Hemifacial Hyperplasia.
Ontology highlight
ABSTRACT:
SUBMITTER: Salti L
PROVIDER: S-EPMC5551342 | biostudies-other | 2017 Apr-Jun
REPOSITORIES: biostudies-other
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Project description:The cellular mechanisms involved in the asymmetric facial overgrowth syndrome, hemifacial hyperplasia (HFH), are not well understood. This study was conducted to compare primary cell cultures from hyperplastic and normal HFH bone for cellular and molecular differences. Primary cultures developed from biopsies of a patient with isolated HFH showed a twofold difference in cell size and cell number between hyperplastic and normal bone. Microarray data suggested a 40% suppression of PTEN (phosphatase-tensin homolog) transcripts. Sequencing of the PTEN gene and promoter identified novel C/G missense mutation (position -1053) in the regulatory region of the PTEN promoter. Western blots of downstream pathway components showed an increase in PKBa/Akt1 phosphorylation and TOR (target of rapamcyin) signal. Sirolimus, an inhibitor of TOR, when added to overgrowth cells reversed the cell size, cell number and total protein differences between hyperplastic and normal cells. In cases of facial overgrowth, which involve PTEN/Akt/TOR dysregulation, sirolimus could be used for limiting cell overgrowth.
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Project description:Hemifacial microsomia (HM) is a craniofacial congenital defect involving the first and second branchial arch, mainly characterized by ocular, ear, maxilla-zygoma complex, mandible, and facial nerve malformation. HM follows autosomal dominant inheritance. Whole-exome sequencing of a family revealed a missense mutation in a highly conserved domain of ITPR1. ITPR1 is a calcium ion channel. By studying ITPR1's expression pattern, we found that ITPR1 participated in craniofacial development, especially the organs that corresponded to the phenotype of HM. In zebrafish, itpr1b, which is homologous to human ITPR1, is closely related to craniofacial bone formation. The knocking down of itpr1b in zebrafish could lead to a remarkable decrease in craniofacial skeleton formation. qRT-PCR suggested that knockdown of itpr1b could increase the expression of plcb4 while decreasing the mRNA level of Dlx5/6. Our findings highlighted ITPR1's role in craniofacial formation for the first time and suggested that ITPR1 mutation contributes to human HM.
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Project description:Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate. The phenotype is highly variable and most cases are sporadic. We investigated the disorder in a large pedigree with five affected individuals spanning eight meioses. Whole-exome sequencing results indicated the absence of a pathogenic coding point mutation. A genome-wide survey of segmental variations identified a 1.3 Mb duplication of chromosome 14q22.3 in all affected individuals that was absent in more than 1000 chromosomes of ethnically matched controls. The duplication was absent in seven additional sporadic HFM cases, which is consistent with the known heterogeneity of the disorder. To find the critical gene in the duplicated region, we analyzed signatures of human craniofacial disease networks, mouse expression data, and predictions of dosage sensitivity. All of these approaches implicated OTX2 as the most likely causal gene. Moreover, OTX2 is a known oncogenic driver in medulloblastoma, a condition that was diagnosed in the proband during the course of the study. Our findings suggest a role for OTX2 dosage sensitivity in human craniofacial development and raise the possibility of a shared etiology between a subtype of hemifacial microsomia and medulloblastoma.
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Project description:PurposeTo evaluate the effect of hemifacial spasm (HFS) on intraocular pressure (IOP) measurement.MethodsTwenty-four consecutive patients with HFS and 25 age- and gender-matched randomly selected eyes of healthy volunteers underwent corneal pachymetry and IOP measurements using Goldmann applanation tonometer (GAT) and noncontact tonometer (NCT). IOP measurements were performed before (during HFS) and 2 weeks after Botox injections in HFS patients and in healthy volunteers without Botox injections.ResultsThere was no statistical difference between involved eye side and uninvolved eye side of HFS patients in measured central corneal thickness. Similarly, no difference was found between involved eye side of HFS patients and controls. There were no statistically significant differences comparing IOP values before treatment and levels measured at 2 weeks of Botox injections, either with GAT (p = 0.33, 0.11) or NCT (p = 0.80, 0.43) devices in the involved eyes and uninvolved eyes of patients with HFS, respectively. There were also no significant differences in these parameters (GAT (p = 0.63) and NCT (p = 0.54)) in controls.ConclusionsContractions in facial muscles may not lead to significant increase in IOP in HFS patients. This result may help clinical decision making in the treatment of glaucoma patients with HFS. This trial is registered with NCT03390803.
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Project description:BackgroundCoexisting hemifacial spasm (HFS) and trigeminal neuralgia (TN) without any mass lesion in the posterior fossa is a rare condition. Hence, the surgical strategy of coexisting HFS and TN has rarely been discussed.Case descriptionWe present a rare case of coexisting HFS and TN without any mass lesion in posterior fossa having microvascular confliction of trigeminal nerve with superior cerebellar artery (SCA) and facial nerve with anterior inferior cerebellar artery (AICA). Single surgery was performed for both trigeminal nerve and facial nerve. Mobilization of vessels and placement of Teflon between the nerve and vessel relieved the symptoms immediately after the operation. We have reviewed the literature for cases with coexistent HFS and TN. The treatment strategy for such cases has been discussed. The surgical treatment has been demonstrated with a video.ConclusionA single surgery is a safe and effective option to treat coexistent HFS and TN due to microvascular confliction.
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Project description:PurposeA 59-year-old man with retinitis pigmentosa, who received an Argus II retinal prosthesis in the left eye 3 years prior, presented with left-sided involuntary facial contractions that occurred only after turning on the Argus II device.MethodsA case report.ResultsGiven that this patient's reported and visualized lower eyelid twitching corresponds to the location of the external region of the implanted coil, we hypothesize that heat or wirelessly transmitted electrical signals from the external coil to the implanted coil may induce spasm of the facial nerve and thus play a role in hemifacial spasm onset.ConclusionsTo our knowledge, this is the first report of hemifacial spasm associated with Argus II use.
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Project description:Hemifacial spasm (HFS), which is a rare clinical entity, occurs most commonly due to vascular structures at facial nerve root entry zone. Tumor as a cause of HFS is rarely described in the literature. Here, we describe an unusual case of HFS which is caused by contralateral tentorial meningioma. The pathology, etiology, and surgical treatment have been discussed.
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Project description:BackgroundProgressive hemifacial atrophy (PHA) is a rare and progressive condition of unknown etiology that is characterized by chronic progressive atrophy of the skin, subcutaneous tissue, muscle, and bone on 1 side of the face. However, its precise pathogenesis remains poorly understood.Case presentationHere, we report a case of PHA, which manifested as left-sided facial atrophy. Whole-exome sequencing of peripheral blood samples from the patient and his parents, together with bioinformatics analyses, led to the identification of mutations in ARHGAP4 and CFAP47.ConclusionThis report is the first to describe ARHGAP4 and CFAP47 mutations in a patient with PHA. These mutations may be related to the occurrence of hemifacial atrophy, although further studies are needed to clarify the role of ARHGAP4 and CFAP47 in the context of PHA pathogenesis.
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