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Symptoms and Signs – Differential Diagnosis of Hodgkin’s Disease
• Cat-scratch disease
• Chronic lymphocytic leukemia (CLL)
• Drug reaction
• Infections (e.g., cytomegalovirus [CMV], Epstein-Barr virus, toxoplasma, HIV)
• Metastatic neoplasm
• Non-Hodgkin’s lymphoma
• Sarcoidosis
• Cat-scratch disease
• Chronic lymphocytic leukemia (CLL)
• Drug reaction
• Infections (e.g., cytomegalovirus [CMV], Epstein-Barr virus, toxoplasma, HIV)
• Metastatic neoplasm
• Non-Hodgkin’s lymphoma
• Sarcoidosis
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Symptoms and Signs – Differential Diagnosis of Hookworm
• Ascariasis
• Other causes of iron deficiency anemia and malabsorption
• Strongyloidiasis
• Ascariasis
• Other causes of iron deficiency anemia and malabsorption
• Strongyloidiasis
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Symptoms and Signs – Differential Diagnosis of Hordeolum
• Acute dacryocystitis
• Allergy or contact dermatitis with conjunctival edema
• Cellulitis of the eyelid
• Chalazion
• Eyelid abscess
• Herpes simplex infection
• Acute dacryocystitis
• Allergy or contact dermatitis with conjunctival edema
• Cellulitis of the eyelid
• Chalazion
• Eyelid abscess
• Herpes simplex infection
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Symptoms and Signs – Differential Diagnosis of Horner’s Syndrome
CAUSES OF ANISOCORIA (UNEQUAL PUPILS)
• Iritis
• Mydriatic use
• Normal variant
• Prosthetic eye
• Unilateral cataract
CAUSES OF ANISOCORIA (UNEQUAL PUPILS)
• Iritis
• Mydriatic use
• Normal variant
• Prosthetic eye
• Unilateral cataract
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Symptoms and Signs – Differential Diagnosis of Hot Flashes
• Anxiety disorder
• Carcinoid syndrome
• Hyperthyroidism
• Idiopathic flushing
• Lymphoma (night sweats)
• Medications (e.g., niacin)
• Menopause
• Anxiety disorder
• Carcinoid syndrome
• Hyperthyroidism
• Idiopathic flushing
• Lymphoma (night sweats)
• Medications (e.g., niacin)
• Menopause
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Symptoms and Signs – Differential Diagnosis of Human Granulocytic Ehrlichiosis
• Adenovirus pneumonia
• Babesiosis
• Brucellosis
• Caused by Ehrlichia chaffeensis (vector: tick Amblyomma americanum, possibly Dermacentor variabilis)
• Enteroviral infections
• Human monocytic ehrlichiosis (HME)
• Influenza
• Legionnaires’ disease
• Leptospirosis
• Lyme disease
• Meningococcemia
• Morulae in monocytes
• Rash more common, sometimes petechial
• Rocky Mountain spotted fever, Colorado tick fever, Q fever, relapsing fever
• Tularemia
• Typhoid fever, paratyphoid fever
• Typhus
• Viral hepatitis
• Adenovirus pneumonia
• Babesiosis
• Brucellosis
• Caused by Ehrlichia chaffeensis (vector: tick Amblyomma americanum, possibly Dermacentor variabilis)
• Enteroviral infections
• Human monocytic ehrlichiosis (HME)
• Influenza
• Legionnaires’ disease
• Leptospirosis
• Lyme disease
• Meningococcemia
• Morulae in monocytes
• Rash more common, sometimes petechial
• Rocky Mountain spotted fever, Colorado tick fever, Q fever, relapsing fever
• Tularemia
• Typhoid fever, paratyphoid fever
• Typhus
• Viral hepatitis
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Symptoms and Signs – Differential Diagnosis of Human Immunodeficiency Virus Infection
• Acute infection: mononucleosis or other respiratory viral infections
• Late symptoms: similar to those produced by other wasting illnesses, such as neoplasms, TB, disseminated fungal infection, malabsorption, or depression
• HIV-related encephalopathy: confused with Alzheimer’s disease or other causes of chronic dementia; myelopathy and neuropathy possibly resembling other demyelinating diseases, such as multiple sclerosis (MS)
• Acute infection: mononucleosis or other respiratory viral infections
• Late symptoms: similar to those produced by other wasting illnesses, such as neoplasms, TB, disseminated fungal infection, malabsorption, or depression
• HIV-related encephalopathy: confused with Alzheimer’s disease or other causes of chronic dementia; myelopathy and neuropathy possibly resembling other demyelinating diseases, such as multiple sclerosis (MS)
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Symptoms and Signs – Differential Diagnosis of Huntington’s Disease
• Benign hereditary chorea: autosomal dominant with onset in childhood. There is no progression of symptoms and no associated dementia or behavioral problems.
