Ce diaporama a bien été signalé.
Nous utilisons votre profil LinkedIn et vos données d’activité pour vous proposer des publicités personnalisées et pertinentes. Vous pouvez changer vos préférences de publicités à tout moment.
Dr.Akasha Amber
PGR Plastic & reconstructive surgery
BVH Bahawalpur
 Fibrous dysplasia
 Moebius syndrome
 Romberg disease(progressive hemifacial
atrophy)
 Treacher collins syndrome
 Con...
 replacement of the normal lamellar cancellous
bone by abnormal fibrous tissue
 Benign,sporadic
 Non hereditary,non congenital
 Genetic mutation
 Late childhood and adolescence
 Female> male
 Axi...
 Mutation in G protein signalling,cellular
transduction mechanism
G
•Hydrolysis of GTP into GDP
•Activation of cAMP
•Cont...
 Monostotic/monocystic FD:
◦ 70-80%
◦ 25% craniofacial involvement
◦ <0.5% malignant degenration
◦ mandible
 Polyostotic...
Leontiasis ossea
 Expansile growth of bone mass
 Disfigurement and fuctional problems
 Painless or become painful
 Maxilla
 Orbit
 Ax...
1. Pathological fracture
2. Bone deformity
3. blindness
4. Massive cartilage hyperplasia
5. Accelerated bone growth
6. Sar...
 Nonossifying fibroma
 Bone hemangioma
 Hyperparathyroidism
 Paget’s disease
 Aneurysmal bone cyst
 Clinical
 X-Rays
 CT Scan
 Bone biopsy(avoided as much as possible)
 Depends on site; severity
 Aesthetic imbalance,facial
disfigurement,functional compromise
 Surgical:
◦ Contour reducti...
 Rare
 Absence of certain cranial nerves
 6 & 7 >>> 3rd,9th,10th,12th
 Classic moebius syndrome
 Masklike face,inabil...
 Inability of facial animation deviation,mask like
face
 Inability of lateral eye deviation,ptosis,epicanthal
folds, nys...
 Exact etiology???
 4 proposed mechanisms
◦ Cranial nerve nuclei hypoplasia/aplasia
◦ Destruction of cranial nerve nucle...
 Supportive
 Special feeding instructions,feeding bottles
 Surgery;
 Facial reanimation
◦ Microvascular free muscle tr...
 Non-genetic, non-hereditary, non-congenital
disease
 SLOW PROGRESSION
 Typical onset: 1st & 2nd decade of life
 Typic...
 ???
 3 hypothesis
◦ 1. Infection hypothesis
◦ 2.Trigeminal-peripheral neuritis hypothesis
◦ 3. Sympathetic hypothesis
...
 Skin changes
 Subcutanous fat atrophy
 Coup de sabre(cut of sabre)
 Muscle involvement
 Skeletal involvement
 crani...
 Overcorrection of deformity
 Injection of fat,hyaluronic acid
derivatives,collagen injections
 Dermal or fat graft or ...
 Mandibulofacial dysostosis
 Autosomal dominant
 Mutation in TCOF1 GENE(5q31.3-5q33.3)
 Denovo or familial transmissio...
Zygomatic bone
Midface
Mandible
Chin
Middle and external ear
Hair line
Palpebral fissures
Lower lid
Nose
Anterior open bit...
 Infancy measures:
◦ Airway,tracheostomy,feeding
 Goal:
◦ correct both lower eyelids & craniofacial skeleton
 For eyeli...
 Soft tissue deficiency;coverage problems
 Dermal fat grafts for malar deficiency
 Nose defomity;rhinoplasty
 Cleft pa...
type I-normal architecture, small size
of mandible & TMJ
type IIA- moderate hypoplasia of
mandible,ramus and condyle
some ...
 For type I & IIA:
◦ TMJ functions normal
◦ During adolescence,orthognathic procedures e.g. SAGITTAL
SPLIT OSTEOTOMY of m...
 Common benign condition
 Common in females
 Grouped into two:
◦ Demoid inclusion cysts of lateral upper orbit,upper
la...
 Presentation:
 Orbital group present as firm nodular lesions,
few mm to 1-2cm,slowly enlarging, no
punctum
 Nasal grou...
 Orbital/periorbital cysts:
 Entrapment of migrating cells below surface
along lines of embryologic fusion
 Nasal cysts...
 Complete surgical excision for orbital & periorbital
lesions
 For nasal dermoids:
 Preop CT Scan through anterior cran...
 Genetic disorder
 Cutaneous and subcutaneous nodular tumors
 Central and peripheral nerve involvement
 Peripheral neu...
 Café au lait spots
 Axillary and inguinal freckling
 Lisch nodules
 Neurofibromas
 Optic glioma
 Brainstem gliomas,...
 Localized cutaneous neurofibromas
 Diffuse cutaneous neurofibromas
 Localized intraneural neurofibromas
 Massive soft...
 In peripheral nerve sheath neurofibromas,known as
malignant schwanomas,malignant peripheral nerve sheath
tumors
 Pain i...
 Management of cranioorbital disorder:
 (orbitopalpebral neurofibromas,sphenoid wing dysplasia)
 Pulsatile exophthalmos...
 Surgery
◦ Excision and reconstruction with onlay bone
grafts,dermal-facial-fat grafts,microvascualr free
tissue transfer...
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Miscellaneous craniofacial disorders
Vous avez terminé ce document.
Télécharger et lire hors ligne.
Prochain SlideShare
What to Upload to SlideShare
Suivant
Prochain SlideShare
What to Upload to SlideShare
Suivant
Télécharger pour lire hors ligne et voir en mode plein écran

