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Rare Diseases

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Allergic and Immunologic Disorders

Agammaglobulinemia

Bruton Agammaglobulinemia

Leukocyte Adhesion Deficiency

Pediatric Bruton Agammaglobulinemia

Pediatric Severe Combined Immunodeficiency

Schnitzler Syndrome

Benign Neoplasms

Birt-Hogg-Dube Syndrome

Desmoid Tumor

Drug-Induced Pemphigus

Dysplasia Epiphysealis Hemimelica

Familial Benign Pemphigus (Hailey-Hailey Disease)

IgA Pemphigus

Lymphangioleiomyomatosis

Lymphangioleiomyomatosis Imaging

Orthopedic Surgery for Fibrous Dysplasia

Paraneoplastic Pemphigus

Pemphigus Erythematosus

Pemphigus Foliaceus

Pemphigus Herpetiformis

Pemphigus Vulgaris

Cancers

Anaplastic Thyroid Carcinoma

Angiosarcoma

Angiosarcoma of the Scalp

Angiosarcoma Pathology

Cholangiocarcinoma

Cholangiocarcinoma Imaging

Cutaneous T-Cell Lymphoma

Ewing Sarcoma

Ewing Sarcoma Imaging

Fibrolamellar Carcinoma

Fibrolamellar Hepatocellular Carcinoma Imaging

Follicular Thyroid Carcinoma

Hereditary Colorectal Cancer

Hurthle Cell Carcinoma

Malignant Carcinoid Syndrome

Malignant Mesothelioma Imaging

Malignant Pleural Mesothelioma Staging

Malignant Pleural Mesothelioma Treatment Protocols

Medullary Thyroid Cancer and RET

Medullary Thyroid Carcinoma

Mesothelioma

Nevoid Basal Cell Carcinoma Syndrome

Pancreatic Islet Cell Tumor Imaging

Pathology of Diffuse Malignant Mesothelioma and Other Mesothelial Neoplasms of the Pleura

Pediatric Pheochromocytoma

Pediatric Thymoma

Thymoma

Thymoma Staging

Thymoma Treatment Protocols

WAGR Syndrome

Waldenstrom Macroglobulinemia Staging

Waldenstrom Macroglobulinemia Treatment Protocols

Cardiac and Vascular Conditions

Carney Complex

Eisenmenger Syndrome

Endocardial Fibroelastosis

Endomyocardial Fibrosis

Fibromuscular Dysplasia Imaging

Holt-Oram Syndrome

Idiopathic Pulmonary Arterial Hypertension

Imaging in Fibromuscular Dysplasia of the Carotid Artery

Pediatric Fungal Endocarditis

Pediatric Idiopathic Pulmonary Artery Hypertension

Pediatric Holt-Oram Syndrome

Endocrine and Metabolic Disorders

Acquired Partial Lipodystrophy

Acrodermatitis Enteropathica

Alkaptonuria

Carnitine Deficiency

Cerebrotendinous Xanthomatosis

Congenital Adrenal Hyperplasia

Denys-Drash Syndrome

Diabetes Insipidus

Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)

Gaucher Disease

Genetics of Glycogen-Storage Disease Type I

Genetics of Glycogen-Storage Disease Type II (Pompe Disease)

Genetics of Glycogen-Storage Disease Type VII

Genetics of Mucopolysaccharidosis Type I

Genetics of Mucopolysaccharidosis Type II

Genetics of Mucopolysaccharidosis Type III

Genetics of Mucopolysaccharidosis Type IV

Genetics of Propionic Acidemia (Propionyl CoA Carboxylase Deficiency)

Gigantism and Acromegaly

Glycogen Storage Diseases Types I-VII

Growth Hormone Resistance

Hypophosphatemic Rickets

I-Cell Disease (Mucolipidosis Type II)

Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism

Kearns-Sayre Syndrome

Lysosomal Storage Disease

Maple Syrup Urine Disease

McCune-Albright Syndrome

Metachromatic Leukodystrophy

Mucopolysaccharidoses Types I-VII

Mucopolysaccharidosis

N-Acetylglutamate Synthetase Deficiency

Ochronosis

Oculocerebrorenal Dystrophy (Lowe Syndrome)

Oculocerebrorenal Syndrome

Ovotesticular Disorder of Sexual Development

Pediatric Hypoparathyroidism

Pheochromocytoma

Pheochromocytoma Imaging

Sialidosis (Mucolipidosis I)

