Encephalocraniocutaneous lipomatosis and mixed odontogenic tumors

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome first described by Haberland and Perou in 1970.¹ Their patient had severe retardation, epilepsy, and unilateral eye and skin lesions associated with ipsilateral cerebral malformations. Autopsy findings included lipomatous tumors in multiple organ systems. Ocular lesions were described as choristomas and the skin lesions as lipomas and connective tissue nevi.Fishman et al.² described two additional cases in 1978. Unlike Haberland and Perou's patient, these patients had only mild retardation. Both male, the patients exhibited unilateral frontoparietal alopecia, scleral choristomas, and epidermoid skin tags, as well as cutaneous lipomas. Both had ipsilateral porencephalic cysts and contralateral seizure activity. Sanchez et al.,³ in 1981, reported a case of ECCL in a female and broadened the criteria to include bilateral skin lesions of the face and scalp.A case of ECCL is presented in association with an ipsilateral mandibular ameloblastic fibro-odontoma and a maxillary composite odontoma.     

New dental findings in the median cleft facial syndrome

BACKGROUND: The main features of median cleft facial syndrome are hypertelorism, cranium bifidum occultum, widow's peak, and midine clefting of the nose, upper lip and palate. Since this pathology was first described in 1967, many cases have been reported in the literature, but none of these reports has addressed oral anomalies in depth. CASE DESCRIPTION: The authors present the case of a female patient aged 4 years and 7 months who was diagnosed with median cleft facial syndrome. In this case, the patient had an abnormal number of teeth, owing to fusion or agenesis of teeth, supernumerary teeth and ectopic eruption of some teeth. These oral anomalies had not been described before in the literature as being associated with this syndrome. CLINICAL IMPLICATIONS: Median cleft facial syndrome is a rare pathology; however, dentists should know its possible alterations at an oral level, because children with this syndrome need dental treatment to achieve good esthetics and correct occlusion.     

Paramedian mandibular cleft: revisiting the Tessier classification

Mandibular clefts are extremely rare, with less than 100 cases reported in the literature. Almost universally, these isolated cases of lower facial clefting have been noted to occur through the midline of the lip and/or mandible. The defect can vary, ranging from mild notching of the lower lip or mandibular alveolus to complete mandibular cleavage. The authors present a rare case of a paramedian mandibular cleft in a patient who also had Goldenhar syndrome and Tessier number 2/12 cleft. With its presentation, the authors revisit the Tessier classification of craniofacial clefts and the embryogenesis of lower facial clefts.     

SAPHO syndrome with ankylosis of the temporomandibular joint

SAPHO syndrome is a rare combination of different symptoms with unknown aetiology. A complete ankylosis of the temporomandibular joint (TMJ) in a patient with SAPHO syndrome has not been described previously. The goal of this case report is to present the disease, give an overview about the frequency of mandibular involvement and describe different therapeutic strategies. The complication of an ankylosis of the TMJ is noted and the literature is reviewed. The authors report a 42-year-old patient with SAPHO syndrome and recurrent swelling of the right mandible and the soft tissue. The persisting involvement of the mandible resulted in a complete osseous ankylosis of the right TMJ and required resection with alloplastic replacement of the right condyle. SAPHO syndrome should be suspected in some cases of ‘therapy resistant osteomyelitis’ of the mandible. Smaller joints, such as the TMJ may also be affected. Treatment of SAPHO syndrome should include antibiotics and NSAIDs; corticosteroids may be helpful. Surgery is the ultimate treatment.     

Syngnathia and Van der Woude syndrome: a case report and literature review.

OBJECTIVE: Syngnathia is a rare anomaly involving soft tissue or bony adhesions between the maxilla and mandible. We review the literature and present a case of syngnathia associated with Van der Woude syndrome. Syngnathia can have very different etiologies, but this has rarely been reported in Van der Woude syndrome. Treatment of this condition is rarely discussed in the literature because of a paucity of case reports. RESULTS: Oral adhesion (syngnathia) in our patient was caused by a mandibular to maxillary fibrous band. Surgical treatment was successful. Clinical implications and review of literature for the treatment of this rare association of syngnathia and Van der Woude syndrome are discussed.     

Central cystadenocarcinoma of the mandible

Papillary cystadenocarcinoma (PCAC) of the salivary gland is a rare malignant tumour and occurs in major and minor salivary glands. PCAC of the mandible is exceptionally rare; only 2 cases have been reported. In this study, the authors report a case of PCAC within the mandible. The patient presented with a painful right mandibular mass that had gradually increased in size. The lesion appeared radiographically as a well-demarcated multilocular radiolucent area, similar to an odontogenic cystic lesion. The authors present a case of PCAC with reference to the relevant literature.     

Malignant fibrous histiocytoma (undifferentiated high-grade pleomorphic sarcoma) occurring in tuberous sclerosis: a case report

Tuberous sclerosis is an autosomal dominant genetic disorder that is characterized by the early development of hamartomas, malformations, and congenital tumors of the nervous system, skin, kidneys, lungs, and heart. Variable clinical expressivity has been reported and more than one gene can be responsible for the disorder. Benign neoplasias accompanying the syndrome are common but malignant neoplasias are rare, being generally mesenchymal and possibly affecting the jaws. We report here a clinical case of a malignant fibrous histiocytoma (undifferentiated high-grade pleomorphic sarcoma) of the mandible in a patient with tuberous sclerosis.     