Partager

Miscellaneous craniofacial disorders

Télécharger pour lire hors ligne

grab

Livres associés

Gratuit avec un essai de 30 jours de Scribd

Tout voir

Livres audio associés

Gratuit avec un essai de 30 jours de Scribd

Tout voir

Miscellaneous craniofacial disorders

  1. 1. Dr.Akasha Amber PGR Plastic & reconstructive surgery BVH Bahawalpur
  2. 2.  Fibrous dysplasia  Moebius syndrome  Romberg disease(progressive hemifacial atrophy)  Treacher collins syndrome  Congenital dermoid tumors  Neurofibromatosis
  3. 3.  replacement of the normal lamellar cancellous bone by abnormal fibrous tissue
  4. 4.  Benign,sporadic  Non hereditary,non congenital  Genetic mutation  Late childhood and adolescence  Female> male  Axial & craniomaxillofacial (maxilla most frequent)  Rarely malignant
  5. 5.  Mutation in G protein signalling,cellular transduction mechanism G •Hydrolysis of GTP into GDP •Activation of cAMP •Continued activation of G protein and cAMP •Earlier the mutation,extensive the disease
  6. 6.  Monostotic/monocystic FD: ◦ 70-80% ◦ 25% craniofacial involvement ◦ <0.5% malignant degenration ◦ mandible  Polyostotic FD:  20-30%  50% craniofacial involvement  McCune-Albright syndrome: ◦ Triad of PFD,precocious puberty & café-au-lai spots ◦ Endocrine hyperactivity disorders ◦ 4% malignant degenration
  7. 7. Leontiasis ossea
  8. 8.  Expansile growth of bone mass  Disfigurement and fuctional problems  Painless or become painful  Maxilla  Orbit  Axial skeleton fractures  Sphenoid  Pigmentation  Endocrine problems  Precocious puberty
  9. 9. 1. Pathological fracture 2. Bone deformity 3. blindness 4. Massive cartilage hyperplasia 5. Accelerated bone growth 6. Sarcomatous degeneration
  10. 10.  Nonossifying fibroma  Bone hemangioma  Hyperparathyroidism  Paget’s disease  Aneurysmal bone cyst
  11. 11.  Clinical  X-Rays  CT Scan  Bone biopsy(avoided as much as possible)
  12. 12.  Depends on site; severity  Aesthetic imbalance,facial disfigurement,functional compromise  Surgical: ◦ Contour reduction ◦ Resection & reconstruction with bone autograft or prosthesis  Medical: ◦ Aminobisphosphonate, pamidronate ◦ Inc BMD, radiological sign of cortical thickening(bone healing) and pain relief  Radiotherapy; contraindicated
  13. 13.  Rare  Absence of certain cranial nerves  6 & 7 >>> 3rd,9th,10th,12th  Classic moebius syndrome  Masklike face,inability of facial animation,inability of deviating the eyes laterally  10-15% mentally retarded
  14. 14.  Inability of facial animation deviation,mask like face  Inability of lateral eye deviation,ptosis,epicanthal folds, nystagmus ,strabismus  Broad nasal bridge  downslanting lip commisures  Hypoplasia of tongue  Hypoplastic mandible  insufficient mouth opening,poor suckling,poor palatal mobility,poor swallowing,drooling,poor growth  Coarse voice,speech impairement
  15. 15.  Exact etiology???  4 proposed mechanisms ◦ Cranial nerve nuclei hypoplasia/aplasia ◦ Destruction of cranial nerve nuclei ◦ Peripheral nerve abnormalities ◦ Primary Myopathy
  16. 16.  Supportive  Special feeding instructions,feeding bottles  Surgery;  Facial reanimation ◦ Microvascular free muscle transfer and nerve transfer
  17. 17.  Non-genetic, non-hereditary, non-congenital disease  SLOW PROGRESSION  Typical onset: 1st & 2nd decade of life  Typically involves skin,subcutaneous fat ◦ (muscle,bones,cartilage,trigeminal nerve)  Facial soft tissue(unilateral)  Common in females  Active phase of disease (involution/wasting away),for 2 to 10 years
