H&N- Orbit Flashcards
Coat’s disease imaging findings
Clue: Unilateral, microphthalmia, subretinal exudate, retinal detachment, no extraocular findings.
CT: Unilateral microphthalmia.
within globe (exudate)
Uncommon Ca+
MR: hyper both T1 and T2 (due to proteinaceous and haemorrhagic content)
T1 C+: subfoveal enhancing nodules, intraretinal macrocysts, nerve enhancement if advanced.
US: Linear detached retina, tiny cholesterol crystals
Coat’s path/demographics
Dx within 1st decade of life.
Slightly male predominance.
Breakdown of blood-retinal endothelial barrier, development of telangiectasia, leading to subrtinal exudate of lipoprotein exudate.
Usually isolated.
Rarely bilateral, associated with genetic syndromes: Norrie disease (X-linked recessive mutation), familial exudative vitreoretinopathy (X linked recessive and autosomal variants), Coats Plus (skeletal defects, growth failure, movement disorder, seizure)
Ocular metastasis:
-Most common site?
-Primary ?
-Appearance in imaging
Common site: choroid (due to high vascularity)
Primary: Carcinomas (breast and lung)
Appearance: solid irregular enhancing mass with brad base on choroid.
Retrolental fiboplasia (Retinopathy of prematurity)
-pathophysiology
-Appearance in imaging
-Occurs due to prolonged exposure to supplemental oxygen in premature infants which interrupts normal vasculogenesis and leads to incomplete vascularisation of the retina.
-Bilateral microphthalmia, retinal detachment, hyperdense globes. May be associated with haemorrhage.
Calcifications rare (except in advance stages).
Most common childhood soft tissue soft tissue sarcoma?
Rhabdomyosarcoma.
Most common benign orbital mass in childhood?
Desmoid
Age of presentation or rhabdomyoscaroma?
Most of them (70%) <12 years.
Les frequently (40%) < 5 years.
Describe histological subtypes of rhabdomyosarcomas
4 histological subtypes:
-Embryonal RMS (50%): most common, young children (mutation in 11p15locus). 70-90% affecting H&N or genitourinary tract.
(BOTRYOIDES variant: typically in 2-5 years of age, develops in the walls of hollow, mucosal lined structures such as nasopharynx, common bile duct, bladder and vagina. Has the most favourable prognosis)
-Alveolar RMS (20%): 2nd most common; 15-25 years, adolescence. Most common in extremities and trunk. 50% have FOX01 to PAX3 (or PAX7) gene fusion (better prognosis)
-Pleomorphic RMS (20%): Least common; 40-60 years. Adults. Extremities (rarely in H&N). Often fatal.
-Spindele cell/sclerosing (10%): affects all ages.
Epidemiology of rhabdomyosarcoma
-Most common childhood soft tissue sarcoma (most common extra ocular orbital malignancy)
-Age presentation < 12 years (70%) / < 5 years (40%).
-Most common in Caucasian.
-40-50% occur in H&N (most commonly in orbit, sinus (parameningeal sites, and other)), genitourinary tract (25%), extremities (15%), other (10%)
Frequent sites of affection of rhabdomyosarcoma
40-50% H&N
25% genitourinary (bladder, vagina, prostate)
15% extremity
10% other (common bile duct)
Associations of rhabdomyosarcoma
Increase incidence of RMS in Noonan syndrome, neurofibromatosis type 1, Li-Fraumeni, Beckwith-Wiedemann, hereditary retinoblastoma. May occur as radiotion-induced 2nd primary neoplasm.
Complications of rhabdomyosarcoma
Intracranial extension (up to 50%)
Perineural spread
Metastasis (20%) to lungs and bone marrow.
Diagnosis clue for rhabdomyosarcoma
Clue: invasive soft tissue mass with variable enhancement.
* CT: Invasive soft tissue mass with variable enhancement
Osseous erosion common but not seen in all cases (in 20%)
* MR: T2FS, Stir: Isointense T1, hyperintense T2 signal relative to muscle (Not “fluid bright” unless necrotic/cystic components)
T1 C+ FS: Variable contrast enhancement, often mild to moderate (Diffuse, intense enhancement atypical)
Often restricts diffusion
* PET/CT: hypermetabolic (improve staging and posttreatment evaluation).
