Frontofacial surgery in children and adolescents: techniques, indications, outcomes.

The techniques of frontofacial surgery are most valuable in the clinical management of complex craniofacial deformity to achieve a range of functional and aesthetic gains in children from infancy to maturity. A variety of complex craniofacial osteotomies that can be used to separate the orbits from the skull base have been described. In addition, the combination of circumorbital release and pterygomaxillary disjunction allows advancement of the orbitomaxillary segment for powerful clinical benefit. For the purpose of this article, the principal frontofacial strategies include the monobloc frontofacial advancement by distraction (MBD), frontofacial bipartition advancement by distraction (BpD), orbital box osteotomy (FFBx), and frontofacial bipartition (FFBp). These techniques are broadly used for two purposes: to allow for the translocation of one or both orbits to correct orbitofacial disproportion (hypertelorism, vertical orbital dystopia, or a combination of both), or to advance the orbitomaxillary segment for orbital volume expansion and protection of the eye in syndromes featuring severe exorbitism (oculo-orbital disproportion). Here we describe aspects of our experience of frontofacial surgery in the Craniofacial Centre at Great Ormond Street Hospital for Children, London, with reference to the principles underpinning frontofacial surgical techniques, their challenges, and their impact on function and aesthetics.

A clinical analysis of Dupuytren's disease of the thumb.

Although Dupuytren's disease of the thumb was first described in 1833, the literature on this subject is limited to a few anatomical and clinical studies. This study examined the pattern of cords of Dupuytren's disease in 260 thumbs in 181 consecutive patients with evidence of disease relating to the thumb attending an out-patient clinic over a period of 36 months. Discrepancies in the literature are discussed in the light of the findings of this more detailed analysis and a simple but practical pictorial system for recording disease severity and detailing progression over time is presented.

Expression of FGFR-2 and FGFR-3 in the normal human fetal orbit.

AIMS: To demonstrate the expression patterns of two fibroblast growth factor receptors (FGFR-2 and FGFR-3) in the normal human fetal orbit. METHODS: 6 microm orbital slide sections were prepared from 12 week old human fetal material obtained within established ethical guidelines. Radioactive in situ hybridisation techniques were used to demonstrate the expression patterns of FGFR-2 and FGFR-3 within these sections. Only one foetus had appropriate orbital sections taken. RESULTS: FGFR-2 was expressed within the extraocular muscles (EOMs) and the optic nerve sheath and to a lesser degree within the orbital periosteal margins and the cranial sutures. FGFR-3 was expressed a lot within the periosteal margins and cranial sutures but not within either the EOMs or the optic nerve sheath. CONCLUSIONS: FGFR-2 and FGFR-3 are differentially expressed within different orbital components. FGFR-2 gene mutations may be responsible for craniosynostotic syndromes such as Crouzon, Pfeiffer, and Apert, while those in the FGFR-3 gene may cause isolated unicoronal synostosis. EOMs may be histologically abnormal in cases of Apert, Pfeiffer, and Crouzon syndromes but not isolated unicoronal synostosis. The pattern of expression of FGFR-2 in the normal human fetal orbit may explain some of the EOM histological findings seen in some cases of Apert, Pfeiffer, and Crouzon syndromes.

Tripier's innervated myocutaneous flap 1889.

A translation of Tripier's publication in 1889 is presented. This paper includes description of two bipedicled myocutaneous flaps based on the orbicularis oculi muscle and designed as 'bucket-handles'. The author intended that these flaps be a transfer of innervated and functioning muscle and designed the flaps with full awareness of the need to maintain the original muscle length and nerve supply to retain function. This paper was, perhaps, the first description of an innervated myocutaneous flap. A third and new variant of the Tripier flap is described and illustrated.

The fascial planes of the temple and face: an en-bloc anatomical study and a plea for consistency.