• Chorea gravidarum: presents during first 4 to 5 months of pregnancy and resolves after delivery
• Dentatorubropallidoluysian atrophy: autosomal dominant, triplet repeat disease; presentation is variable and includes chorea, myoclonus, dementia, and ataxia; more common in Japan; can be confirmed by genetic testing
• Drug-induced chorea: dopamine, stimulants, anticonvulsants, antidepressants, and oral contraceptives have all been known to cause chorea.
• Neuroacanthocytosis: autosomal recessive; chorea, dystonia, tics, and orolingual dyskinesias that can result in self-mutilation; must look for acanthocytes in peripheral smear
• Paraneoplastic: seen most commonly in small cell lung cancer and lymphoma
• Postinfectious
• Senile chorea
• Sydenham’s chorea: decreased incidence with decline of rheumatic fever
• Systemic lupus erythematosus (SLE): can be the presenting feature of lupus; occurs in only about 1% of individuals with lupus; pathophysiology unknown
• Wilson’s disease: autosomal recessive; tremor, dysarthria, and dystonia are more common presentations than chorea. Of patients with neurologic manifestations, 95% will have Kayser-Fleischer rings.
• Benign hereditary chorea: autosomal dominant with onset in childhood. There is no progression of symptoms and no associated dementia or behavioral problems.
• Chorea gravidarum: presents during first 4 to 5 months of pregnancy and resolves after delivery
• Dentatorubropallidoluysian atrophy: autosomal dominant, triplet repeat disease; presentation is variable and includes chorea, myoclonus, dementia, and ataxia; more common in Japan; can be confirmed by genetic testing
• Drug-induced chorea: dopamine, stimulants, anticonvulsants, antidepressants, and oral contraceptives have all been known to cause chorea.
• Neuroacanthocytosis: autosomal recessive; chorea, dystonia, tics, and orolingual dyskinesias that can result in self-mutilation; must look for acanthocytes in peripheral smear
• Paraneoplastic: seen most commonly in small cell lung cancer and lymphoma
• Postinfectious
• Senile chorea
• Sydenham’s chorea: decreased incidence with decline of rheumatic fever
• Systemic lupus erythematosus (SLE): can be the presenting feature of lupus; occurs in only about 1% of individuals with lupus; pathophysiology unknown
• Wilson’s disease: autosomal recessive; tremor, dysarthria, and dystonia are more common presentations than chorea. Of patients with neurologic manifestations, 95% will have Kayser-Fleischer rings.
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Symptoms and Signs – Differential Diagnosis of Hepatorenal Syndrome
• Acute tubular necrosis: urinary sodium >30, FENa >1.5%, urinary/plasma creatinine ratio <30, urine/plasma osmolality ratio = 1, urine sediment reveals casts and cellular debris; there is no significant response to sustained plasma expansion.
• Prerenal azotemia: response to sustained plasma expansion is good (prompt diuresis with volume expansion).
• Acute tubular necrosis: urinary sodium >30, FENa >1.5%, urinary/plasma creatinine ratio <30, urine/plasma osmolality ratio = 1, urine sediment reveals casts and cellular debris; there is no significant response to sustained plasma expansion.