Most common primary intraocular neoplasm in childhood
Retinoblastoma
Path behind retinoblastoma (genetics)
Mutation of the retinoblastoma gene (tumor suppressor gene in Ch13)(lack of both alleles)
Describe incidence of bilateral vs unilateral retinoblastoma and genetic background
Unilateral = 60%. Sporadic somatic mutation of both alleles of RB1.
Bilateral= 40%. AD, involves a hereditary germinal mutation of RB1 + sporadic mutation of the other copy.
CT appearance of retinoblastoma
> 90% presents calcium deposits within irregularly thickened retina.
Heterogeneous post contrast enhancement.
MR appearance of retinoblastoma
T1 slightly hyper to vitreous
T2 slightly hypo to vitreous.
Post con: heterogeneous enhancement
Associations when bilateral retinoblastoma
-Trilateral: bilateral RB +mid line intracranial tumor (pineal tumor)
-Quadrilateral: bilateral RB + mid line intracranial tumor +/- suprasellar tumor
-All of them at reisk of other germ line malignancies: SARCOMA, melanoma, CNS tumor, epithelial (lung, bladder, breast)
Growth morphology of retinoblastoma
-Endophytic 45%, inwards protrusion into vitreous
-Exophytic, 45%, outwards into subretinal space, associated with retinal detachment and subretinal exudate.
-Mixed 10%
-Diffused infiltrating form (rare), plaque like growth, often no Ca+
Invasion rout of retinoblastomas
Extraocular extension in < 10% of cases :
-choroidal invasion: localized thickened and heterogeneous contrast enhancement near tumor
-Scleral invasion: interruption in thin, hypointense zone surrounding enhancing choroid.
-Optic nerve invasion: thickening of optic disk (prelaminar), enhancement of nerve (post laminar)
Diagnostic methods of retinoblastoma
-Opthalmoscopy
-Ultrasound (A and B scan)
-CT (Ca+)
-MR (mapping and prognostication)
Differential diagnosis of retinoblastoma
-Persistent hyperplastic primary vitreous
-Coat’s disease
-Toxocariasis
-Retinopathy of prematurity
-Coloboma
-Other causes of leucocoria (retinal detachment)
Most common retinal pathologies?
Retinoblastoma (childhood)
Hemangioblastoma (adult)
Detachment (diabetic retinopathy)
Most common choroid pathologies?
Melanoma
Metastases (since it is the most vascular structure in the eye)
Detachment.
Most common sclera pathologies
Infection
Pseudotumour
Detachment
Path of Persistent hyperplastic primary vitrous
Congenital developmental malformation due to incomplete/failure of hyaloid regression, causing remnant to persist in Cloquet canal (should involute by 8th months)
Most cases isolated and sporadic 80%
Dominance and recessive forms described.
Associations and complications of Persistent hyperplastic primary vitrous
-Usually isolated (90%)
-When bilateral, could be associated with systemic or syndromic conditions (Norrie, Walker Warburg, T13), perinatal infection (congenital cMV and rubella) methabolic (maternal cocaine abuse)
-Complications: retinal detachment, glaucoma .
Morphology of Persistent hyperplastic primary vitous
-Retrolental soft tissue and stalk with martini glass shape of enhancing soft tissue (triangular retrolental vascular tissue + central stalk of hyaloid remnant)
-Location: 50-80% mixed anterior and posterior/ 15-25% isolated posterior form / 5-20% isolated anterior form/
-Unilateral (90%) > bilateral (10%)
Diagnostic modalities for PHPV
CT: Small globe, linear retrolental density &/or vitreous hemorrhage, retinal detachment. Calcification rare
MR: -Retrolental martini glass-shaped enhancing soft tissue.
-Small globe, vitreous abnormally hyperintense on both T1WI and T2WI
-Hemorrhage and layering debris in vitreous &/or retinal detachment common (signal depends on age of blood)
US: -Lens displacement, hyperechoic retrolental stalk
- Thickened hyaloid seen as double line at pars plana
What is coloboma?