Many investigators have detailed the soft tissue anatomy of the face. Despite the broad reference base, confusion remains about the consistent nature of the fascial anatomy of the craniofacial soft tissue envelope in relation to the muscular, neurovascular and specialised structures. This confusion is compounded by the lack of consistent terminology. This study presents a coherent account of the fascial planes of the temple and midface. Ten fresh cadaveric facial halves were dissected, in a level-by-level approach, to display the fascial anatomy of the midface and temporal region. The contralateral 10 facial halves were coronally sectioned through the zygomatic arch at a consistent point anterior to the tragus. These sections were histologically prepared to demonstrate the fascial anatomy en-bloc with the skeletal and specialised soft tissues. Three generic subcutaneous fascial layers consistently characterise the face and temporal regions, and remain in continuity across the zygomatic arch. These three layers are the superficial musculo-aponeurotic system (SMAS), the innominate fascia, and the muscular fasciae. The many inconsistent names previously given to these layers reflect their regional specialisation in the temple, zygomatic area, and midface. Appreciation of the consistency of these layers, which are in continuity with the layers of the scalp, greatly facilitates an understanding of applied craniofacial soft tissue anatomy.

Thumb function without the abductor pollicis longus and extensor pollicis brevis.

Two patients are reported in which one thumb has lost the abductor pollicis longus and extensor pollicis brevis tendons. This is an uncommon injury in isolation, and these cases provide an opportunity to assess the functional importance of these musculotendinous units.

From genotype to phenotype: the differential expression of FGF, FGFR, and TGFbeta genes characterizes human cranioskeletal development and reflects clinical presentation in FGFR syndromes.

Mutations in the fibroblast growth factor receptor (FGFR) genes 1, 2, and 3 are causal in a number of craniofacial dysostosis syndromes featuring craniosynostosis with basicranial and midfacial deformity. Great clinical variability is displayed in the pathologic phenotypes encountered. To investigate the influence of developmental genetics on clinical diversity in these syndromes, the expression of several genes implicated in their pathology was studied at sequential stages of normal human embryo-fetal cranial base and facial ossification (n = 6). At 8 weeks of gestation, FGFR1, FGFR2, and FGFR3 are equally expressed throughout the predifferentiated mesenchyme of the cranium, the endochondral skull base, and midfacial mesenchyme. Both clinically significant isoforms of FGFR2, IgIIIa/c and IgIIIa/b, are coexpressed in maxillary and basicranial ossification. By 10 to 13 weeks, FGFR1 and FGFR2 are broadly expressed in epithelia, osteogenic, and chondrogenic cell lineages. FGFR3, however, is maximally expressed in dental epithelia and proliferating chondrocytes of the skull base, but poorly expressed in the osteogenic tissues of the midface. FGF2 and FGF4, but not FGF7, and TGFbeta1 and TGFbeta3 are expressed throughout both osteogenic and chondrogenic tissues in early human craniofacial skeletogenesis. Maximal FGFR expression in the skull base proposes a pivotal role for syndromic growth dysplasia at this site. Paucity of FGFR3 expression in human midfacial development correlates with the relatively benign human mutant FGFR3 midfacial phenotypes. The regulation of FGFR expression in human craniofacial skeletogenesis against background excess ligand and selected cofactors may therefore play a profound role in the pathologic craniofacial development of children bearing FGFR mutations.

Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes.