Type Ia Glycogen Storage Disease

Type Ib Glycogen Storage Disease

Type II Glycogen Storage Disease (Pompe Disease)

Type V Glycogen Storage Disease

Type VI Glycogen Storage Disease

Type VII Glycogen Storage Disease

Variegate Porphyria

Gastroenterologic Conditions

Achalasia

Achalasia Imaging

Budd-Chiari Syndrome

Budd-Chiari Syndrome Imaging

Caroli Disease Imaging

Congenital Hepatic Fibrosis

Dubin-Johnson Syndrome

Eosinophilic Gastroenteritis

Imaging in Gastrointestinal Stromal Tumors - Leiomyoma/Leiomyosarcoma

Intestinal Leiomyosarcoma

Neonatal Hemochromatosis

Ornithine Transcarbamylase Deficiency

Pediatric Caroli Disease

Pediatric Zollinger-Ellison Syndrome

Progressive Familial Intrahepatic Cholestasis

Tropical Sprue

Whipple Disease

Zollinger-Ellison Syndrome

Zollinger-Ellison Syndrome Imaging

Hematologic Disorders

Acquired Hemophilia

Acute Intermittent Porphyria

ALA Dehydratase Deficiency Porphyria

Aplastic Anemia

Bernard-Soulier Syndrome

Chester Porphyria

Donath-Landsteiner Hemolytic Anemia

Evans Syndrome

Factor XI Deficiency

Fanconi Anemia

Glanzmann Thrombasthenia

Hemophilia A

Hemophilia B

Kasabach-Merritt Syndrome

Kikuchi Disease

May-Hegglin Anomaly

Paroxysmal Cold Hemoglobinuria

Paroxysmal Nocturnal Hemoglobinuria

Pediatric Factor VII Deficiency

Pediatric Factor XIII Deficiency

Thrombocytopenia-Absent Radius Syndrome

Waldenstrom Macroglobulinemia

Infectious Diseases

Babesiosis

Botulism

Chagas Disease (American Trypanosomiasis)

CNS Whipple Disease

Dermatologic Manifestations of Necrotizing Fasciitis

Dermatologic Manifestations of Nocardiosis

Dermatologic Manifestations of Rubella

Emergency Treatment of Rabies

Fournier Gangrene

Hantavirus Cardiopulmonary Syndrome

Hantavirus Pulmonary Syndrome

Herpes Simplex Encephalitis

Leptospirosis

Listeria Infection

Necrotizing Fasciitis

Necrotizing Fasciitis Empiric Therapy

Necrotizing Fasciitis Organism-Specific Therapy

Nocardiosis

Paracoccidioidomycosis

Pediatric Hantavirus Pulmonary Syndrome

Pediatric Nocardiosis

Pediatric Plague

Pediatric Rubella

Pediatric Rubella in Emergency Medicine

Pediatric Yellow Fever

Pinta

Plague

Purpura Fulminans

Q Fever

Rabies

Smallpox

Toxic Epidermal Necrolysis

Tuberculous Meningitis

Variant Creutzfeldt-Jakob Disease and Bovine Spongiform Encephalopathy

Yaws

Yellow Fever

Musculoskeletal Conditions

Achondroplasia

Achondroplasia Imaging

Brown-Sequard Syndrome

Diastrophic Dysplasia

Fibrous Dysplasia Imaging

Fibrous Dysplasia Pathology

Genetics of Achondroplasia

Kugelberg Welander Spinal Muscular Atrophy

Physical Medicine and Rehabilitation for Limb-Girdle Muscular Dystrophy

Spondyloepiphyseal Dysplasia

Neurologic Conditions

Acute Disseminated Encephalomyelitis

Adult Optic Neuritis

Brain Imaging in Venous Vascular Malformations

Chronic Inflammatory Demyelinating Polyradiculoneuropathy

Emergent Management of Myasthenia Gravis

Emery-Dreifuss Muscular Dystrophy

Fibromuscular Dysplasia

Goodpasture Syndrome

Guillain-Barre Syndrome

Hereditary Spastic Paraplegia

Huntington Disease

Huntington Disease Dementia

Imaging in Brain Meningioma

Imaging in Spinal Meningioma

Infantile Spasm (West Syndrome)

Krabbe Disease

Lambert-Eaton Myasthenic Syndrome (LEMS)