• Prerenal azotemia: response to sustained plasma expansion is good (prompt diuresis with volume expansion).
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Symptoms and Signs – Differential Diagnosis of Hermaphroditism
FEMALE PSEUDOHERMAPHRODITISM
• Androgen exposure
• Fetal source
21-Hydroxylase (P450c21) deficiency
11β-Hydroxylase (P450c11) deficiency
3β-Hydroxysteroid dehydrogenase II (3) deficiency
Aromatase (P450arom) deficiency
• Maternal source
Virilizing ovarian tumor
Virilizing adrenal tumor
Androgenic drugs
• Undetermined origin
• Associated with GU and GI tract defects
MALE PSEUDOHERMAPHRODITISM
• Defects in testicular differentiation
• Denys-Drash syndrome (mutation in WT1 gene)
• WAGR syndrome (Wilms’ tumor, aniridia, GU malformation,
retardation)
• Deletion of 11p13
• Camptomelic syndrome (autosomal gene at 17q24.3-q25.1)
and SOX9 mutation
• XY pure gonadal dysgenesis (Swyer syndrome)
Mutation in SRY gene
Unknown cause
XY gonadal agenesis
• Deficiency of testicular hormones
• Leydig cell aplasia
• Mutation in luteinizing hormone (LH) receptor
• Lipoid adrenal hyperplasia (P450scc) deficiency; mutation in
StAR (steroidogenic acute regulatory protein)
• 3β-Hydroxysteroid dehydrogenase II deficiency
• 17-Hydroxylase/17,20-lyase (P450c17) deficiency
• Persistent müllerian duct syndrome
• Gene mutations, müllerian-inhibiting substance (MIS)
• Receptor defects for MIS
• Defect in androgen action
• 5α-Reductase 2 mutations
• Androgen receptor defects
• Complete androgen insensitivity syndrome
• Partial androgen insensitivity syndrome
Reifenstein’s and other syndromes
Smith-Lemli-Opitz syndrome
• Defect in conversion of 7-dehydrocholesterol to cholesterol
TRUE HERMAPHRODITISM
• XX
• XY
• XX/XY chimeras
FEMALE PSEUDOHERMAPHRODITISM
• Androgen exposure
• Fetal source
21-Hydroxylase (P450c21) deficiency
11β-Hydroxylase (P450c11) deficiency
3β-Hydroxysteroid dehydrogenase II (3) deficiency
Aromatase (P450arom) deficiency
• Maternal source
Virilizing ovarian tumor
Virilizing adrenal tumor
Androgenic drugs
• Undetermined origin
• Associated with GU and GI tract defects
MALE PSEUDOHERMAPHRODITISM
• Defects in testicular differentiation
• Denys-Drash syndrome (mutation in WT1 gene)
• WAGR syndrome (Wilms’ tumor, aniridia, GU malformation,
retardation)
• Deletion of 11p13
• Camptomelic syndrome (autosomal gene at 17q24.3-q25.1)
and SOX9 mutation
• XY pure gonadal dysgenesis (Swyer syndrome)
Mutation in SRY gene
Unknown cause
XY gonadal agenesis
• Deficiency of testicular hormones
• Leydig cell aplasia
• Mutation in luteinizing hormone (LH) receptor
• Lipoid adrenal hyperplasia (P450scc) deficiency; mutation in
StAR (steroidogenic acute regulatory protein)
• 3β-Hydroxysteroid dehydrogenase II deficiency
• 17-Hydroxylase/17,20-lyase (P450c17) deficiency
• Persistent müllerian duct syndrome
• Gene mutations, müllerian-inhibiting substance (MIS)
• Receptor defects for MIS
• Defect in androgen action
• 5α-Reductase 2 mutations
• Androgen receptor defects
• Complete androgen insensitivity syndrome
• Partial androgen insensitivity syndrome
Reifenstein’s and other syndromes
Smith-Lemli-Opitz syndrome
• Defect in conversion of 7-dehydrocholesterol to cholesterol
TRUE HERMAPHRODITISM
• XX
• XY
• XX/XY chimeras