Associations?
Diagnostic features?
Most important Diferential diagnosis?
-Congenital defect caused by failure of closure/fusion of fetal optic fissure. Appears as outpouching of the optic tissue (retina, choroid, sclera,iris). Most frequently INFERO NASAL location.
-If bilateral, suspect syndromic associations: CHARGE, T13, T18, VACTER etc)
-Dx: Isodense/isointense to vitreous on CT and MR.
Sclera enhances post contrast.
Ca+ rare (only when chronic, and at margins)
-DD: Staphyloma: focal outpouching due to thinning and stretching of scleral-uveal (outer) layer of globe.
Posterior types are the most common, off centered more TEMPORAL to optic nerve.
Causes of leukocoria
-Neoplastic
Retinoblastoma (<3 years, Ca+)
Ocular melanoma
-Acquired:
Retinal detachment
Retinoplasty of prematurity
Coloboma
-Infection: Toxocariasis
-Congenital:
Congenital cataract
Persistent Hyperplastic Primary Vitrous
Coat’s disease
Retinal detachment
-Cause
-Clinical presentation
-Physiopath
-Diagnostic features
-Cause: Trauma, Traction (DM), exudative (neoplasia)
-Clinical presentation: Reduced visual acuity, floaters, flashes, visual field loss
-Physiopath: Separation of the inner neurosensory retina from the outer pigmented epithelial layer. Fluid in subretinal space.
-Dx features:
Detached retina demonstrates aftermovements
Limited anteriorly by ora serrata
Converges posteriorly on optic disc
Choroidal detachment:
-Cause
-Clinical presentation
-Physiopath
-Diagnostic features
-Cause: Increased intraocular pressure (transudative effusion due to trauma, exudative effusion due to infection or inflammation), haemorrhage, other (valsalva, hypertension, neoplasm, caroticocavernous fistula)
-Clinical presentation: Dull to severe pain
-Physiopath: detachment of the choroid from the underlying sclera. Fluid in suprachoroidal space
-Dx features:
NO aftermovements of the detached membrane
NOT limited anteriorly by ora serrata
Diverges from optic disc posteriorly
Lens dislocation:
-Cause
-Clinical presentation
-Physiopath
-Diagnostic features
Cause:
-Trauma is the most common cause.
-Non traumatic: Marfan syndrome (typically upwards and out), homocystinuria (typically downwards), Weil-Marchesani syndrome, Ehlers-Danlos. Hereditary. Infective (syphilis)
Clinical presentation: History of trauma, or reduced visual acuity
Physiopath: Subluxation or dislocation of the lens.
Dx features:
-Subluxation: Unilateral deviation of lens margin posteriorly into vitreous body. Contralateral margin fixed adjacent to iris.
-Complete dislocation: lens in dependent position in the vitreous.
Free mobility with eye movements.
Subtypes of Optic Pathway Glioma
Histopath
Epidemio
Dx pearls
Most common in childhood (>90%) less than 20yo. (most common onset 10yo)
-Childhood syndromic to NF1 (30-40%)
Low grade gliomas (pilocytic astrocytoma/ fibrillary astrocytoma).
Irregular, buckling and kinking.
Anterior pathways.
T1 peripheral hyperintensity (perinerual arachnoid gliomatosis)
-Childhood sporadic
Low grade gliomas (pilocytic astrocytoma/ fibrillary astrocytoma)
Fusiform. Cystic changes.
Posterior pathways, including chiasm.
-Adult type.
High grade gliomas (GBM)
ON and sheath, posterior spread.
Main differential diagnosis with optic sheath meningioma?
Optic Pathway Glioma:
-Variable enhancement
-no Ca+
-Irregular ON itself
Opthic sheath meningioma:
-Uniform enhancement
-Usually Ca+ in 1/3 to 1/2 of the cases.
-Mass is surrounding ON.
-Characteristic perioptic cyst (entrapped CNS)
Path of capillary haemangioma of infancy and childhood?
-Proliferation of vascular endothelium: cellular hyperplasia.
-Genetics: Most cases sporadic.
