4. Fibrous Dysplasia
– Benign anomaly of the spongy bone characterized by replacement of normal
bone with fibro-osseous tissue.
– Most common craniofacial tumor encountered by plastic surgeons.
– Most commonly begins in childhood then progresses through adolescence.
– Ranges from mild to severe with distribution being monostotic or polyostotic.
5. Monostotic Distribution
– Single area of bone involvement
– Skull involvement in 27% of
patients
– Most commonly affects the frontal
and sphenoid bones and the
maxilla
Polyostotic Distribution
– Multiple involved bony areas
– Skull involvement in 50% of the
patients
– Can affect more than one limb or
multiple bones throughout the
body.
6.
7. Clinical Findings
– Depend on the location, duration and extent of the disease.
– May include swelling of the affected side (most common)
– Facial pain - Malocclusion with tooth displacement
– Headaches - Diplopia
– Cranial nerve palsies - Proptosis
– Anosmia - Orbital dystopia
– Deafness
– Blindness
8. Etiology
– Abnormal activity of the bone forming mesenchyme with an arrest of bone
maturation in the woven bone stage.
– Normal bone matrix is replaced by fibroblastic proliferation and there are
resultant irregular trabeculae of partially calcified osteoid.
– Caused by somatic activating mutations in the alpha subunit of the stimulatory
G protein encoded by the GNAS gene.
9. Diagnosis
– Depends on a combination of clinical, radiographic and histological criteria.
– Typical plain radiographic appearance is of radiolucent lytic lesions with a
homogenous ground glass appearance and ill defined borders (is non-specific
and does not help differentiate it from other conditions).
– CT gives improved diagnostic information and also provides operative planning
by evaluating the extent of the disease.
– FD has a ground glass pattern (56%), homogeneously dense pattern (23%) or a
cystic variety (21%).
10.
11. Treatment Options
– 1. RADICAL APPROACH: Complete excision of all diseased bone with
reconstruction.
– 2. CONSERVATIVE APPROACH: Skeletal reshaping with burring to restore
normal skeletal morphology.
– 3. MIDWAY APPROACH: Limited resection without sacrificing or injuring vital
structures. (Lower recurrence rate and requires fewer total operations but
slightly increased postoperative complication rate)
– Medical adjuncts include bisphosphonates, steroids and tamoxifen.
Radiotherapy has no role.
– If vision loss is noted, optic canal decompression is advised.
12. Chen and Nordhoff based their treatment approach to the occurrence in four
designated zones in the craniofacial skeleton:
Total excision for Zone 1 (fronto-orbital, zygomatic, and upper maxillary regions)
Conservative excision (contouring) for
Zone 2 (hair-bearing cranium),
Zone 3 (the central cranial base), and
Zone 4 (the tooth-bearing regions of the maxillary alveolus and mandible).
13.
14. Parry-Romberg Syndrome
– A progressive, acquired atrophy of the soft (skin/fat) and hard tissues
(cartilage/bone) of the face.
– Manifests as unilateral atrophy of the subcutaneous facial fat in the paramedial
area with equal frequency on both sides of the face.
– Atrophy of the skin, muscle, fascia, cartilage and bone may follow.
15. Clinical Findings
– Progressive hemifacial hypoplasia with regional fat atrophy.
– Medial canthal malpositioning.
– Enophthalmos.
– Dystopia.
– Skin hyperpigmentation.
– Most evident sign: loss of fullness in 3-D parameters (atrophy of orbital,
palpebral, zygomatic and masseter muscles) called coup de sabre sign (or mark
of the sword)
16.
17. Etiology and Pathogenesis
– Primarily characterized by soft tissue involvement but in severe cases bony,
ophthalmological, and/or neurological involvement occurs.
– Onset can vary from infancy, to early or mid-childhood, to adolescence, or even
adulthood.
– Rate of progression is unpredictable and may vary. Some undergo remission or
burnout after puberty.
18. Treatment
– Mild or moderate deformity: Serial fat grafting procedures. (Take of fat grafting
is less in the diseased region but improves in subsequent procedures due to
improved vascular milieu of the grafted bed)
– Severe deformity: For skeletally mature patients, dermal fat grafts or
adipofascial free flaps (parascapular or inframammary extended circumflex
scapular [IMECS] flaps) are accepted alternatives.
– IMECS flap provides excellent results but subsequent revision or debulking
procedures are necessary.
– In more severe manifestation, skeletal reconstruction and soft tissue
rearrangement are required.
19.
20.
