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Neonatal teeth associated with Epidermolysis Bullosa: A case report
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P21 / British Journal of Oral and Maxillofacial Surgery 52 (2014) e75–e127
P119 Neonatal teeth associated with Epidermolysis Bullosa: A case report Ushmita Johar ∗ , Dimple Jain, C.J. Edge James Cook University Hospital Introduction: Epidermolysis bullosa (EB) is the generic name given to a collective group of at least 25 hereditary and non-hereditary conditions which produce skin and mucosal blistering of differing severity and presentation. Oral blistering occurs in most forms of the disease. Dental abnormalities include anodontia, enamel hypoplasia and neonatal teeth. Case: A newborn baby girl was referred to the Department of Oral & Maxillofacial Surgery and Dermatology at James Cook University Hospital with extensive blistering on her body and around her mouth. There were multiple neonatal teeth present of which few of them were mobile and had to be extracted. There was no parental consanguinity or family history of blistering. Immunofluorescence Microscopy: Genetic studies showed heterozygous keratin 5 gene mutation confirming EBS of Dowling-Meara subtype (EBS-DM) Discussion: The Dowling-Meara subtype of Epidermolysis Bullosa Simplex (EBS) which presents with extensive blistering is often clinically mistaken for the more severe phenotype of autosomal recessive Epidermolysis Bullosa (EB). The association of natal teeth with EBS is referred to in textbooks but is not substantiated by published evidence and tothe best of our knowledge this is the first confirmed case of EBS-DM with natal teeth. http://dx.doi.org/10.1016/j.bjoms.2014.07.221 P120 A rare case of Buccal Lipoblastoma in a 6 month old infant - A case report Anand Kumar ∗ , Nicholas Hunter
Lee, Daniel
Brierley, Kieth
Sheffield Teaching Hospitals Introduction: Lipoblastoma and lipoblastomatosis are rare benign tumours of foetal-embryonal adipocytes. Lipoblastoma’s are well localised, well encapsulated and originate from superficial adipose tissue, and lipoblastomatosis are unencapsulated, diffuse-type lesion arising from deep adipose tissue. These tumours occur predominantly in young children. As a result of its rare presentation this tumour is not often included in the differential diagnosis of soft tissue lesions in infants.
We present a case of a 6 month old infant with a rapidly enlarging buccal soft tissue mass originally diagnosed as haemangioma. The excised lesion showed features suggestive of lipoblastoma. We highlight the case with diagnostic imaging, clinical photographs and microscopic imaging. Method: Case - report Clinical relevance: Lipoblastoma’s are rare benign tumours. Accurate pre-operative diagnosis can be challenging and is reliant upon ultra-sound, MRI, FNA or incision biopsy. Lipoblastoma should be included as one of the differential diagnoses among other soft tissue tumours in children. http://dx.doi.org/10.1016/j.bjoms.2014.07.222 P121 Zygomatic Keratocystic Odontogenic Tumour- A rare presentation and management dilemma Khari Lewis ∗ , Megan Faulkner, Darryl Coombes Queen Victoria Hospital Introduction: Keratocystic odontogenic tumors (KCOTs) are cystic tumours originating from the dental lamina of the maxilla and mandible, lined with keratinized epithelium. Although benign, they are locally destructive with high recurrence rates. The majority of KCOTs are found in the posterior mandible and occasionally in the maxilla. We describe a case of a KCOT in the zygoma which has been rarely reported. A fifty-three year Chinese male was referred to the Oral and Maxillofacial surgery department with persistent left cheek swelling and non-healing extraction sockets. His general dental practitioner had previously extracted of the upper left second and third molar teeth a month previously but the swelling persisted despite antibiotic therapy. The preoperative OPG was unremarkable. On clinical examination, there was a firm swelling of the left zygoma and maxilla with infra-orbital nerve paraesthesia. There was no obvious buccal expansion of the maxilla and non-healing sockets with granulation tissue was seen. A CT scan was arranged which revealed an extensive area of bony destruction of the left maxilla and zygoma, soft tissue changes within the left cheek and a hypoplastic antrum. Open biopsy was undertaken and the pathology was reported as KCOT. The patient is currently under clinical and radiological review as he remains asymptomatic. Conclusion: KCOT of the zygoma has rarely been reported in the medical literature. We present one such occurrence. There is no consensus on management but treatment is a balance between surgical morbidity and recurrence. http://dx.doi.org/10.1016/j.bjoms.2014.07.223