  18. 18.  ???  3 hypothesis ◦ 1. Infection hypothesis ◦ 2.Trigeminal-peripheral neuritis hypothesis ◦ 3. Sympathetic hypothesis  On basis of Horner syndrome,pilomotor reflex changes,perspiration disorder,vasomotor disorder,unilateral mydriasis
  19. 19.  Skin changes  Subcutanous fat atrophy  Coup de sabre(cut of sabre)  Muscle involvement  Skeletal involvement  cranial nerve V  Peripheral nerve problems  CNS
  20. 20.  Overcorrection of deformity  Injection of fat,hyaluronic acid derivatives,collagen injections  Dermal or fat graft or dermo-fascial-fat grafts  GOLD STANDARD: microvascular free tissue transfer  Surgery:  Corrective osteotomies,bone grafting
  21. 21.  Mandibulofacial dysostosis  Autosomal dominant  Mutation in TCOF1 GENE(5q31.3-5q33.3)  Denovo or familial transmission(high)  I in 25000-50000  Bilateral symmetrical involvement  Abnormal development of structures from 1st and 2nd branchial arches
  22. 22. Zygomatic bone Midface Mandible Chin Middle and external ear Hair line Palpebral fissures Lower lid Nose Anterior open bite Incresed facial convexity A steep occlusal plane,with Decresed posterior facial height
  23. 23.  Infancy measures: ◦ Airway,tracheostomy,feeding  Goal: ◦ correct both lower eyelids & craniofacial skeleton  For eyelids: ◦ lid switch operation with banner flap(consisting of skin & orbicularis oculi muscle)  For hypoplastic zygoma: ◦ Split thickness & full thickness cranial bone grafts, vascularized calvarial grafts(temporalis muscle pedicle), rib grafts  Cranial bone graft as one T-shape piece, rib grafts fixed with plates in shape  Cortical onlay bone grafts; resorption
  24. 24.  Soft tissue deficiency;coverage problems  Dermal fat grafts for malar deficiency  Nose defomity;rhinoplasty  Cleft palate surgery  Ears: ◦ hearing aids  External ear defomities: ◦ Normally,deficient non hairy mastoid area skin ◦ Temporoparietal facia with skin graft ◦ Carefully plan incisions in proximity to ear ◦ Careful planning of timing of surgery of ear,mandible,celft palate and zygoma
  25. 25. type I-normal architecture, small size of mandible & TMJ type IIA- moderate hypoplasia of mandible,ramus and condyle some TMJ development ,symmetrical opening of the joint type IIB – moderate to severe hypoplasia of ramus, condyle, and TMj joint,it’s malpositioned inferiorly, medially, and anteriorly type III - total absence of mandibular ramus behind dentition,not suitable for bone distraction
  26. 26.  For type I & IIA: ◦ TMJ functions normal ◦ During adolescence,orthognathic procedures e.g. SAGITTAL SPLIT OSTEOTOMY of mandibular ramus, LE FORT I OSTEOTOMY of mid-face( to correct osslusal plane, close anterior open bite), OSSEOUS GENIOPLASTY for chin  In type IIA & IIB: ◦ MANDIBULAR OSTEOGENESIS RECONSTRUCTION  Type III: ◦ Reconstruction with COSTOCHONDRAL GRAFTS ◦ (6-10 YEARS OG AGE)  SECONDARY DOUBLE JAW SURGERY
  27. 27.  Common benign condition  Common in females  Grouped into two: ◦ Demoid inclusion cysts of lateral upper orbit,upper lateral orbital rim  80% lateral upper orbital rim,upper lateral orbit  10% medial upper orbit ◦ Dermoid cysts on nasal area  5-10% ◦ Different location,presentation and etiologies