21.
22. Treacher Collins Syndrome
– Bilaterally symmetrical dysostosis of craniofacial structures derived from the
first and second branchial arches.
– Wide variation in phenotypic expression
23. Clinical Findings
– Hypoplasia of the zygomatic complex and the mandible
– Antimongoloid slanting of palpebral fissures
– Coloboma of the lower eyelids
– Complete or partial cleft palate
– Atresia of external ear canals with abnormalities of the external ears
accompanied by conductive hearing loss
24.
25. Treatment Options
– Multiple staged procedures that are performed throughout childhood for
functional and aesthetic improvements.
– Infancy: Tracheostomy (standard) for severe airway obstruction.
– Mandibular distraction if obstruction is limited to the tongue base and
epiglottis or if sleep apnea develops.
– Dilatation or bony removal if choanal atresia is obstructing the posterior
nasopharyngeal airway.
26. – Before 2 years of age: Cleft lip repair, Cleft palate repair, Macrostomia (Tessier no. 7
cleft), or removal of preauricular skin tags. Optimizing hearing with BAHA (bone-
anchored hearing apparatus) is also beneficial.
– In Mid-childhood (ages 6-9 years of age): Corrective procedures may include
– Mandibular distraction lengthening (Staged procedure, addition of fat grafting,
vertical vector is recommended)
– Malar, zygomatic, and eyelid reconstruction
– Total external ear reconstruction (Two staged Firmin technique, if very low lobule or
anotia Four staged Brent technique)
27. – At Age 8-12 years: Malar/Orbital reconstruction with full thickness parietal skull
bone grafts for the zygomatic arch and lateral orbit, with split thickness grafts
for the orbital floor and with simultaneous upper to lower eyelid switch flaps
with lateral canthopexies.
– At Age 16-18 years: After facial skeletal maturity, Correction of residual jaw
abnormalities using orthognathic techniques and a septorhinoplasty.
– For severe uncorrected form of TCS with airway compromise: Tessier described
l'integrale procedure combining a Le Fort II osteotomy, bilateral mandibular
advancement, orbital bone grafting and genioplasty
28.
29.
30. Pierre Robin Sequence
A congenital anomaly
– Triad of manifestations in neonates that include
– micrognathia
– glossoptosis,
– and upper airway obstruction
– Cleft palate deformity is an associated abnormality but not a requirement for
the sequence.
31.
32. Classification
Because PRS has been associated with other anomalies, it is often divided
– PRS: isolated
– PRS plus: with comorbidities, Stickler, 22q deletion
– Syndromic PKS: Treacher Collins syndrome, Nager syndrome
33. Treatment Options
– Most critical consequence is upper airway obstruction in neonatal period and
the severity may not always correlate with the degree of anatomic deformity
(micrognathia).
– Mild Obstruction: Prone positioning (if airway patency not maintained then
intubation using a nasopharyngeal tube or endotracheal tube maybe necessary)
– Moderate/Severe Obstruction: Glossopexy, Subperiosteal mandibular stripping,
mandibular distraction, and tracheostomy.
– If cleft palate exists, delay in the repair is recommended (at 18 months or more
as compared to 10-12 months)
34.
35. Complications
With mandibular distraction:
– Respiratory Failure
– Relapse
– Nerve injury
– Tooth injury
– Infection
– Incorrect distraction vector,
– Device failure.
These complications can be minimized with the use of proper operative indications and
perioperative protocols including appropriate rate (2 mm), length (15-30 mm), and
extubation times (after 7 days)
36.
37. Moebius Syndrome
– Bilateral absence of CN VI and VII resulting in mask-like facies, bilateral facial
paralysis, and the inability to abduct the globes (palsy of the abducens or sixth
CN)
– Clinically, paralysis of the orbicularis oculi is the first sign of Moebius syndrome
detected in the neonate, prompting consultation by pediatricians and
neonatologists.
38. Clinical Findings
– Ptosis
– Strabismus
– Epicanthal folds
– Hypertelorbitism
– Lagophthalmos
– Nystagmus
– Nasal root widening
– Small mouth opening and
downturned commissures
– Intraoral manifestations include
tongue hypoplasia, oligodontia,
mandibular hypoplasia, cleft palate
and poor palatal mobility associated
with difficulties in feeding and
speech
– Absence or hypoplasia of the sternal
head of the pectoralis major
– Scoliosis (14%)
– Clubfoot (40-50%)
41. Etiology and Pathogenesis
– Prevalence of Moebius syndrome is estimated at 1 in 50,000 with equal
distribution between male and female
– Although the pathogenesis is not well understood, both environmental and
genetic relationships have been described.
