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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
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Symptoms and Signs – Differential Diagnosis of Herpangina
• Aphthous stomatitis
• Bacterial pharyngitis
• Hand-foot-mouth disease
• Herpes simplex
• Tonsillitis
• Aphthous stomatitis
• Bacterial pharyngitis
• Hand-foot-mouth disease
• Herpes simplex
• Tonsillitis
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Symptoms and Signs - Differential Diagnosis of Genital Herpes Simplex
• Bacterial infections (syphilis, chancroid, granuloma inguinale)
• Cancer of the vulva
• Follicular abscess
• Fungal infections (Candida)
• Hidradenitis suppurativa
• HIV infection
• Human papillomavirus
• Molluscum contagiosum
• Vulvar dystrophies
• Bacterial infections (syphilis, chancroid, granuloma inguinale)
• Cancer of the vulva
• Follicular abscess
• Fungal infections (Candida)
• Hidradenitis suppurativa
• HIV infection
• Human papillomavirus
• Molluscum contagiosum
• Vulvar dystrophies
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Symptoms and Signs - Differential Diagnosis of Oral Herpes Simplex
• Aphthous stomatitis
• Behçet’s syndrome
• Coxsackievirus infection
• Herpangina
• Herpes zoster
• Impetigo
• Stevens-Johnson syndrome
• Varicella
• Aphthous stomatitis
• Behçet’s syndrome
• Coxsackievirus infection
• Herpangina
• Herpes zoster
• Impetigo
• Stevens-Johnson syndrome
• Varicella
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Symptoms and Signs – Differential Diagnosis of Herpes Zoster
• Pain from herpes zoster: may be confused with acute myocardial infarction (MI), pulmonary embolism, pleuritis, pericarditis, renal colic
• Rash: herpes simplex and other viral infections
• Pain from herpes zoster: may be confused with acute myocardial infarction (MI), pulmonary embolism, pleuritis, pericarditis, renal colic
• Rash: herpes simplex and other viral infections
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Symptoms and Signs - Differential Diagnosis of Hiatal Hernia
• Achalasia
• Barrett’s esophagus
• Esophageal cancer
• Esophageal spasm
• Esophagitis (e.g., Candida, herpes, nonsteroidal anti-inflammatory drugs [NSAIDs])
• Peptic ulcer disease
• Schatzki’s ring
• Unstable angina
• Zenker’s diverticulum
• Achalasia
• Barrett’s esophagus
• Esophageal cancer
• Esophageal spasm
• Esophagitis (e.g., Candida, herpes, nonsteroidal anti-inflammatory drugs [NSAIDs])
• Peptic ulcer disease
• Schatzki’s ring
• Unstable angina
• Zenker’s diverticulum
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Symptoms and Signs – Differential Diagnosis of Hiccups
TRANSIENT HICCUPS
• Sudden excitement, emotion
• Gastric distention
• Esophageal obstruction
• Alcohol ingestion
• Sudden change in temperature
PERSISTENT OR CHRONIC HICCUPS
• Toxic/metabolic: uremia, DM, hyperventilation, hypocalcemia, hypokalemia, hyponatremia, gout, fever
• Drugs: benzodiazepines, steroids, methyldopa, barbiturates
• Surgery/general anesthesia
• Thoracic/diaphragmatic disorders: pneumonia, lung cancer, asthma, pleuritis, pericarditis, myocardial infarction (MI), aortic aneurysm, esophagitis, esophageal obstruction, diaphragmatic hernia or irritation
• Abdominal disorders: gastric ulcer or cancer, hepatobiliary or pancreatic disease, inflammatory bowel disease (IBD), bowel obstruction, intra-abdominal or subphrenic abscess, prostatic infection or cancer
• CNS disorders: traumatic, infectious, vascular, structural
• Ear, nose, and throat disorders: pharyngitis, laryngitis, tumor, irritation of auditory canal
• Psychogenic disorders
• Idiopathic disorders
TRANSIENT HICCUPS
• Sudden excitement, emotion
• Gastric distention
• Esophageal obstruction
• Alcohol ingestion
• Sudden change in temperature
PERSISTENT OR CHRONIC HICCUPS
• Toxic/metabolic: uremia, DM, hyperventilation, hypocalcemia, hypokalemia, hyponatremia, gout, fever
• Drugs: benzodiazepines, steroids, methyldopa, barbiturates
• Surgery/general anesthesia
• Thoracic/diaphragmatic disorders: pneumonia, lung cancer, asthma, pleuritis, pericarditis, myocardial infarction (MI), aortic aneurysm, esophagitis, esophageal obstruction, diaphragmatic hernia or irritation
• Abdominal disorders: gastric ulcer or cancer, hepatobiliary or pancreatic disease, inflammatory bowel disease (IBD), bowel obstruction, intra-abdominal or subphrenic abscess, prostatic infection or cancer
• CNS disorders: traumatic, infectious, vascular, structural
• Ear, nose, and throat disorders: pharyngitis, laryngitis, tumor, irritation of auditory canal
• Psychogenic disorders
• Idiopathic disorders
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Symptoms and Signs – Differential Diagnosis of Hidradenitis Suppurativa
• Actinomycosis
• Bartholin’s cyst infection
• Cat-scratch disease
• Crohn’s disease (perianal and vulvar manifestations)
• Erysipelas
• Folliculitis and other follicular pyodermas, furuncles, pilonidal cysts
• Furuncle
• Granuloma inguinale
• Lymphangitis
• Lymphogranuloma venereum
• Tularemia
• Ulcerative colitis
• Actinomycosis
• Bartholin’s cyst infection
• Cat-scratch disease
• Crohn’s disease (perianal and vulvar manifestations)
• Erysipelas
• Folliculitis and other follicular pyodermas, furuncles, pilonidal cysts
• Furuncle
• Granuloma inguinale
• Lymphangitis
• Lymphogranuloma venereum
• Tularemia
• Ulcerative colitis