  28. 28.  Presentation:  Orbital group present as firm nodular lesions, few mm to 1-2cm,slowly enlarging, no punctum  Nasal group present as nasal nodular lesion with punctum or osteum over it,nasal pit,hair growth within punctum,intermittent sebum drainage,cellulitis,abscess,chronic draining sinus track
  29. 29.  Orbital/periorbital cysts:  Entrapment of migrating cells below surface along lines of embryologic fusion  Nasal cysts:  Nasocranial deep trilaminar theory; failure of separation of dura from the nasal skin and dure recedes back pulling on the ectodermal tissue
  30. 30.  Complete surgical excision for orbital & periorbital lesions  For nasal dermoids:  Preop CT Scan through anterior cranial base to look for intracranial extension; ◦ Bifid crista galli and patent foramen cecum indicate intracranial extension  If CT SCAN +ve,go for MRI  If MRI +VE ◦ go for craniotomy,if equivocal or negative then simple lesion excision and craniotomy if needed
  31. 31.  Genetic disorder  Cutaneous and subcutaneous nodular tumors  Central and peripheral nerve involvement  Peripheral neurofibromatosis/neurofibromatosis type1  Central neurofibromatosis/neurofibromatosis type2  NFI due to mutation in tumor suppresor gene located on 11.2 band of long arm of chromosome 17,it’s autosomal dominant  NF2 is due to mutation in gene in middle of long arm of chromosome 22  NF1 more frequent than NF2
  32. 32.  Café au lait spots  Axillary and inguinal freckling  Lisch nodules  Neurofibromas  Optic glioma  Brainstem gliomas, astrocytomas, meningiomas, epedyomas, medulloblastomas, malignant schwanomas  Sphenoid wing dyslasia, macrocephaly, scoliosis, thining of long bone cortex,anterior tibial bowing
  33. 33.  Localized cutaneous neurofibromas  Diffuse cutaneous neurofibromas  Localized intraneural neurofibromas  Massive soft tissue neurofibromas  Plexiform neurofibromas: ◦ Hypertrophy of soft tissue,hyperpigmentation or hypertrichosis of overlying skin ◦ On trunk,head & neck and extremities ◦ Craniofacial plexiform Neurofibromas;2nd & 3rd division of trigeminal nerve;facial disfigurement
  34. 34.  In peripheral nerve sheath neurofibromas,known as malignant schwanomas,malignant peripheral nerve sheath tumors  Pain indictaes malignant transformation  Confirmation: biopsy  Treatment: surgical resection
  35. 35.  Management of cranioorbital disorder:  (orbitopalpebral neurofibromas,sphenoid wing dysplasia)  Pulsatile exophthalmos,large bony orbit,orbital neurofibroma,aplasia or hypoplasia of sphenoid wing with herniation of temporal lobe into orbit  Surgical removal of neurofibroma and sphenoid defect reconstructed via bone graft  In complete visual loss,exenteration of eyeball,temporal lobe repositioned back and defect covered with bone graft  Composite cranial bone graft with titanium mesh recommended  Need for repeat surgery
  36. 36.  Surgery ◦ Excision and reconstruction with onlay bone grafts,dermal-facial-fat grafts,microvascualr free tissue transfer  Chemotherapy: ◦ Imitanib mesylate (gleevec and novartis)
  • dranudeep

    Dec. 19, 2020
  • kunalsayani

    Nov. 28, 2019
  • AntaraDebnath

    Jan. 15, 2019
  • NyageLombi

    Jan. 13, 2019

grab

Vues

Nombre de vues

470

Sur Slideshare

0

À partir des intégrations

0

Nombre d'intégrations

3

Actions

Téléchargements

22

Partages

0

Commentaires

0

Mentions J'aime

4

×