Hyaline Fibromatosis Syndrome: Early Outcomes Following Major Craniofacial Mass Excision.

Hyaline fibromatosis syndrome (HFS) is a rare congenital disorder characterized by abnormal hyaline deposition within soft tissues. Hyaline fibromatosis syndrome manifests in 2 distinct forms: (1) infantile systemic hyalinosis and (2) juvenile hyaline fibromatosis. Infantile systemic hyalinosis, the more severe form, typically emerges in early childhood with extensive systemic involvement. In contrast, juvenile HFS is less severe, allowing patients to survive into adulthood. Common clinical manifestations include thickened skin, hyperpigmented patches, gingival hypertrophy, skin nodules, and progressive severe joint contractures, leading to significant morbidity and potential mortality. This case report describes a 7-year-old child who was diagnosed with HFS and presented with a very large, ulcerated, rapidly expanding craniofacial mass. The patient underwent successful treatment involving a multidisciplinary medical team and strategic surgical intervention, achieving favorable postoperative outcomes.

Prognostic Risks for Tracheostomy in Pierre Robin Sequence: A Cohort From a Tertiary Hospital in Thailand.

BACKGROUND: Pierre Robin sequence (PRS), characterized by micrognathia, glossoptosis, cleft palate, and obstructed airways, is one of the craniofacial conditions challenging various approaches to managing compromised airways, ranging from conservative measures to invasive airway surgery. This study was conducted to identify predictive risk factors for tracheostomy in the PRS. METHODS: A retrospective chart review was conducted at a tertiary referral hospital in Thailand. Children diagnosed with PRS from January 2010 to December 2021 were enrolled. Univariate and multivariate analysis methods were used to identify the risk factors. RESULTS: Sixty-five patients with PRS were identified in electronic medical records, but 6 were excluded. Thirteen of the remaining 59 patients underwent tracheostomy. There were no significant differences in sex, preterm gestational age, cleft palate, associated syndromes, chromosome abnormalities, or cardiac or neurological involvement between patients who received tracheostomy and those who did not. However, patients with oropharyngeal dysfunction who received tracheostomy tended to use a nasogastric tube or percutaneous gastrostomy 92.3% of the time ( P = 0.043). In addition, patients with abnormal airways from endoscopy were more likely to undergo tracheostomy (odds ratio, 2.17; 95% confidence interval [CI], 1.20-3.90). Interestingly, patients with a sum of Apgar scores at 1 and 5 minutes <15 were more likely to undergo tracheostomy (adjusted odds ratio, 9.91; 95% CI, 1.32-74.52). Furthermore, patients with at least 3 identified comorbidities were more likely to undergo tracheostomy (adjusted odds ratio, 11.34; 95% CI, 1.16-111.15). CONCLUSIONS: The need for tracheostomy depends on comorbidities, Apgar scores, and abnormal airway anatomy. Feeding methods can become more complex with tracheostomy. Prognostic risk factors can help guide treatment and counseling for health care workers and caregivers.

Structural Rhinoplasty as an Effective Surgical Approach for Frontonasal Dysplasia.

Frontonasal dysplasia (FND), a rare congenital craniofacial disorder, primarily influences the development of midline craniofacial structures. A notable manifestation of this condition is nasal hypoplasia. This report details the treatment of a 19-year-old male patient diagnosed with FND accompanied by a severe case of nasal hypoplasia. The authors used structural rhinoplasty to achieve total nasal reconstruction. Albeit with some minor sequelae, the outcome of this surgery was markedly positive, enhancing both the cosmetic appearance and functional capacity of the nose. This case underscores the effectiveness of structural rhinoplasty as a feasible therapeutic approach for individuals suffering from FND and its associated nasal hypoplasia.

Secondary metopic craniosynostosis after posterior cranial decompression in cloverleaf skull deformity.

Cloverleaf skull deformity or Kleeblattschadel syndrome is a severe condition where multiple cranial sutures are absent and prematurely fused, leading to a trilobate head shape. The remaining open sutures or fontanelles compensate for rapid brain expansion, while the constricted fused calvarium restricts brain growth and results in increased intracranial pressure. Recent data show that early posterior cranial and foramen magnum decompression positively affects infants with cloverleaf skulls. However, long-term sequelae are still rarely discussed. We hereby report a child who developed secondary metopic craniosynostosis after posterior cranial decompression, which required a front-orbital advancement and cranial remodelling as a definitive procedure.