Small percent AD (Ch 5)
-Immunohistochemical marker GLUT1 positive in all phases
-Micro: Unencapsulated, lobulated cellular neoplasm. Thin walled capillaries with scant stroma.
Phases of capillary haemangioma of infancy and childhood
3 distinct phases (initially increase in size but eventually regress spontaneously)
Proliferative phase: Appears few weeks after birth and grows rapidly for year 1 or 2
Involuting phase: Regression over 3-5 years
Involuted phase: Complete regression by late childhood
Clinical presentation of capillary haemangioma of infancy and childhood?
Location?
NOT present at birth.
Appear within 1st few weeks.
Slight F predominance.
Preseptal: Predilection of eyelids, supranasal periorbital. Orbital involvement: typically superficial superomedial extraconal location.
May extend postseptal, into superior orbital fissure or intraconal space
Exclusively retrobulbar in 10%
Associations of capillary haemangioma of infancy and childhood?
Rarely associated with genetic syndromes.
PHACES syndrome (posterior fossa anomalies, hemangioma, arterial, cardiac, eye andsternal anomalies)
Dx of capillary haemangioma of infancy and childhood?
Generally:
-Proliferative phase: prominent vessels.
-Involution: increase fat and septation. Decreased enhancement.
-NO Ca+
CT: Lobular, intermediate or slightly hyperdense, homogeneous.
Intense homogeneous enhancement
MR: Best for mapping large, deep lesions.
T1 intermediate to to muscle ; prominent internal flow voids
T2: Moderate hyperintensity (high cellularity)
T1 C: intense enhancement.
MRA: Helpful for assessing arterial abnormalities, spetially in PHACES syndrome.
US: lobulated soft tissue mass. High vessel density, absent arteriovenous shunting, high peak arterial Doppler shift
When superficial, US confirms clinical diagnosis
Angio: Enlarged feeding branches (from external carotid, ophthalmic arteries)
Most common intraconal mass in adult?
Venous Cavernous malformation
Diagnostic feature of cavernous venous malformation?
-Well-demarcated, ovoid, enhancing intraconal mass
-Avid dynamic enhancement
(Early: Heterogeneous, patchy central enhancement;
venous phase: Diffuse enhancement;
Delayed phase: Fills in homogeneously)
-Benign remodeling of bone in larger lesions
-Phleboliths are pathognomonic.
T1: iso to muscle
T2: hyperintense. Hypodense rim (pseudocapsule)
DWI: restriction with mean ADC values ranging from 1.23-1.39 x 10⁻³ mm²/s
US: Well-demarcated hyperechoic retrobulbar mass. Highly reflective borders representing pseudocapsule. Medium to high internal reflectivity representing multiple vascular channels.
Angio: Contrast puddles extending into late venous phase. No distinct tumor blush. No large feeding vessel.
NM: SPECT shows delayed focal uptake on Tc-99m RBC scintigraphy
Path of venous cavernouse malformation:
Slowly growing vascular malformation.
Classified as slow-flow venous lesion with dilated vascular space.
No evidence of cellular proliferation
Pseudo encapsulated by compressed surrounding tissue
Main DD betwen venous cavernous malformation and capillary haemangioma of infancy and childhood?
Cavernous venous malformation:
-Pseudocapsule of compressed surrounding tissue
-Usually lateral
-Mostly intraconal
-Characteristic dynamic enhancement
-Slow-flow venous lesion.
-No cellular proliferation
-No GLUT 1 marker
Capillary haemangiomas of infancy and childhood:
-Non encapsulated
-Usually superomedial
-Mostly extraconal and superficial
-Monophasic enhancement pattern. Flow voids.
-Thin walled capillary-like vascular spaces
-Cellular proliferation
-marker GLUT1 positive in all phases
Causes of optic neuritis?
Multiple causes:
-Isolated (idiophatic)
-Non-infective: Multiple sclerosis is the most common cause (40-60% of patients will develop MS. 70-90% of MS will develop ON). Neuromyelitis optica spectrum (NMO such as Devic), sarcoidosis, LES, ADEM, Behcet, Sjogren, anti-MOG, CRION
-Infective: viral neuritis (herpes, varicella, HIV), radiation, Lyme disease, Toxo.
