Exophthalmos differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: John Fani Srour, M.D.

Differential Diagnosis

Complete Differential Diagnosis of the Causes of Exophthalmos:

(In alphabetical order)

• Arteriorvenous malformation
• Aspergillosis (invasive, orbital)
• Basedow syndrome (combination of hyperthyroidism, goitre, and exophthalmos )
• Carotid-cavernous fistula
• Cavernous Sinus Thrombosis
• Churg-Strauss syndrome
• Cloverleaf skull syndrome
• Cole-Carpenter syndrome
• Corneal ulcer
• Crouzon craniofacial dysostosis (Crouzon syndrome)
• Dalrymple's sign
• Dermoid cyst
• Endophthalmitis
• Erdheim-Chester disease
• Graves' disease
• Hemangioma
• Histiocytosis X
• Hyperthyroidism
• Infiltrative ophthalmopathy (hyperthyroidism)
• Insulin receptor defect with insulin-resistant diabetes mellitus
• Lowry-MacLean syndrome
• Leukemia
• Lymphoma
• Meningioma
• Mucormycosis
• Nasal type natural killer/T-cell lymphoma
• Neu-Laxova syndrome
• Neuroblastoma
• Neurofibromatosis
• Optic glioma
• Orbital cellulitis
• Orbital emphysema: from fracture of a sinus or sneezing.
• Orbital inflammatory pseudotumor: The term is used to describe any idiopathic inflammatory lesion that simulates a neoplasm within the orbit. It can be subdivided into different types: granulomatous, sclerosing, vasculitic and eosinophilic, depending upon the histological characteristics. There are strong similarities between OIP and the Tolosa-Hunt syndrome of painful ophthalmoplegia.
• Orbital mass or tumors
• Osteodysplasty (Melnick-Needles)
• Polyarteritis nodosa
• Pseudoproptosis (buphthalmos, contralateral enophthalmos

ipsilateral lid retraction, axial myopia, contralateral blepharoptosis)

• Raine syndrome
• Relapsing polychondritis
• Retinoblastoma
• Schinzel-Giedion midface-retraction syndrome
• Sinusitis
• Sturge-Weber syndrome: a neurological disorder indicated at birth by seizures accompanied by a large port-wine stain birthmark on the forehead and upper eyelid of one side of the face.
• TAO (Thyroid associated orbitopathy)
• Tolosa-Hunt syndrome
• Trauma
• Von Recklinghausen's disease (Neurofibromatosis)
• Varices, orbital
• Wegener granulomatosis

Complete Differential Diagnosis of the Causes of Exophthalmos:

(By organ system)

Cardiovascular	carotid-cavernous fistula, cavernous sinus thrombosis, Tolosa-Hunt syndrome, Hemangioma, Varices,
Chemical / poisoning	No underlying causes
Dermatologic	Sturge-Weber syndrome
Drug Side Effect	No underlying causes
Ear Nose Throat	Orbital inflammatory pseudotumor, Orbital mass, Sinusitis
Endocrine	Basedow syndrome, Graves' disease, Hyperthyroidism
Environmental	No underlying causes
Gastroenterologic	No underlying causes
Genetic	Cloverleaf skull syndrome, dermoid cyst, Lowry-MacLean syndrome Sturge-Weber syndrome, Raine syndrome, Osteodysplasty (Melnick-Needles), Crouzon craniofacial dysostosis, Insulin receptor defect with insulin-resistant diabetes mellitus, Neu-Laxova syndrome, Schinzel-Giedion midface-retraction syndrome, Neuroblastoma Neurofibromatosis, Retinoblastoma, Von Recklinghausen's disease
Hematologic	Lymphoma, Leukemia
Iatrogenic	No underlying causes
Infectious Disease	orbital cellulitis, endophthalmitis, sinusitis, aspergillosis, mucormycosis
Musculoskeletal / Ortho	No underlying causes
Neurologic	Meningioma, Sturge-Weber syndrome
Nutritional / Metabolic	No underlying causes
Obstetric/Gynecologic	No underlying causes
Oncologic	histiocytosis X, nasal type natural killer/T-cell lymphoma, hemangioma, meningioma, neuroblastoma, neurofibromatosis, optic glioma, retinoblastoma, Von Recklinghausen's disease, Lymphoma, Leukemia
Ophthalmologic	orbital inflammatory pseudotumor, orbital mass, corneal ulcer, Pseudoproptosis, orbital Varices, orbital emphysema,
Overdose / Toxicity	No underlying causes
Psychiatric	No underlying causes
Pulmonary	Churg-Strauss syndrome, Wegener granulomatosis
Renal / Electrolyte	Wegener granulomatosis
Rheum / Immune / Allergy	graves' disease, polyarteritis nodosa, wegener granulomatosis, churg-Strauss syndrome, Relapsing polychondritis,
Sexual	No underlying causes
Trauma	Orbital emphysema, Corneal ulcer
Urologic	No underlying causes
Miscellaneous	No underlying causes