Re-imagining early cloverleaf skull deformity management from front to back approach-30 years on.

The cloverleaf skull deformity remains among the most complicated craniofacial conditions to successfully manage. Many cases achieve largely unsatisfactory outcomes due to the requirement for frequent reoperation on the cranial vault and failure to deal with all the elements of the craniofaciostenosis in a timely fashion. Early cranial vault surgery without addressing the cranial base deformity and its attendant cerebrospinal fluid flow changes is invariably challenging and disappointing. A recent focus on the expansion of the posterior cranial vault as a primary procedure with the greater volume change allows a delay in fronto-orbital advancement and reduced need for repeat surgery. We herein describe three cases of complex multisuture craniosynostosis with cloverleaf skull deformity who underwent neonatal posterior cranial vault decompression along with foramen magnum decompression. Our report examines the safety and rationale for this pre-emptive surgical approach to simultaneously deal with the cranial vault and craniocervical junction abnormalities and thus change the early trajectory of these complex cases.

Metopic and Sagittal Craniosynostosis in Williams Syndrome.

Craniosynostosis has been previously reported in patients with Williams syndrome. Due to the associated significant cardiovascular anomalies, with an attendant increased risk of death under anaesthesia, most patients have been managed conservatively. Here we report the multidisciplinary approach in a 12-month-old female infant with Williams syndrome who has metopic and sagittal craniosynostosis. The child successfully underwent calvarial remodelling procedures, with the clinical outcome demonstrating dramatically improved global development after surgery.

Early bone reformation after cranial vault remodelling for sagittal craniosynostosis: A retrospective 3D analysis.

This study aims to measure postoperative bone reformation percentage, rates and patterns after cranial vault remodelling (CVR) in isolated non-syndromic sagittal craniosynostosis. Volumetric bone measurements were performed starting from the DICOM files of previously available postoperative CT scans. The 3D images were then resampled into the master box, and 'Skull 3D models' were derived. The percentage of bone reformation was investigated using automated 3D analysis software. The intra-rater reliability analysis revealed high reliability (Intraclass correlation coefficient = 0.99, p < 0.001). The median bone reformation volume and rate were 11.2 ml and 1.98 ml/week, respectively. The median percentage of bone reformation was 56.7% when the median postoperative CT timing was 6.1 weeks. As a statistic model, the linear plateau showed the highest Pseudo R2 in both volume and percentage of bone reformation predicting patterns. By using the calculated model at 9 weeks postoperatively, the re-osteogenesis reaches 80% of the total cranial defect. After CVR, the early bone reformation pattern was demonstrated as a linear plateau model rather than logarithmic. This study gives a better understanding of the pattern and quantity of re-osteogenesis at cranial defects after CVR. The statistic model can facilitate healthcare practitioners to predict bone reformation and improve postoperative care protocol in sagittal craniosynostosis management.

Prognostic Factors and Outcomes of Cutaneous Malignant Melanoma: A 174-Patient Cohort Study in a Tertiary Hospital in Thailand.

BACKGROUND: Malignant melanoma is a common skin cancer among Asians. However, some features, such as tumor type and initial stages, are not comparable with those found in Western countries. We audited a large cohort of patients at a single tertiary referral hospital in Thailand to identify factors affecting the prognosis. METHODS: A retrospective study was conducted of patients diagnosed with cutaneous malignant melanoma between 2005 and 2019. Details of demographic data, clinical characteristics, pathological reports, treatments, and outcomes were collected. Statistical analyses of overall survival and factors affecting survival were investigated. RESULTS: The study enrolled 174 patients (79 men and 95 women) with pathologically confirmed cutaneous malignant melanoma. Their mean age was 63 years. The most common clinical presentation was a pigmented lesion (40.8%), with the plantar area being the most common site (25.9%). The mean duration of onset and hospitalization was 17.5 months. The 3 most common types of melanoma were acral lentiginous (50.7%), nodular (28.9%), and superficial spreading (9.9%). Eighty-eight cases (50.6%) had concomitant ulceration. Pathological stage III was the most common (42.1%). The 5-year overall survival was 43%, and the median survival time was 3.91 years. Multivariate analysis showed that clinically palpable lymph nodes, distant metastasis, a Breslow thickness ≥ 2 mm, and evidence of lymphovascular invasion were poor prognostic factors for overall survival. CONCLUSIONS: In our study, most patients with cutaneous melanoma presented with a higher pathological stage. Independent factors affecting survival are palpable lymph nodes, distant metastases, Breslow thickness, and the presence of lymphovascular invasion. The overall 5-year survival rate was 43%.