-Paediatric: rare, may follow viral or vaccination, ADEM.
Epidemiology of optic neuritis? (patient profile)
Clinical presentation?
Prognosis?
Treatment?
Young adult (35yo average), more common in female. Caucasian.
Acute onset. Pain (90%), worsen with eye movement. Visual loss.
Spontaneous recovery of visioncharacteristic of MS (ON frequently initial demyelinating event in MS)
Recurrent ON is common (Overall 35%, seen in MS, NMOSD, anti-MOG)
Recurs in same eye in 20-30%
Treatment: Dependent on etiology.
Medical: Steroids, immunomodulatory therapy.
Imaging diagnosis for optic neuritis
CT often normal.
T1: Optic nerve diffuse enhancement
T2/FLAIR/STIR: Focal or segmental T2 hyperintensity of optic nerve
T1 C+: Central or diffuse optic nerve enhancement (active demyelination)
DWI: increased diffusivity (Related to disruption of myelinated axons. Differentiates acute ON from ischemic optic neuropathy)
US: Enlargement of ON. Elevated peak systolic & end diastolic arterial velocities
Optical coherence tomography (OCT): Decreased retinal nerve fiber layer thickness
Definition and characteristics of orbital venous varix
Low-flow venous malformation,
with systemic venous connection,
dynamically distensible varix
Epidemiology of orbital venous varix (classificatoin depending on origin)
Two origins:
-Primary: congenital vascular malformation with slow flow, distensible component, & systemic venous connection.
-Secondary acquired: in association with dural arteriovenous (AV) fistula, cavernous carotid (CC) fistula or intracranial AV malformation (AVM)
Clinical presentation of orbital venous varix
Any age. F=M.
- Intermittent, reversible proptosis (proptosis casused by change in head position or Valsalva)
- Variable pain & ophthalmoplegia
- Sudden worsening due to thrombosis or hemorrhage
Associations of orbital venous varix
May co-exist with lymphatic malformations.
Morphology of orbital venous varix
Well-defined margins but may have irregular or lobulated contours; often tubular or tortuous
-Location: May occur anywhere in orbit; usually retrobulbar & extraconal, often superolateral
-Size changes dynamically with venous pressure Valsalva (stress proptosis)
Diagnostic features of orbital venous varix
Best clue: Intensely enhancing orbital mass that distends with ↑ venous pressure
Best imaging tool: Dynamic CT with provocation maneuver
MR is preferred if haemorrhage or thrombosis is suspected.
-NECT: Well-defined, tubular or tortuous soft tissue density lesion in retrobulbar space; may contain phleboliths
CECT: Intense enhancement; ↑ in size on Valsalva
-MR: T1WI & T2WI: Complex signal, blood products, fluid levels
T1WI C+: Intense enhancing orbital mass that distends with ↑ venous pressure
Variable areas of non enhancement:
Heterogeneous fast or turbulent flow void
Areas of thrombosis or acute hemorrhage
Cystic or lymphatic spaces
-US: Hypoechoic; slow flow on Doppler; dynamically ↑ with Valsalva; circumscribed & mass-like when thrombosed
-Angio: Late venous phase: Filling of dilated structure
Systemic venous connection
Definition of thyroid ophthalmopathy
Autoimmune orbital inflammatory condition associated with thyroid dysfunction
Epidemiology and clinical presentation of thyroid ophthalmopathy
Most common cause of painless proptosis.
Visual loss secondary to compression.
Middle-age adults aged 30-50yo. F»M.
Complication of thyroid ophthalmopathy
Compressive optic neuropathy leading to visual loss.
Imaging features of thyroid ophthalmopathy
Enlargement of EOM:
Fusiform enlargement of muscle belly
Sparing of tendinous insertions (DD with pseudotumor and other)
Mutiple muscle affected»_space; single EOM affected
“I > M > S > L > O” (if O and L affected, unlikely due to thyroidal disease)
Bilateral 85%. Symetrical 70%.
Expansion of orbital fat (deposition of GAG in orbital fat)
Straightened optic nerves.