P21 / British Journal of Oral and Maxillofacial Surgery 52 (2014) e75–e127
P119 Neonatal teeth associated with Epidermolysis Bullosa: A case report Ushmita Johar ∗ , Dimple Jain, C.J. Edge James Cook University Hospital Introduction: Epidermolysis bullosa (EB) is the generic name given to a collective group of at least 25 hereditary and non-hereditary conditions which produce skin and mucosal blistering of differing severity and presentation. Oral blistering occurs in most forms of the disease. Dental abnormalities include anodontia, enamel hypoplasia and neonatal teeth. Case: A newborn baby girl was referred to the Department of Oral & Maxillofacial Surgery and Dermatology at James Cook University Hospital with extensive blistering on her body and around her mouth. There were multiple neonatal teeth present of which few of them were mobile and had to be extracted. There was no parental consanguinity or family history of blistering. Immunofluorescence Microscopy: Genetic studies showed heterozygous keratin 5 gene mutation confirming EBS of Dowling-Meara subtype (EBS-DM) Discussion: The Dowling-Meara subtype of Epidermolysis Bullosa Simplex (EBS) which presents with extensive blistering is often clinically mistaken for the more severe phenotype of autosomal recessive Epidermolysis Bullosa (EB). The association of natal teeth with EBS is referred to in textbooks but is not substantiated by published evidence and tothe best of our knowledge this is the first confirmed case of EBS-DM with natal teeth. http://dx.doi.org/10.1016/j.bjoms.2014.07.221 P120 A rare case of Buccal Lipoblastoma in a 6 month old infant - A case report Anand Kumar ∗ , Nicholas Hunter
Lee, Daniel
Brierley, Kieth
Sheffield Teaching Hospitals Introduction: Lipoblastoma and lipoblastomatosis are rare benign tumours of foetal-embryonal adipocytes. Lipoblastoma’s are well localised, well encapsulated and originate from superficial adipose tissue, and lipoblastomatosis are unencapsulated, diffuse-type lesion arising from deep adipose tissue. These tumours occur predominantly in young children. As a result of its rare presentation this tumour is not often included in the differential diagnosis of soft tissue lesions in infants.
We present a case of a 6 month old infant with a rapidly enlarging buccal soft tissue mass originally diagnosed as haemangioma. The excised lesion showed features suggestive of lipoblastoma. We highlight the case with diagnostic imaging, clinical photographs and microscopic imaging. Method: Case - report Clinical relevance: Lipoblastoma’s are rare benign tumours. Accurate pre-operative diagnosis can be challenging and is reliant upon ultra-sound, MRI, FNA or incision biopsy. Lipoblastoma should be included as one of the differential diagnoses among other soft tissue tumours in children. http://dx.doi.org/10.1016/j.bjoms.2014.07.222 P121 Zygomatic Keratocystic Odontogenic Tumour- A rare presentation and management dilemma Khari Lewis ∗ , Megan Faulkner, Darryl Coombes Queen Victoria Hospital Introduction: Keratocystic odontogenic tumors (KCOTs) are cystic tumours originating from the dental lamina of the maxilla and mandible, lined with keratinized epithelium. Although benign, they are locally destructive with high recurrence rates. The majority of KCOTs are found in the posterior mandible and occasionally in the maxilla. We describe a case of a KCOT in the zygoma which has been rarely reported. A fifty-three year Chinese male was referred to the Oral and Maxillofacial surgery department with persistent left cheek swelling and non-healing extraction sockets. His general dental practitioner had previously extracted of the upper left second and third molar teeth a month previously but the swelling persisted despite antibiotic therapy. The preoperative OPG was unremarkable. On clinical examination, there was a firm swelling of the left zygoma and maxilla with infra-orbital nerve paraesthesia. There was no obvious buccal expansion of the maxilla and non-healing sockets with granulation tissue was seen. A CT scan was arranged which revealed an extensive area of bony destruction of the left maxilla and zygoma, soft tissue changes within the left cheek and a hypoplastic antrum. Open biopsy was undertaken and the pathology was reported as KCOT. The patient is currently under clinical and radiological review as he remains asymptomatic. Conclusion: KCOT of the zygoma has rarely been reported in the medical literature. We present one such occurrence. There is no consensus on management but treatment is a balance between surgical morbidity and recurrence. http://dx.doi.org/10.1016/j.bjoms.2014.07.223