Proboscis Lateralis With Basal Encephalocele: A Report of Clinical Management and Reconstructive Approach.

Proboscis lateralis is a rare craniofacial anomaly in which a rudimentary nasal appendage arises at the medial canthal area. The severity depends on organ involvement, including eyes, nose, cleft lip/palate, and/or concomitant intracranial anomalies. Here, we present a child with proboscis lateralis and associated trans-ethmoidal encephalocele. We suggest doing the preoperative CT and/or MRI to rule out associated intracranial anomalies and reliably preoperative planning tools. Moreover, we proposed an alternative nasal reconstructive technique using a composite graft from the proboscis mass at the same time as encephalocele repair with promising results.

Multisuture craniosynostosis: a case report of unusual presentation of chromosome 14q32 deletion.

Multisuture craniosynostosis is associated with a number of syndromes and underlying gene mutations. It is rarely caused by chromosome disorders. For the management, multisuture craniosynostosis raises concerns about abnormal head shape and risks of increased intracranial pressure in affected patients. Calvarial reconstruction to reshape the skull shape and expand the intracranial volume plays an essential role in correcting particular problems. Here, we report a 2-month-old female infant presenting with low birth weight, abnormal head shape, dysmorphic facies and pinnae, hypotonia, and feeding difficulty. Three-dimensional computed tomographic scans revealed left unicoronal and sagittal synostoses. Chromosome microarray analysis revealed de novo chromosome 14q32.12-q32.31 deletion. Among the deleted genes, YY1 and BCL11B are the most likely candidate genes causing craniosynostosis. Some clinical features of the patient are similar to Temple syndrome indicating that the deleted region is paternal in origin. In summary, this is a rare case of chromosome 14q32 deletion with multisuture craniosynostosis. We also report the multidisciplinary management and clinical outcomes after early cranial vault remodelling procedures.

Fibrodysplasia Ossificans Progressiva: A Case Report with Pseudo-Ankylosis of the Temporomandibular Joint.

Fibrodysplasia ossificans progressiva (FOP) is a rare condition characterized by progressive heterotopic ossifications and congenital hallux valgus deformities. The common underlying genetic cause is an ACVR1 mutation, resulting in altered bone morphogenetic protein (BMP) regulation. Trauma and/or minor procedures aggravate the abnormal bony formation in soft tissues. This report presents a 3-year-old child with this condition who presented pseudo-ankylosis of the temporomandibular joint (TMJ) after minor craniofacial trauma. Abnormal ossification in the medial pterygoid muscle was identified as the causative abnormality for the presentation with trismus.

Thai CLEFT-Q: Phase 1-A Pilot Study of Translation and Cultural Adaptation in Thailand.

To translate and culturally adapt the original English version of the CLEFT-Q into Thai (Thai CLEFT-Q).A pilot study.A single tertiary referral hospital in Thailand.Patients with cleft lip or palate (CL/P) aged between 8 and 29 years.The CLEFT-Q was translated and culturally adapted from English into Thai using the good practice guidelines developed by the International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Two forward translations and reconciliation, 1 back translation, and 2 sets of cognitive debriefing interviews with patients were performed to develop the Thai CLEFT-Q.The English version of the CLEFT-Q consists of 13 scales (119 items) assessing appearance, health-related quality of life (HRQOL), and facial function. The forward translations revealed 33.6% inconsistencies. They were related to narrow meaning (2.5%) and improper (16.8%) or incorrect (14.3%) wording or phrasing of the items. After reconciliation, the back translation showed 5 inconsistencies (4.2%) with the original version. However, no changes were needed because the reconciliation version was consistent with the source version. Sixteen participants underwent cognitive debriefing interviews, which revealed a comprehensive interpretation of the Thai CLEFT-Q. Interim reports revealed fair facial appearance scores, albeit with HRQOL and facial function outcomes.Translation and cultural adaptation of the Thai CLEFT-Q provided evidence of its transferability and equivalence with the original English version. Feasible comprehension of the Thai version was also achieved.

Secondary Surgery in Metopic Craniosynostosis: Outcomes in a Tertiary Care Craniofacial Center in Australia.

