Investigations
		Treatment
		Prognosis and Complications
		References
	7: The Heart in Neurofibromatosis 1
		Congenital Heart Defects
		Genotype–Phenotype Correlation
			NF1 and its Related Disorders (NF1-Noonan Syndrome (NFNS) and Watson Syndrome (WS))
			NF1 Microdeletion Syndrome (MIM 613675)
			Specific Mutations
		Acquired Heart Diseases
			Death from Cardiac Disease
		Molecular Basis of Cardiac Malformation and Dysfunction in NF1
		Conclusion
		References
	8: Cardiocutaneous Desmosomal Disorders
		Introduction
			Desmosomes and Heart
			Desmosomes and Skin
		Cardiocutaneous Desmosomopathies Secondary to JUP Mutations
			Naxos Syndrome (also Naxos-Carvajal Syndrome)
		Cardiocutaneous Desmosomopathies Secondary to DSP Mutations
			Carvajal Syndrome (or Carvajal Variant of Naxos-Carvajal Syndrome)
			ACM, Woolly Hair and PPK in Autosomal Dominant DSP Mutations
			Erythrokeratodermia with Cardiomyopathy Syndrome (EKC)/Severe dermatitis, multiple Allergies and Metabolic wasting (SAM) Syndrome
		References
Part III: Inflammatory Diseases
	9: Lupus Erythematosus, Scleroderma and Dermatomyositis
		Lupus Erythematosus
			Cutaneous Involvement
			Cardiovascular Involvement
			Diagnostic Approach
			Treatment Modalities
		Scleroderma
			Cutaneous Involvement
			Cardiovascular Involvement in Systemic Types of Scleroderma
			Diagnostic Approach
			Treatment
		Dermatomyositis
			Cutaneous Involvement
			Cardiovascular Involvement in Dermatomyositis
			Diagnostic Approach
			Treatment of Cardiovascular Manifestations of Dermatomyositis
		References
	10: Vasculitis
		Introduction and Pathophysiology of Disease
		Prevalence/Population Affected
		Dermatological Manifestations
			Clinical
				Large Vessel Vasculitis
				Medium Vessel Vasculitis
				Small Vessel Vasculitis
				Variable Vessel Vasculitis
				Vasculitis Associated with Systemic Disease
				Single Organ Vasculitis
				Others
			Histological Manifestation
			Differential
		Cardiological Manifestations
			Clinical
			Investigations
		Diagnosis/Investigations
		Treatment
		Prognosis/Complications
		References
	11: Behçet’s Disease
		Introduction and Pathophysiology of Disease
		Prevalence/Population Affected
		Dermatological Manifestations
			Clinical
			Histological
			Differential
		Cardiological Manifestations
			Clinical
			Investigations
		Diagnosis/Investigations
		Treatment
		Prognosis/Complications
		References
	12: Kawasaki Disease
		Introduction and Pathophysiology
		Epidemiology
		Pathology
		Etiology
		Clinical Features and Diagnosis
		Incomplete/Atypical KD
		Other Clinical and Lab Findings
		Cardiovascular Manifestation
		Involvement of Coronary Arteries
		Treatment
			Acute Treatment
		Adjunct Therapy for KD
		IVIG Resistance
		Thrombus Management
		Long-term Outcomes and Management
		Long Term Follow-up
		Important Long-term Cardiovascular Health
		Effect of COVID-19 Pandemic
		References
Part IV: Infectious
	13: COVID-19
		Introduction
		COVID-19 in Children
		Kawasaki Disease
		Etiology of Kawasaki Disease
		Cardiac Complications of COVID-19 Related Kawasaki Disease
		Treatment
		Myocarditis, and Myocardial Injury
		Myocardial Infarction, Pulmonary Embolism and Right Heart Failure
		Cutaneous Vascular Changes Seen in COVID-19
		Drug associated Cardiac and Cutaneous Adverse Effects Used in Management of COVID-19
		Conclusion
		References
	14: Lyme Disease
		History
		Epidemiology
		Etiopathogenesis
		Clinical Picture
			Skin Manifestations
		Ist Stage: Early Localized Infection
			Erythema Migrans