Lesch-Nyhan Disease

Limb-Girdle Muscular Dystrophy

Medulloblastoma

Medulloblastoma Imaging

Medulloblastoma Pathology

Meningioma

Meningiomas Pathology

Methylmalonic Acidemia

Mobius Syndrome

Myasthenia Gravis

Myasthenia Gravis and Pregnancy

Neuroacanthocytosis

Neuroacanthocytosis Syndromes

Neurologic Manifestations of Incontinentia Pigmenti

Optic Nerve Sheath Meningioma

Ophthalmologic Manifestations of Myasthenia Gravis

Pediatric Guillain-Barre Syndrome

Pelizaeus-Merzbacher Disease

Pick Disease

Propionic Acidemia

Schwartz-Jampel Syndrome

Sphenoid Wing Meningioma

Tolosa-Hunt Syndrome

Ophthalmologic Conditions

Acrodermatitis Enteropathica in Ophthalmology

Benign Essential Blepharospasm

Best Disease

Familial Dysautonomia

Hermansky-Pudlak Syndrome

Imaging in Von Hippel-Lindau Syndrome

Kearns-Sayre Syndrome

Marcus Gunn Jaw-winking Syndrome

Vogt-Koyanagi-Harada Disease

von Hippel-Lindau Disease

Wyburn-Mason Syndrome

Pediatric Diseases

Achondrogenesis

Aicardi Syndrome

Bloom Syndrome (Congenital Telangiectatic Erythema)

Chediak-Higashi Syndrome

CHILD Syndrome

Craniofacial Syndromes

Cystinosis

Danon Disease

Dermatologic Manifestations of Niemann-Pick Disease

Dermatologic Manifestations of Rubinstein-Taybi Syndrome

Dermatologic Manifestations of Sjogren-Larsson Syndrome

Dermatologic Manifestations of Waardenburg Syndrome

Dracunculiasis

Dyskeratosis Congenita

Ectodermal Dysplasia

Ellis-van Creveld Syndrome

Epidermal Nevus Syndrome

Epidermolytic Ichthyosis (Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma)

Erythrokeratodermia Variabilis

Fibrodysplasia Ossificans

Focal Dermal Hypoplasia Syndrome

Genetics of Asphyxiating Thoracic Dystrophy (Jeune Syndrome)

Genetics of Rubinstein-Taybi Syndrome

Genetics of Sjogren-Larsson Syndrome

Genetics of Waardenburg Syndrome

Granulomatosis with Polyangiitis (Wegener Granulomatosis)

Haberland Syndrome

Harlequin Ichthyosis

Imaging in Dandy-Walker Malformation

Incontinentia Pigmenti

Infantile Spasm (West Syndrome)

Kernicterus

Lamellar Ichthyosis

LEOPARD Syndrome

Maffucci Syndrome

Mandibulofacial Dysostosis (Treacher Collins Syndrome)

Meckel-Gruber Syndrome

Naegeli-Franceschetti-Jadassohn Syndrome

Ornithine Transcarbamylase Deficiency

Ovotesticular Disorder of Sexual Development

Pediatric Anti-GBM Disease (Goodpasture Syndrome)

Pediatric Factor VII Deficiency

Pediatric Medulloblastoma

Pediatric Severe Combined Immunodeficiency

Refsum Disease

Reye Syndrome

Rickets

Rickets Imaging

Rothmund-Thomson Syndrome

Werner Syndrome

Winchester Syndrome

Wolf-Hirschhorn Syndrome

Rheumatologic Disorders

Eosinophilia-Myalgia Syndrome

Eosinophilic Fasciitis

Felty Syndrome

Genetics of Systemic Lupus Erythematosus

Pediatric Fibrodysplasia Ossificans Progressiva (Myositis Ossificans)

Polychondritis

Skin and Soft Tissue Conditions

Acute Febrile Neutrophilic Dermatosis

Blue Rubber Bleb Nevus Syndrome

Cutaneous Kikuchi Disease

Degos Disease

Dermatologic Manifestations of Eosinophilia-Myalgia Syndrome

Dermatologic Manifestations of Eosinophilic Fasciitis

Dermatologic Manifestations of Hermansky-Pudlak Syndrome

Dermatologic Manifestations of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis

Dermatomyositis

Epidermolysis Bullosa

Epidermolysis Bullosa Acquisita

Erythema Multiforme

Keratosis Follicularis (Darier Disease)

Langerhans Cell Histiocytosis

Nephrogenic Systemic Fibrosis

Pachyonychia Congenita

Pediatric Acrodermatitis Enteropathica

Pityriasis Rubra Pilaris

Progressive Lipodystrophy

Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair)

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