OBJECT: Heterogeneous mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause a range of craniosynostosis syndromes. The specificity of the Apert syndrome-affected cranial phenotype reflects its narrow mutational range: 98% of cases of Apert syndrome result from an Ser252Trp or Pro253Arg mutation in the immunoglobulin-like (Ig)IIIa extracellular subdomain of FGFR2. In contrast, a broad range of mutations throughout the extracellular domain of FGFR2 causes the overlapping cranial phenotypes of Pfeiffer and Crouzon syndromes and related craniofacial dysostoses. METHODS: In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is investigated in Apert syndrome (P253R mutation)- and Pfeiffer syndrome (C278F mutation)-affected fetal cranial tissue and is contrasted with healthy human control tissues. Both FGFR1 and FGFR3 are normally expressed in the differentiated osteoblasts of the periosteum and osteoid, in domains overlapped by that of FGFR2, which widely include preosseous cranial mesenchyme. Expression of FGFR2, however, is restricted to domains of advanced osseous differentiation in both Apert syndrome- and Pfeiffer syndrome-affected cranial skeletogenesis in the presence of fibroblast growth factor (FGF)2, but not in the presence of FGF4 or FGF7. Whereas expression of the FGFR2-IgIIIa/b (KGFR) isoform is restricted in normal human cranial osteogenesis, there is preliminary evidence that KGFR is ectopically expressed in Pfeiffer syndrome-affected cranial osteogenesis. CONCLUSIONS: Contraction of the FGFR2-IgIIIa/c (BEK) expression domain in cases of Apert syndrome- and Pfeiffer syndrome-affected fetal cranial ossification suggests that the mutant activation of this receptor, by ligand-dependent or ligand-independent means, results in negative autoregulation. This phenomenon, resulting from different mechanisms in the two syndromes, offers a model by which to explain differences in their cranial phenotypes.

Aggressive keloid scarring of the Caucasian wrist and palm.

Keloid scarring of the distal upper extremity is very rare. We report a Caucasian woman who presented with aggressive keloids of the hand and wrist causing De Quervain's syndrome, superficial radial-nerve entrapment and ulnar-nerve compression at the wrist. Multiple operations were required to alleviate her symptoms. A number of management conundrums arose, requiring defensive planning to pre-empt the possible complications of recurrent keloid scarring as a result of the surgical procedures.

Differential expression of fibroblast growth factor receptors in human digital development suggests common pathogenesis in complex acrosyndactyly and craniosynostosis.

The Apert hand is characterized by metaphyseal fusions of the metacarpals and distal phalanges, symphalangism, and soft-tissue syndactyly. More subtle skeletal anomalies of the limb characterize Pfeiffer and Crouzon syndromes. Different mutations in the fibroblast growth factor receptor 2 (FGFR2) gene cause these syndromes, and offer the opportunity to relate genotype to phenotype. The expression of FGFR1 and of the Bek and KGFR isoforms of FGFR2 has, therefore, been studied in human hand development at 12 weeks by in situ hybridization. FGFRs are differentially expressed in the mesenchyme and skeletal elements during endochondral ossification of the developing human hand. KGFR expression characterizes the metaphyseal periosteum and interphalangeal joints. FGFR1 is preferentially expressed in the diaphyses, whereas FGFR2-Bek expression characterizes metaphyseal and diaphyseal elements, and the interdigital mesenchyme. Apert metaphyseal synostosis and symphalangism reflect KGFR expression, which has independently been quantitatively related ex vivo to the severity of clinical digital presentations in these syndromes. Studies in avian development implicate FGF signaling in preventing interdigital apoptosis and maintaining the interdigital mesenchyme. Herein is proposed that in human FGFR syndromes the balance of signaling by means of KGFR and Bek in digital development determines the clinical severity of soft-tissue and bony syndactyly.

Enigma of raised intracranial pressure in patients with complex craniosynostosis: the role of abnormal intracranial venous drainage.