			Borrelial Lymphocytoma or Lymphocytoma Borreliensis
		Early Disseminated Infection
		Chronic Skin Manifestations
		Neuroborreliosis
		Examination
		Diagnostics
		Diferrential Diagnosis
		Therapy
		Topical Therapy
			Cardiac Manifestations
		Clinical
		Investigations
		Treatment
		Prognosis and Complications
		References
	15: Syphilis
		Introduction and Pathophysiology of Disease
		Prevalence/Population Affected
		Dermatological Manifestations
		Cardiological Manifestations
		Diagnosis/Investigations
		Treatment
		References
	16: Viral Conditions
		Varicella
			Introduction and Pathophysiology of Disease
			Prevalence/Population Affected
			Dermatological Manifestations
				Histological
				Differential Diagnosis
			Cardiological Manifestations
				Investigations
			Diagnosis/Investigations
			Treatment
				Pre-exposure Prophylaxis
				Post-exposure Prophylaxis
				Antiviral Treatment
			Prognosis/Complications
		Congenital Rubella
			Introduction and Pathophysiology of Disease
			Prevalence/Population Affected
			Dermatological Manifestations
				Histological
				Differential Diagnosis
			Cardiological Manifestations: Clinical
				Investigations
			Diagnosis/Investigations
			Treatment
				Pre-exposure Prophylaxis
				Therapeutic Approach
			Prognosis/Complications
		References
Part V: Metabolic and Endocrine Diseases
	17: Xanthomas and Abnormalities of Lipid Metabolism and Storage
		Introduction
		Overview of Lipid Metabolism
		Xanthomas
			Tuberous Xanthomas
			Tendon Xanthomas
			Eruptive Xanthomas
			Dyslipidemic Plane (Planar) Xanthomas
			Xanthelasmas
			Plane Xanthomas
			Palmar Xanthomas
		Overview of Primary Dyslipidemias
			Hypelipoproteinemia Type I
			Hyperlipoproteinemia Type II
			Hyperlipoproteinemia Type III
			Hyperlipoproteinemia Type IV
			Hyperlipoproteinemia Type V
		References
	18: The Skin and Diabetes
		Introduction
		Diabetic Dermatological Diseases
		Pathogenesis of Diabetes Associated Skin Disorders
			Acanthosis Nigricans
		Acne Vulgaris
		Acquired Perforating Dermatosis
		Diabetic Bullae
		Diabetic Dermopathy
		Granuloma Annulare
		Hidradenitis Suppurativa
		Hyperhidrosis
		Infectious Conditions
			Necrobiosis Lipoidica
		Lichen Planus
			Localised Lipodystrophy
			Localised Allergic Reactions
		Pigmented Purpuric Dermatosis
		Pruritus and Xerosis
		Psoriasis Vulgaris
		Rubeosis Facei
		Scleredema Diabeticorum
		Vitiligo
		Xanothomas (Eruptive)
		Diabetic Foot Ulceration
			The Association Between Diabetic Foot Ulceration and Cardiovascular Disease
			General Assessment and Management of Diabetic Foot Ulceration
			Investigation of Cardiovascular Disease in Diabetic Foot Ulceration
		Conclusion
		References
	19: Lysosomal Storage Disorders: Fabry Disease
		Introduction
		Prevalence/Population Affected
			Clinical Manifestations
		Dermatological Manifestation
			Histological Findings
		Cardiological Manifestations
			Left Ventricular Hypertrophy
			Angina/Ischaemia
			Arrhythmia
			Valvular
			Aortic/Arterial Involvement
			Cardiac Pathophysiology
		Other Manifestations
			Neurological
			GI
			Renal
			Cornea
		Diagnosis/Investigations
			Diagnosis
			Investigations
		Treatment
			Enzyme Replacement Therapy
			Oral Chaperone Therapy
			Future Directed Therapies
			Ancillary/Supportive Therapies
		Prognosis/Complications
		References
	20: Mastocytosis
		Dermatological Manifestations
		Mastocytosis: Introduction and Mast Cell Activation Symptoms
			Introduction
			Mast Cell Activation Symptoms
		Diagnosis Criteria of Mastocytosis
			Systemic Mastocytosis
