Segmental Ipsilateral Odontognathic Dysplasia (Mandibular Involvement in Segmental Odontomaxillary Dysplasia?) and Identification of PIK3CA Somatic Variant in Lesional Mandibular Gingival Tissue.

Segmental odontomaxillary dysplasia (SOD) is a developmental condition of the middle and posterior maxilla featuring dysplastic bone overgrowth, dental abnormalities and, occasionally, various homolateral cutaneous manifestations. Herein, we describe an individual with maxillary abnormality akin to SOD and associated ipsilateral segmental odontomandibular dysplasia. Also, the result of the evaluation of lesional mandibular gingival tissue for overgrowth-related gene variants is reported. An 8-year-old girl presented clinically with congenital maxillary and mandibular alveolar soft tissue enlargement in the area of the premolars. A panoramic radiograph revealed abnormal trabeculation essentially similar to SOD in the maxilla and mandible with congenitally missing maxillary and mandibular first and second premolars and mandibular canines. Diagnostic mandibular bone biopsy was performed and lesional mandibular gingival hyperplastic tissue was obtained for variant analysis of somatic overgrowth genes PIK3CA, AKT1, AKT3, GNAQ, GNA11, MTOR, PIK3R2. Cone beam computerized tomography (CBCT) disclosed osseous abnormalities on the left side of the maxilla and mandible and very mild osseous expansion in the mandible. Histologically, abnormal bone exhibiting prominent reversal lines was present and associated with fibrocollagenous tissue. Genomic DNA analysis disclosed PIK3CAc.1571G>A; pArg524Lys which was seen at a low mosaic level in the blood, indicating a post-zygotic change. Although this case may be a unique disorder, by sharing features with SOD, one can suggest the possibility of mandibular involvement in SOD. The presence of a PIK3CA variant may support the hypothesis that these segmental disorders could be part of the PIK3CA-related overgrowth spectrum.

Thyroglossal Duct Cyst: Abbreviated Review and Case Report.

The thyroglossal duct cyst (TGDC) is the most common developmental cyst of the neck. The cyst typically occurs along the midline of the neck on the ventral surface. Malignant transformation is rare and can be diagnosed only after histologic examination of a biopsy specimen. This article presents a brief, focused narrative review, which includes a discussion of successful treatment of a TGDC, and a single case report that describes a Sistrunk-like procedure.

Phosphatase and Tensin Homolog Hamartoma Tumor Syndrome: A Case Report.

INTRODUCTION: Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) may manifest as one of four distinctive disorders: 1) Cowden syndrome; 2) Bannayan-Riley-Ruvalcaba syndrome; 3) Proteus syndrome; or 4) Proteus-like syndrome. Clinical features of PHTS commonly include multiple benign hamartomas of the skin and mucous membranes as well as macrocephaly. Despite the benign nature of the characteristic lesions, patients diagnosed with PHTS are at increased risk of certain cancers, most notably carcinomas of the breast, thyroid, and endometrium. CASE PRESENTATION: A 28-year-old African-American female presented with generalized gingival overgrowth that involved the palate, gingival margins, and retromolar areas. The dorsal tongue also exhibited a generalized tissue hyperplasia. Based on clinical presentation, biopsies were performed for histology and genetic testing. Although histology revealed non-specific fibroepithelial hyperplasia, genetic testing revealed a novel heterozygous mutation of the PTEN gene (c.158_164dupTAGTAAG), believed to result in premature termination of the protein. The patient did not exhibit macrocephaly or extraoral skin lesions and did not have any obvious cognitive deficit. CONCLUSIONS: This presentation of a Cowden syndrome-like scenario demonstrates that intraoral lesions may be the first symptom leading to a diagnosis of PHTS. Furthermore, the case shows that communication with and referral from the general dentist to specialists (e.g., oral pathologist, oral surgeon, or periodontist) can facilitate the establishment of a definitive diagnosis and allow for preventive screening and genetic counseling to aid in the treatment of secondary diseases, most notably associated cancers.

Surgical and Laser Treatment of Hemangiomas of the Lips.

INTRODUCTION: Single or multiple cavernous hemangiomas involving the lips can be disfiguring and are subject to traumatic hemorrhage and ulceration. Furthermore, the cavernous hemangiomas may increase in size over time. The lip is a unique body tissue because of the vermilion color. Thus, surgical removal of lesions involving the vermilion borders present esthetic concerns. CASE PRESENTATION: A 51-year-old male presented with a chief complaint of a "red-blue puffy" and protruding lower lip of several years duration. Clinical examination revealed four raised soft tissue lesions ranging from 0.4 to 1 cm in diameter. Similar lesions were noted on the dorsal tongue surface. All lesions blanched on palpation but were not pulsatile. The preliminary diagnosis was cavernous hemangioma. Given the range in size, distribution, and esthetic concerns, the two largest lip lesions were surgically excised and the smallest was ablated by carbon dioxide laser irradiation. A small lesion involving both lips at the commissure was not treated because of lack of esthetic and functional concerns. CONCLUSIONS: Treatment was successful in that no complications were incurred and the esthetic result was pleasing to the patient. This case demonstrates that laser ablation of a cavernous hemangioma with good hemostasis is possible and should be considered a viable treatment option.