Regional odontodysplasia with facial cellulitis: a case report and literature review.

Regional odontodysplasia (ROD) is a localized developmental anomaly involving deciduous and permanent dentition, with a significant impact on patients. The affected teeth display unique ghost-like radiological characteristics, clinically manifesting as delayed tooth eruption, abnormal tooth morphology, and recurrent swelling of gingiva. In this paper, we report a case of a 2-year-old patient with ROD whose chief complaint was facial cellulitis. We analyze the medical history, clinical examination, radiographic findings, and histologic findings, and review the pathological features, pathogenesis, multidisciplinary diagnosis, and treatment of ROD. This rare case, which offers clinical samples for its further study, can provide a deeper study of ROD.

Genetic Basis of Pigment Dispersion Syndrome and Pigmentary Glaucoma: An Update and Functional Insights.

Pigment Dispersion Syndrome (PDS) and Pigmentary Glaucoma (PG) comprise a spectrum of ocular disorders characterized by iris pigment dispersion and trabecular meshwork changes, resulting in increased intraocular pressure and potential glaucomatous optic neuropathy. This review summarizes recent progress in PDS/PG genetics including rare pathogenic protein coding alterations (PMEL) and susceptibility loci identified from genome-wide association studies (GSAP and GRM5/TYR). Areas for future research are also identified, especially the development of efficient model systems. While substantial strides have been made in understanding the genetics of PDS/PG, our review identifies key gaps and outlines the future directions necessary for further advancing this important field of ocular genetics.

Oculo-facio-cardio-dental (OFCD) syndrome: a case report.

BACKGROUND: Oculo-facio-cardio-dental (OFCD) syndrome is a rare condition that affects the eyes, face, heart, and teeth of patients. One notable dental characteristic of OFCD is radiculomegaly, or root gigantism, which highlights the role of dentists in detecting this syndrome. OFCD is an X-linked dominant syndrome that results from a variant in the BCOR gene. Our study presents the first documented case of OFCD in Vietnam and reports a novel BCOR gene variant observed in this case. CASE PRESENTATION: A 19-year-old Vietnamese female patient with an extremely long root with an abscess was clinically examined for the expression of OFCDs. The radiograph and the variant in BCOR gene were also evaluated. We identified abnormalities in the teeth, as well as ocular, facial, and cardiac features, with radiculomegaly of the canines being a specific symptom for OFCDs. The patient's genetic analysis revealed a pathogenic heterozygous deletion at intron 11 of the BCOR gene, representing a novel variant. CONCLUSION: Oculo-facio-cardio-dental syndrome (OFCD) is an extremely rare condition characterized by abnormalities in the eyes, face, heart, and teeth, often caused by variants in the BCOR gene. Radiculomegaly, or enlarged dental roots, is a key diagnostic feature of OFCD, and early detection is crucial for preventing future dental complications.

Auricular leishmaniasis mimicking squamous cell carcinoma of the pinna.

Cutaneous leishmaniasis can occur on any exposed area of the body; however, the pinna is an exceptionally rare site for the disease. Caused by the parasite Leishmania, cutaneous leishmaniasis has a wide range of presentations and thus is very easy to misdiagnose or mistake for a neoplastic lesion. Here, we report the case of a middle-aged male patient presenting with a painful, ulcerated lesion on the left auricle initially suspected to be a malignancy with histopathology eventually revealing a diagnosis of auricular leishmaniasis. The patient received appropriate therapy and was found to be disease free at follow-up. These isolated lesions of the pinna often resemble neoplastic lesions and thus may escape diagnosis for months at a time, increasing patient stress as well as expenditure. In addition, prompt recognition may also help mitigate recurrence of the disease, making it worthwhile to include cutaneous leishmaniasis as part of the differential, especially in endemic areas.

An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report.

BACKGROUND: Coffin-Lowry syndrome (CLS) is a rare X-linked condition with intellectual disability, growth retardation, characteristic facies and skeletal anomalies. To date, hypertriglyceridemia has not been reported in literature to be associated with CLS. CASE PRESENTATION: Herein, we report a case of very severe hypertriglyceridemia 32 mmol/L (2834 mg/dL) detected incidentally at three months old in an otherwise well boy born late preterm with intrauterine growth restriction, when he presented with lipaemic plasma. He was later diagnosed with CLS. No pathogenic mutations were found for hypertriglyceridemia, and no secondary causes could explain his very severe hypertriglyceridemia. CONCLUSIONS: The very severe hypertriglyceridemia in this case may appear to be a serious presentation of an unrecognised clinical feature of CLS, further expanding its phenotype.

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.