CT: isodense. Internal lower density indicates GAG deposition.
C+ superior ophthalmic vein enlargement.
MRI: T1: isointense. Decreased ON diameter.
T2 /STIR muscle with acute disease (oedema and inflammation). retro-orbital fat.
muscle could be due to fibrosis.
T1 C+: Decreased enhancement (impaired microcirculation)
NM: DTPA and somatostatin analogues: Retrobulbar uptakes (active inflammation)
(decreases with immunosuppressive therapy)
Most common painful mass in adults?
Orbital pseudotumor
Epidemiology of orbital pseudotumor and clinical presentation?
Most common painful orbital mass in adults
3rd most common orbital disorder (After thyroid and lymphoproliferative lesions)
Risk factors include low socioeconomic status, elevated BMI, and bisphosphonate therapy
Presentation: Acute to subacute orbital pain, swelling, restricted motion, diplopia, proptosis, and impaired vision.
Any age, mean 5th decade.
Myositic form F>M
Path of orbital pseudotumor
Histologic variants
Polymorphous chronic inflammation and fibrosis
Plasma cell infiltrate with IgG4 variant
Histologic variants:
Sclerosing: Disproportionate connective tissue and early fibrosis with sclerosis
Granulomatous: Histiocytes, multinucleated giant cells, and granuloma formation
Vasculitic: Small vessel inflammatory infiltrate
Eosinophilic: Infiltration of eosinophilia without vasculitis; more common in children
Disease variants for orbital pseudotumor
Tolosa-Hunt: Orbital apex into cavernous sinus
Lymphocytic hypophysitis: enlarged pituitary stalk in postpartum/ 3rd trimester woman. T2 dark rim.
Sclerosing: More often bilateral, may extend into sinuses, chronic progressive fibrosis.
Associations of orbital pseudotumor
Other Autoimmune disorders: Crohn disease, systemic lupus, rheumatoid arthritis, type I diabetes, myasthenia gravis, ankylosing spondylitis, Churg-Strauss syndrome
Complications of orbital pseudoturmo
Secondary angle-closure glaucoma
Lesion morphology of orbital pseudotumor
Areas of involvement
General morphology:
May be focally mass-like or diffuse
Irregular margins, infiltrative features
May mimic neoplasm or infection
Enhancing inflammatory tissue
Causes enlargement, and enhancement of involved structures
Typically unilateral (bilateral in ~25% cases, common in children)
Area of involvement: any area of orbit:
-Lacrimal (lacrimal gland- dacryoadenitis)
most common pattern (~ 20% overall)
Diffuse enlargement of 1 or both
Cannot differentiate from lymphoproliferative lesions or sarcoidosis by imaging alone
-Myositic (extraocular muscles)
2nd most common pattern
Any muscle affected; lateral rectus and superior complex most frequent
Involves tendinous insertions (unlike thyroid disease), tubular configuration, shaggy margins
-Anterior (globe, retrobulbar orbit)
3rd most common pattern
Uveal-scleral (episcleritis or sclerotenonitis): Thickened sclera with shaggy enhancement
Variable retrobulbar fat, optic nerve and sheath involvement
Perineuritis (uncommon): Irregular nerve sheath thickening and enhancement; differentiate from optic neuritis
-Diffuse (multifocal intraconal ± extraconal)
Overlaps with other patterns
Often mass-like; tends not to distort globe or erode bone
-Apical (orbital apex, intracranial extension)
Less common; involves orbital apex with posterior extension through fissures
Image diagnostic clue:
Best clue: Poorly marginated, mass-like, enhancing inflammatory soft tissue involving any area of orbit
CT: Multifocal or infiltrative soft tissue
May rarely remodel or erode bone
CECT: Dynamic CT: Attenuation ↑ into late phase
(Differentiates from lymphoma → attenuation decreases)
MR: T1:
T2/STIR hypointense due to cellular infiltrate and fibrosis (Particularly in chronic or sclerosing variants)
DWI: Higher ADC favors pseudotumor, while lower ADC suggests lymphoproliferative disorder, but overlap exists
T1 C+: enhancement.