ABSTRACT: Metopic craniosynostosis is a condition in which the metopic suture is prematurely fused. Trigonocephaly and hypotelorism are the major abnormal findings associated with synostosis. Fronto-orbital advancement with cranial remodelling procedure is the widely practised method for correction of the deformities. Previously, a few studies have shown a low incidence of secondary raised intracranial pressure after the primary surgery. Thus, we reviewed our database to investigate the outcomes of metopic craniosynostosis treatment between 1999 and 2020 in Cleft and Craniofacial South Australia. One hundred twelve patients (77 males and 35 females) with metopic synostosis were operated. The mean age of primary surgery was 11.1 months (range 2.8-131.7 months). Ten patients (9%) who had secondary raised intracranial pressure underwent secondary surgery. Among those, the mean age of primary and secondary surgery were 5.4 and 57.1 months, respectively. Syndromic patients were significantly revealed to have a higher incidence of secondary raised intracranial pressure. There were three patients (2.7%) who had other secondary procedures (hardware removal and aesthetic contouring procedures). This cohort identified a higher incidence of secondary raised intracranial pressure requiring secondary surgery than previous studies. Syndromic patients were significantly related to secondary raised intracranial pressure. The patients who had raised intracranial pressure tended to have primary correction at younger age. Long-term multidisciplinary follow-up is mandatory. The demand for secondary surgery for metalwork complications or cosmetic contouring is uncommon.

Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care.

Pfeiffer syndrome is one of the autosomal dominant craniofacial syndromes. Classical clinical manifestations are coronal suture synostosis causing brachycephaly, midface retrusion, airway compromise, broad thumbs, and toes. Pfeiffer syndrome type I (classic type) is associated with FGFR1 mutation. However, wide range of clinical manifestations, with and without craniosynostosis, have been reported. Here, we present a family of Pfeiffer syndrome across 3 generations with identical FGFR1: c.755C>G (p.Pro252Arg) mutation. Where the members of the youngest generation have no cranial involvement. Lastly, we propose a guideline management for familial Pfeiffer syndrome management.

Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report.

Craniosynostosis is a condition of premature fusion of the cranial sutures. Multi-suture craniosynostosis has been found to be associated with a number of syndromes and underlying gene mutations. Tumour necrosis factor receptor-associated factors (TRAFs) are a family of adaptor proteins interacting with cell surface receptors or other signalling molecules. TRAF7 is one of the factors involved in multiple biologic processes, including ubiquitination, myogenesis and toll-like receptor signalling. Here, we report a child who presented with multi-suture craniosynostosis and had the uncommon c.1570C>T (p.Arg524Trp) variant of TRAF7.

Incidence of persistent metopic suture in Australia: findings from 1034 three-dimensional computed tomography scans.

PURPOSE: To investigate the incidence of persistent, open metopic sutures in contemporary Australians aged 24 months and older. METHODS: Metopic suture evaluation was conducted on retrospective cranial/cervical computed tomography scans of patients aged 24 to 252 months who presented to the Women's and Children's Hospital in Adelaide, Australia, between 2010 and 2020. Suture ossification was graded according to Lottering scoring system based on 4 stages, on three-dimensional volume-rendered reconstructions (stage 1: fibrous tissue interface, stage 2: commenced fusion, stage 3: complete fusion and stage 4: obliterated suture). The complete persistent sutures were classified as stage 1. Partially closed sutures were classified into stages 2 and 3, while completely closed sutures were defined as stage 4. RESULTS: One thousand thirty-four patients (61.2% male and 38.8% female) were included, with a mean age at scan of 66 months. More than half of patients were subject to scanning due to closed-head injuries. The incidence of persistent (completely open) metopic suture was 4.8% (2.3% in males and 2.5% in females). In comparison, a partially closed metopic suture was found in 6.3% of the study cohort, with the remaining sutures located along the metopic suture line, at the glabella, mid-part of the suture, bregma and glabella-bregma areas. CONCLUSION: The prevalence of persistent metopic sutures in our study of the Australian population is 4.8%, and it is equally distributed between the genders. The pattern of suture closure can commence from any location along the suture line, which is in contrast to the existing literature.

Secondary Raised Intracranial Pressure After Cranial Vault Remodeling for Isolated Sagittal Craniosynostosis.