– Moebius syndrome may also be related to genetic causes inherited in an
autosomal dominant, autosomal recessive, or X-linked pattern.
– Its relation to misoprostol was described in Brazil in the 90s where 49% of the
mothers out of 96 had taken misoprostol during the first trimester of pregnancy.
42. Treatment Options
– Reconstructive surgery is a multidisciplinary endeavor requiring
– Ophthalmology for Strabismus Correction
– Orthopedic Surgery for Clubfoot Correction
– Plastic Surgery for Facial Reanimation for smile restoration.
– In the absence of suitable facial nerves as the donor innervator, most
commonly used one staged procedure for functional muscle transfer is the
partial gracilis free muscle flap.
– If CN V is functional, lengthening temporalis myoplasty or Labbe procedure
may be performed.
43.
44. Treatment for Lagophthalmos
– Auxiliary static procedures for the treatment of lagophthalmos are, common
and beneficial for globe protection.
– A number of modalities have been described to treat lagophthalmos, the most
common and widely used is the placement of a gold or platinum weight in the
upper eyelid.
– Two positions have been described for the weight placement: (1) pretarsal
(weight is secured to the tarsus underneath the orbicularis oculi muscle)
– and (2) postseptal (the septum is incised and the weight is placed immediately
superior to the tarsus)
45. Complications
– Quantifiable complications such as hematoma and flap failure infacial
reanimation are rare
– However, qualitative and aesthetic issues such as incomplete correction, lack of
strength in smile, asymmetry, and lack of Spontaneity are frequently present.
– The recent advent of more objective methods of analysis such as the FACE-
gram, an automated, objective assessment of facial movement, will likely assist
in assessing surgical outcomes.
46. Dermoid Cyst
– Benign, developmental malformations formed by inclusion ectodermal
elements.
– Differentiated from the typical epidermoid cysts by the presence of mature
adnexal structures such as hair and glands
– Frequently associated with skeletal abnormality
– More common in females
– Craniofacial dermoid cysts can be generally divided into lateral and midline
47.
48. Lateral cysts are further divided
into
Frontotemporal region
– Most common type
– Majority near the lateral eyebrow
– Lesion deep to skin
– No evidence of sinus ostia
– Firm lesions, present as discreet nodule
– Rarely associated with intracranial
extension
– No imaging required before surgical
resection
Orbit
– 2nd most common
– Orbit
– Depending on size, visual obstruction may
occur
– Traverse sutures such as frontozygomatic
suture
– Has an intraorbital and extraorbital
component
49. Midline dermoid cysts
– Maybe found in upper, middle or lower face
– More extensive and potential intracranial involvement (19%)
– A CT scan/MRI is a must to define the limits of the dermoid.
– Within the nasoethmoid region, the external clinical manifestations may be
particularly mild. A small punctum, bulge of the glabella, or widening of the
nasal dorsum may be seen.
– However mild clinical presentations may portend extensive involvement of
internal structures and intracranial involvement.
– Have higher propensity to display puncta and sinus ostia
50. – Owing to the presence of adnexal structures, dermoid cysts have the capability
of enlarging over time.
– Although rare, complications of dermoid cysts include infection and calvarial
osteomyelitis.
51. Treatment Options
– Surgery is the only available option.
– In lateral dermoids of the frontotemporal or orbital region, excision can be
approached with an incision directly over the dermoid or hidden in the supratarsal
fold.
– Two things separate it from epidermal cyst, because the embryologic origins of the
cyst formation, dissection of the cyst should be through the soft tissues to the
periosteum. Additionally, a skeletal depression will be frequently found underneath
the cyst.
– In nasal dermoids, diagnosis requires imaging with an initial fine-cut CT scan. The
two signs on CT scan suggestive of intracranial extension are a patent foramen
cecum and a bifid crista galli
52. – If either finding is present or suspicious for intracranial extension, an MRI
should be performed next.
– If the MRI is negative, simple excision may be performed. In nasal dermoids,
positioned inferiorly, an open rhinoplasty approach should be considered.
– If the MRI is positive for intracranial extension, excision of the dermoid requires
neurosurgical involvement
53. Complications
– Rare but may include:
– Incomplete excision
– Recurrence
– Infection
– Resection of dermoids with intracranial extension may be complicated with
osteomyelitis, incomplete resection, or cerebrospinal fluid leak.