MRA: Tolosa-Hunt: Associated with cavernous internal carotid artery (ICA) narrowing that reverses with effective therapy
Best imaging tool: Enhanced MR with fat suppression
Diagnosis of exclusion.
Consider infectious cellulitis and carotid fistula if acute onset
Consider other systemic causes with bilateral, multifocal, lacrimal, or apical involvement
Atypical onset, poor response, or recurrence should prompt biopsy to confirm and exclude lymphoma
Most important differential diagnosis of orbital infiltrative disease
-Idiopathic Orbital pseudotumor (acute onset, painfull. T2/STIR hypointense due to cellular infiltrate and fibrosis. Multispacial )
-Lymphoproliferative lesions (main DD, biopsy should be considered to exclude lymphoma. Solid modelling tumor. predilection for lacrimal gland, eyelid, conjunctiva, eyelid, extraconal orbit. T2 Hyper)
-Thyroid ophthalmopathy (painless, extraocular muscle belly, thyroid dysfunction)
-Sarcoidosis (painless. Anywhere in orbit. Uveitis specially anterior is most common ocular manifestation. Similar predilection to lacrimal glands, bilateral. Optic nerve sheath involvement. EOM involvement asymmetric. Presental infiltration.)
-Granulomatosis with polyangitis Wegener (Necrotizing vasculitis of multiple organs, Particularly renal and respiratory. Paranasal sinus and orbital involvement with bone destruction; commonly bilateral)
-IgG4 (Considered systemic disease with multiorgan involvement. Any part of orbit may be involved with predilection for lacrimal gland and trigeminal nerve, dura-arachnoid IgG4 related hypertrophic pachymeningitis, pituitary gland stalk Hypophysitis. Adjacent paranasal sinus inflammation common. Increased serum IgG4(+) concentration in 60-70% of patients. Histology shows lymphoplasmacytic infiltration of IgG4(+) plasma cells and lymphocytes with storiform fibrosis
Steroid responsive)
-Orbital cellulitis
Basal cell carcinoma
Epidemiology
Where does it affect the most in H&N?
Where does it metastasize?
Clinical expression types?
Clinical presentation?
Pathogenesis
Risk factors?
Elderly, 7-8th decade, fair skinned.
Mainly affecting lower eyelid and medial cantus.
Rarely metastasizes.
Clinically: sporadic or part of a genetic syndrome (basal cell nevus syndrome or Gorlin Goltz)
Presentation: indolent, progressive locally aggressive and disfiguring, prevents eyelids to close. Leads to corneal lesion.
Pathogenesis: mutation in PTCH tumor supresor gene leading to activation of hedgehog signalling pathway.
Sporadic: 30% associated with mutation.
Genetic: germline loss + acquired loss .
Risk factors: Sun exposure, fari skinned, elderly, immunosuppression and disorders of DNA repair.
Basal Cell nevus syndrome (Gorlin Goltz) syndrome findings
Manifestation <20yo.
Multiple basal cell Ca.
Medulloblastoma.
Ovarian fibromas
Odontogenic keratocysts
Pits of the palms and soles
Developmental abnormalities.
Most common lacrimal gland benign neoplasm
Clinical presentation and epidemiology?
Complication?
Benign mixed tumor (aka pleomorphic adenoma) (~90% of benign tumors) (~ 50% primary epithelial tumors)
Presentation: slow growing mass, painless, proptosis (inferomedial displacement).
Young adults 2-5th decade.
Complication: malignant transformation with low cumulative risk.
Best diagnostic clue for benign mixed tumor of the lacrimal gland?
Unilateral, well defined solid mass.
30% Ca+. Common to see small cysts.
Bony scalloping/remodeling.
Moderately enhancing.
T1 hypo. T2 hyper.
Most common malignant tumor of the lacrimal gland?
Complication?
Adenocystic carcinoma (accounting for 50% of the maignant tumors)
Complication: peri-nerual spread
Best diagnostic clue for adenocystic carcinoma of h&N?
Unilateral, ill defined solid mass.
Bony erosion 70%
Ca+ 20%
Wedge or tail sign