ABSTRACT: The management of sagittal craniosynostosis has evolved over the decades as teams seek to refine their surgical approaches to idealize head shape with the least possible morbidity. Here, the authors identify the incidence of raised intracranial pressure (ICP) and its risk factors, requiring secondary surgical intervention after cranial vault remodeling (CVR) procedure at a single tertiary referral craniofacial unit. A retrospective case-control study was performed on the patients with isolated non-syndromic sagittal craniosynostosis. All patients who underwent CVR in our unit and had a minimum of 1.5 years follow-up were included. One hundred and eighty-four patients (134 male and 50 female) who underwent primary CVR surgery for isolated sagittal craniosynostosis were included. Thirteen patients (7.07%) had clinical evidence of late raised ICP resulting in repeat CVR procedures. Higher incidence of raised ICP in patients who had primary surgery before 6 months than after or at 6 months of age (P = 0.001). There were 23.5%, 5.6%, 3.2%, and 1.9% of secondary raised ICP patients who underwent the primary surgery between 1999-2004, 2005-2010, 2011-2015 and 2016-2018, respectively (P = 0.024). The risk of secondary raised ICP was higher in patients with isolated sagittal craniosynostosis whose primary surgery occurred before the age of 6 months (two times more likely). More extensive CVR can be performed safely in sagittal synostosis with promising outcomes. The late presentation with raised ICP reinforces the importance of long-term multidisciplinary protocol-based follow-up.

Posterior Cranial Vault Manifestations in Nonsyndromic Sagittal Craniosynostosis.

ABSTRACT: Sagittal synostosis is the most common type of craniosynostosis. Sagittal suture fusion causes restriction of biparietal cranial vault growth, with expansion of the growing brain causing frontal bossing, an occipital bullet, and an elongated head shape. Due to the absence of studies focusing on the posterior cranial vault pattern in isolated sagittal craniosynostosis, we organized this study to characterize the posterior part of the cranial vault and its association with sagittal craniosynostosis. A retrospective study was conducted of isolated sagittal craniosynostosis patients who had undergone total cranial vault remodeling at the Cleft and Craniofacial South Australia (formerly known as the Australian Craniofacial Unit) between January 2018 and February 2020. Preoperative three-dimensional computed tomography (3D-CT) images were reviewed. The following parameters were evaluated: the cephalic index, lambdoid suture shape, lambdoid suture line pattern, presence of wormian bones along the lambdoid sutures and occipital fontanelle, presence of the mendosal suture, and angle at the tip of the join between the 2 lambdoid sutures. Thirty-nine 3D-CT scans of 32 males and 7 females were evaluated. The mean age when the patients underwent the 3D-CT imaging was 6.72 ±â€Š7.9 months. A high prevalence of mendosal sutures (74.4%) was significantly found in sagittal craniosynostosis. Adult-like types of lambdoid suture interdigitating patterns were also significantly associated with young patients with sagittal craniosynostosis. No associations between the remaining parameters and particular synostoses were revealed.

Frontoethmoidal Encephalomeningocele Correction by Medial Orbital Composite-Unit Translocation Technique: 13 Years of Siriraj Hospital Experience.

ABSTRACT: Frontoethmoidal encephalomeningocele (FEEM) is a congenital anomaly involving herniation of the glial tissues and the meninges. Our unit implemented single-stage repair in 1996, and this was followed by the introduction of the medial orbital composite-unit translocation (MOCUT) technique for encephalocele repair in 2001. This report describes the long-term outcomes of patients who underwent the MOCUT technique. Data were collected on 32 patients operated on between 2005 and 2018. A full analysis was subsequently made of the data from 4 selected patients who had been monitored for at least 5 years, and their age-related anterior interorbital distances were compared. Two of the patients, who had simple forms of FEEM, demonstrated improvements in their intercanthal and anterior interorbital distances, whereas telecanthus was experienced by the 2 other cases, both of whom had complex FEEM types. We recommend using the MOCUT technique for simple types of FEEM (especially Type IA) and patients whose medial canthal ligaments are still anatomically attached to the medial orbits.

Bilateral squamosal synostosis: unusual presentation of chromosome 1p12-1p13.3 deletion. Illustrative case.

BACKGROUND: Squamosal sutures are minor sutures of the human skull. Early isolated fusion of the sutures (squamosal synostosis) is rarely found. OBSERVATIONS: The authors report a case of a girl who presented with an abnormal head shape and bilateral squamosal synostosis. Genetic testing revealed a chromosome 1p12-1p13.3 deletion. She has been managed with conservative treatment of the synostosis. She has global developmental delay and multiple anomalies due to the chromosome abnormality. LESSONS: Isolated squamosal suture synostosis could be an uncommon feature of chromosome 1p12-1p13.3 deletion.