Heterozygous ARID1B variants result in Coffin-Siris syndrome. Features may include hypoplastic nails, slow growth, characteristic facial features, hypotonia, hypertrichosis, and sparse scalp hair. Most reported cases are due to ARID1B loss of function variants. We report a boy with developmental delay, feeding difficulties, aspiration, recurrent respiratory infections, slow growth, and hypotonia without a clinical diagnosis, where a previously unreported ARID1B missense variant was classified as a variant of uncertain significance. The pathogenicity of this variant was refined through combined methodologies including genome-wide methylation signature analysis (EpiSign), Machine Learning (ML) facial phenotyping, and LIRICAL. Trio exome sequencing and EpiSign were performed. ML facial phenotyping compared facial images using FaceMatch and GestaltMatcher to syndrome-specific libraries to prioritize the trio exome bioinformatic pipeline gene list output. Phenotype-driven variant prioritization was performed with LIRICAL. A de novo heterozygous missense variant, ARID1B p.(Tyr1268His), was reported as a variant of uncertain significance. The ACMG classification was refined to likely pathogenic by a supportive methylation signature, ML facial phenotyping, and prioritization through LIRICAL. The ARID1B genotype-phenotype has been expanded through an extended analysis of missense variation through genome-wide methylation signatures, ML facial phenotyping, and likelihood-ratio gene prioritization.

Common soft tissue and hard tissue lesions in children and young people (Part 2).

Children and young people can present with a wide variety of symptomatic orofacial pathologies, which can often cause concern. As one presentation may masquerade in multiple pathologies, we start this chapter with a reminder of the surgical sieve used to form a differential diagnosis. An accurate history and examination are essential following which, multiple special investigations may be required. The role of the primary care clinician is recognising soft and hard tissue pathology, considering a differential diagnosis, arranging special investigations, and either initiating care for more straightforward conditions or referring for specialist input. This chapter covers common soft and hard tissue pathology, but is not an exhaustive list.This chapter aims to provide the reader with a practical guide to aid the diagnosis of orofacial pathology in the paediatric age group.

Craniofacial Epidermoid and Dermoid Cysts.

BACKGROUND: Epidermoid and dermoid cysts are benign developmental anomalies that can form anywhere in the body. Despite the rarity of incidence in the head and neck, they can arise at a variety of craniofacial locations. The purpose of this study was to analyze the clinical features of epidermoid and dermoid cysts arising in the craniofacial region with a literature review. METHODS: A retrospective study was designed, and clinical features and surgical considerations were investigated from a literature review. Cases of epidermoid cysts in the scalp, temporal area, glabellar area, mouth floor, and buccal mucosa were described. RESULTS: Dermoid cysts in more lateral regions of the scalp are rarely associated with intracranial extension. Because temporal dermoid cysts have a high rate of intracranial extension, radiological evaluation of the lesions in the temporal area is imperative. Epidermoid cysts in the glabellar area are usually superficial. Consideration of the surgical approach for an epidermoid cyst of the mouth floor is important. Because epidermoid cysts in the buccal mucosa are extremely rare, differential diagnosis was emphasized. Epidermoid cysts in the scalp, in the temporal intradiploic area, on the glabellar area in the periorbital region, in the mouth floor, and in the buccal mucosa were surgically excised considering the depth and location. Ten cases of epidermoid cysts in the buccal mucosa were retrieved from the literature review. CONCLUSIONS: Consideration of the anatomic locations of epidermoid and dermoid cysts in the craniofacial region might help facilitate accurate diagnosis and treatment.

Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations.

BACKGROUND: Facial infiltrating lipomatosis (FIL) is a rare congenital disorder characterized by unilateral facial swelling, for which surgery is the prevailing therapeutic option. Several studies have shown that the development of FIL is closely associated with PIK3CA mutations. This study aimed to further identify rare clinical features and underlying molecular variants in patients with FIL. RESULTS: Eighteen patients were included in this study, and all patients presented with infiltrating adipose tissues confirmed by magnetic resonance imaging. Macrodactyly, polydactyly, hemimegalencephaly and hemihyperplasia were also observed in patients with FIL. In total, eight different PIK3CA mutations were detected in tissues obtained from sixteen patients, including the missense mutations p.His1047Arg (n = 4), p.Cys420Arg (n = 2), p.Glu453Lys (n = 2), p.Glu542Lys (n = 2), p.Glu418Lys (n = 1), p.Glu545Lys (n = 1), and p.His1047Tyr (n = 1) and the deletion mutation p.Glu110del (n = 3). Furthermore, the GNAQ mutation p.Arg183Gln was detected in the epidermal nevus tissue of one patient. Imaging revealed that several patients carrying hotspot mutations had more severe adipose infiltration and skeletal deformities. CONCLUSIONS: The abundant clinical presentations and genetic profiles of FIL make it difficult to treat. PIK3CA mutations drive the pathogenesis of FIL, and PIK3CA hotspot mutations may lead to more extensive infiltration of lipomatosis. Understanding the molecular variant profile of FIL will facilitate the application of novel PI3K-targeted inhibitors.

Unmasking the challenges of Kabuki syndrome in adulthood: A case series.

Kabuki syndrome is a recognizable Mendelian disorder characterized by the clinical constellation of childhood hypotonia, developmental delay or intellectual impairment, and characteristic dysmorphism resulting from monoallelic pathogenic variants in KMT2D or KDM6A. In the medical literature, most reported patients are children, and data is lacking on the natural history of the condition across the lifespan, with little known about adult-specific presentations and symptoms. Here, we report the results of a retrospective chart review of eight adult patients with Kabuki syndrome, seven of whom are molecularly confirmed. We use their trajectories to highlight the diagnostic challenges unique to an adult population, expand on neurodevelopmental/psychiatric phenotypes across the lifespan, and describe adult-onset medical complications, including a potential cancer risk and unusual and striking premature/accelerated aging phenotype.