			Cutaneous Mastocytosis
			Isolated Cutaneous Mastocytosis
			Undetermined Mastocytosis
		Prognosis of the Mastocytosis Patient
		Diagnostic Approach
		Treatment of the Mastocytosis Patient
		Cardiological Manifestations
		References
Part VI: Infectious Diseases
	21: Medication Induced Cardiotoxicity and Skin Reactions
		Introduction
			Pathophysiology
			Prevalence/Population Affected
		Dermatological Manifestation
			Clinical Findings
		Cardiologic Adverse Drug Reactions
			Introduction and Pathophysiology of Disease
			Prevalence/Population Affected
			Cardiovascular Manifestation
		Treatment
		References
	22: Cardiovascular Side Effects of Medications for Skin Diseases
		Dapsone
		Antimalarial Agents
		Retinoids
		Corticosteroids
		Immunosuppressive Agents
		Antiandrogens
		Biologic Therapeutics
		Fusion Antibody Proteins
		Recombinant Human Cytokines and Growth Factors
		Intravenous Immunoglobulin
		Immune Checkpoint Inhibitors: Anti PD-1
		Annex
		References
	23: The Importance of Cardiac Assessment in the Era of Biologic Therapies for Psoriasis
		Introduction
			Anti Tumor Necrosis Factor α
			Interleukin 12/23 Inhibitors and Interleukin 17 Inhibitors
				Interleukin 12/23 Inhibitors
				Interleukin 17 Inhibitors
				Interleukin 23 Inhibitors [26]
		How Important Is to Have a More in Depth Analysis of the Cardiac Function Before Starting a Biologic Treatment in the Psoriasis Patient?
		Cardiac Rate, Rhythms and Conduction Disturbances
		Other Sources of Cardiac Dysfunction
		Clinically Silent Cardiac Malfunction in Psoriasis Patient
		The Need for Cardiology Assessment
		References
Part VII: Erythroderma and High Output Cardiac Failure
	24: Erythroderma and Cardiac Function
		Introduction
		Etiology and Population Affected
		Pathogenesis of Erythrodema
		Pathogenesis of Cardiovascular Changes in Erythrodermic Patients
		Diagnosis/Investigations
		Treatment
		Prognosis/Complications
		References
Part VIII: Miscellaneous
	25: Disorders of Fluid Regulation
		Plasma Osmolality, Glycosaminoglycans, Sodium and Their Effects on Fluid Balance
		Renin-Angiotensin-Aldosterone System
		Congestive Cardiac Failure and Fluid Retention
		Increased Capillary Permeability
		Albumin and its Role in Fluid Homeostasis
		Edema
		Evaluation and Treatment of Patients with Fluid Overload
		References
	26: Infantile Hemangiomas and the Heart
		Introduction and Pathophysiology
		Prevalence/Population Affected
		Dermatological Manifestations
		Diagnosis/Investigations
		Treatment
		Prognosis/Complications
		Cardiological Manifestations
			Liver Hemangiomas and the Heart
				Investigations and Management
			Treatment for IH and the Heart
				Propranolol
				Cardiovascular Side Effects
				Pre-treatment Cardiovascular Assessment
			Systemic Corticosteroids
			Other Treatments
			PHACE Syndrome
				Clinical Presentation
				Investigations and Management
		References
	27: Erdheim-Chester Disease
		Introduction
		Etiology and Pathogenesis
		Epidemiology
		Clinical Manifestations
			Cutaneous Findings
			Cardiovascular Involvement
			Other Clinical Manifestations
				Skeletal Involvement
				Neurological and Orbital Involvement
				Pulmonary Involvement
				Endocrine System Involvement
				Retroperitoneal and Renal Involvement
		Diagnosis
		Therapy and Prognosis
		References
	28: Cardiac Implantable Device Related Complications
		Introduction
		Types of Devices
		Complications of Cardiac Devices
		Cutaneous Complications
			Pocket Haematoma
			Device Infection
			Scarring
		Pacemaker Allergy
		References
Index