OBJECT: In this study the authors investigated whether patterns of intracranial venous drainage in children with complex craniosynostosis associated with raised intracranial pressure (ICP) were abnormal and, thus, could support the theory that venous hypertension is a major contributor to raised ICP that can lead to impaired visual function or even blindness in these patients. METHODS: The authors analyzed the anatomy of intracranial venous drainage as demonstrated in the results of 24 angiography studies obtained in 23 patients, all of whom had either a craniosynostosis-related syndrome (18 patients) or a nonsyndromic multisutural synostosis (five patients). Twenty-one patients had experienced raised ICP (in 19 patients diagnosis was based on invasive ICP monitoring and in two patients on clinical grounds alone) 1 to 6 weeks before undergoing angiography. Of the two remaining patients (both with Apert syndrome) whose ICP monitoring was normal immediately before angiography, each had undergone two previous cranial vault expansion procedures. On results of 18 angiography studies a 51 to 99% stenosis or no flow at all could be observed in the sigmoid-jugular sinus complex either bilaterally (11 patients) or unilaterally (seven patients). In 11 of these patients a florid collateral circulation through the stylomastoid emissary venous plexus was also seen. Two angiography studies were performed in one patient with Crouzon syndrome. A comparison of the two studies demonstrated a progression of the abnormal venous anatomy in that case. The authors found no obvious correlation between each patient's baseline ICP and the degree of abnormality of their venous anatomy, as judged on the basis of a venous-phase angiography severity score. CONCLUSIONS: Based on their findings, the authors assert that in children with complex forms of craniosynostosis in whom other factors, such as hydrocephalus, are absent, abnormalities of venous drainage that particularly affect the sigmoid-jugular sinus complex produce a state of venous hypertension that, in turn, is responsible for the majority of cases of raised ICP. The incidence of these changes is unknown, but an analysis of the ages of the children in this study indicated that the period of particular vulnerability to the effects of venous hypertension lasts until the affected child is approximately 6 years old. After that age the collateral venous drainage through the stylomastoid plexus will likely become sufficient to allow ICP to normalize.

Contact dermatitis complicating pinnaplasty.

Proflavine allergy is uncommon, occurring in approximately 6% of patients attending contact dermatitis clinics. Proflavine wool is used by many surgeons in the UK as a dressing that can be moulded to conform to the contours of a corrected prominent ear. It may have bacteriostatic properties. We present a case where contact dermatitis in response to proflavine developed after pinnaplasty. This caused diagnostic confusion, a lengthened hospital stay and an unsightly hypertrophic scar.

Double tongue, intraoral anomalies, and cleft palate--case reports and a discussion of developmental pathology.

OBJECTIVE: Isolated cleft palate is the most common presentation of the nonsyndromic cleft lip/palate combinations and is multifactorial in etiology. We report two cases of children with clefts of the secondary palate coexistent with double tongue and in either case mandibular epulis or superiorly displaced salivary gland. RESULTS AND DISCUSSION: In each case, the palatal cleft correlated anatomically with the intraoral space-occupying lesion. The ratio of tongue volume to intraoral volume during palatogenesis is discussed with reference to the pathogenesis of cleft palate. These clinical cases propose the model of a unifying sequence of developmental events whereby deformation of palatal shelf elevation results in secondary palatal clefting.

Maxillary distraction osteogenesis in Pfeiffer's syndrome: urgent ocular protection by gradual midfacial skeletal advancement.

Distraction osteogenesis is increasingly recognised as a potentially useful technique to achieve the co-ordinated augmentation of craniofacial skeletal and soft tissue. A case is presented where bilateral maxillary distraction was successfully used to advance the midface in the treatment of recurrent ocular dislocation, in a 10-month-old boy with Pfeiffer's syndrome.

Extraction site healing complicated by neoplasia.

Malignant melanoma arises from melanocytes, dendritic cells of neural crest origin. Melanocytes occur within the basal layers of the epidermis, mucous membranes, retina and uveal structures of the eye and the meninges. Rarely, they may also occur in the bladder, adrenal medulla and ovaries. These melanomas metastasise widely and metastases in the oral mucosa have been seen in about 3% of patients with cutaneous melanoma, and can complicate the healing of extraction sites. This paper presents a case of malignant melanoma of the mandible.

Residency experienced--in pursuit of structured apprenticeship....

British surgical training is currently undergoing an upheaval. The introduction of Higher Surgical Training (HST) as a continuum to the consultant grade will have wide implications. I recently undertook a year as a resident in general surgery at the Beth Israel Hospital, Boston, USA; in lieu of a second year as an SHO in the UK. This paper compares the American Residency system with that evolving in Britain.