Larsen syndrome: a review of the literature and case report

Larsen syndrome is a rare genetic disorder characterized by multiple dislocations of the large joints and characteristic craniofacial abnormalities. It exists in both a severe autosomal recessive form and a mild autosomal dominant variety. To date, only three authors have reported oral findings for this syndrome. This paper describes an 8‐year‐old Chinese boy with Larsen syndrome who had advanced periodontitis. The need for periodontal therapy and regular monitoring of such patients has been highlighted.     

Congenital infiltrating lipomatosis of the face

Congenital infiltrating lipomatosis of the face is a rare clinical entity. Since it was first described by Slavin and colleagues in 1989, only a few cases have been reported in the literature. A 6-year-old girl with congenital infiltrating lipomatosis of the right side of the face is presented, and treatment modalities are discussed.     

Dental findings in an adult with Lowe's syndrome

This paper describes the dental findings and care of a Chinese adult affected with oculo-cerebrorenal syndrome—Lowe's syndrome—a rare, X-linked recessive disorder, whose clinical manifestations include cataracts, mental retardation, and renal tubular dysfunction. Approximately 150 cases have been reported in the last 45 years. Little has been reported in the dental literature. This patient is described with particular reference to the dental findings, which include gross periodontal disease with severe bone loss, impaction of teeth In the permanent dentition, taurodontism, and underdevelopment of the maxilla and mandible. Dental treatment was aimed at arresting the periodontal disease and preseiving the remaining dentition.     

Pyknodysostosis: an unusual presentation in a denture wearer. A case report.

Pyknodysostosis is a rare craniofacial syndrome characterized by cranial anomalies, dwarfism, osteopetrosis, hypoplasia of the angle of the mandible, abbreviated terminal phalanges, and dysodontiasis. The syndrome was first differentiated by Maroteaux and Lamy in 1962. Fewer than 130 cases have been described since that time. A 30-year-old Filipino man had most of the characteristics of the syndrome. Of particular interest is that he wore complete dentures and had a chief complaint of pain arising from partially erupting teeth under the denture. To our knowledge this is the first reported case from the Philippines.     

Papillon–Lefèvre syndrome – The prosthodontic management

Papillon–Lefèvre syndrome is a rare autosomal recessive genetic disorder. This is characterized by palmar-plantar hyperkeratosis, with rapidly progressive periodontitis and premature loss of both deciduous and permanent teeth. This article presents the prosthodontic rehabilitation of a patient with Papillon-Lefèvre syndrome with implant-supported over denture using two dental implants in mandible.     

Frontometaphyseal dysplasia: Symptoms and possible mode of inheritance

Frontometaphyseal dysplasia is a rare syndrome of which only 20 cases have been described thus far. In this paper we report a 46-year-old man who showed a medium degree of manifestation of the disorder. The variable expressivity in both sexes, as derived from the careful study of reported symptoms in all known cases, was discussed. On the basis of the published pedigrees and additional information from our case, the possible mode of inheritance was debated.     

Regional macrodontia and regional bony enlargement associated with congenital infiltrating lipomatosis of the face presenting as unilateral facial hyperplasia. Brief review and case report

Congenital infiltrating lipomatosis of the face (CIL-F) is a rare lesion. Presented here is a review of the literature concerning this condition, with the report of a case with clinical signs indistinguishable from those of unilateral facial hyperplasia. Previously unreported clinical and radiographic features of regional bony hypertrophy and macrodontia associated with this case of CIL-F are described and the proposition raised that previously reported cases of unilateral facial hyperplasia may have been due to CIL-F. It is suggested that the clinical findings in this case of facial asymmetry associated with CIL-F, regional macrodontia and regional bony enlargement may constitute a previously undescribed syndrome.     

Craniofacial and dental manifestations of Proteus syndrome: a case report.

The Proteus syndrome is a rare congenital hamartomatous condition that is characterized by a wide range of malformations, sometimes involving the face. Common manifestations include partial gigantism, congenital lipomas, and plantar hyperplasia. In this report we describe the craniofacial clinicopathological development in a girl with Proteus syndrome from age 6 to 20 years. The patient had pronounced hemifacial hypertrophy, exostoses in the left parietal region, and enlargement of the inferior alveolar nerve and mandibular canal in the affected region. The dental development of the affected left mandible and maxilla was characterized by extremely premature development and eruption of the primary and permanent teeth and by pronounced idiopathic root resorptions. The multidisciplinary management of the patient and the treatment outcome is reported. A review of the Proteus patients in the literature who exhibited manifestation in the craniofacial region is presented.     

Mandibular metastasis in hepatocellular carcinoma.

Hepatocellular carcinoma (HCC) presenting initially as a bony metastasis is rare. Involvement of maxillofacial bones is even more rare and only 20 cases have been reported. A case of a 65-year-old male patient presenting with metastasis to the mandible from a primary HCC is described.     

Popliteal pterygium syndrome

Popliteal pterygium syndrome (PPS) is a rare congenital disorder consisting of limb, genital, and orofacial malformations. Approximately fifty cases have been described, and the extremely variable nature of this syndrome has been shown. Two new cases of PPS are reported in this article. Surgical management and airway control are also described.     

颅骨锁骨发育不全综合征：1例家系报告及文献复习

颅骨锁骨发育不全综合征是一种先天性全身骨骼发育不全性疾病,临床罕见,以锁骨发育不良、囟门闭合延迟、方颅、乳牙脱落延迟、恒牙迟萌或阻生、多生牙以及颌骨形态异常为主要临床特征。本文报告1例颅骨锁骨发育不全综合征家系,并结合相关文献,对该病的发病率、发病机制、临床表现、诊断及治疗进行讨论。