Focal dermal hypoplasia. Goltz syndrome. A case report

Focal dermal hypoplasia (Goltz syndrome) is a rare syndrome comprising developmental anomalies of tissues and organs of mesoectodermal origin. As a result, there are abnormalities of the eyes, skin, oral structures, musculoskeletal system and central nervous system. This article describes the case of a four-year-old female with focal dermal hypoplasia (FDH) who displayed many of the oral features associated with this syndrome. Her condition was complicated by recurrent episodes of facial cellulitis in relation to skin lesions of the face. This is an unusually severe case of FDH with previously unreported association of cutaneous anomalies and facial cellulitis.     

Focal dermal hypoplasia: updates

Focal dermal hypoplasia (FDH), or Goltz–Gorlin syndrome, is a rare syndrome and may result in multisystem disorders. Several reviews of FDH have been published. However, the last comprehensive review of this disorder appeared more than 20 years ago. To date, a number of new clinical manifestations have been reported and considerable knowledge has accumulated regarding etiology and pathogenetic mechanisms. The purpose of this review is to gather these more recent data and to provide organized and reliable information. So we reviewed 159 cases of FDH that had been reported from 1990 to 2012, summarized the new discoveries, and suggested a potential standard for the diagnosis of FDH. We also reported on a Chinese girl with FDH, who was clinically and histologically in accord with FDH, as an example.     

Focal dermal hypoplasia: oral and dental findings

Focal Dermal Hypoplasia/Goltz Gorlin syndrome is a rare syndrome characterized by widespread dysplasia affecting tissues of mesodermal and ectodermal origin with cutaneous, osseous, ocular, oral and dental defects. Enamel hypoplasia is the most commonly reported dental manifestation and has recently been described as a possible manifestation of Lyonisation. This article reviews the reported dental findings and reports a new case with typical findings of focal dermal hypoplasia, which has been under review on our department for 10 years. It discusses the differential diagnosis as well as newer concepts of aetiology and pathogenesis in relation to dental anomalies. Enamel hypoplasia may make plaque control difficult, resulting in generalized gingivitis. Hand anomalies may limit dexterity and exacerbate this. From the dental standpoint we emphasize the implementation of timely preventive and/or therapeutic strategies. Since there are periods of exacerbation during the course of this syndrome, regular surveillance from an early age with the frequency of visits increasing during and after adolescence is indicated. The role of the dentist in improving aesthetics and function can have tremendous psychological impact to enhance self-esteem of such patients.     

Focal dermal hypoplasia: management of complex dental features

A 17 year-old female who presented for treatment of grossly carious lower first molar teeth had multiple features of Focal Dermal Hypoplasia (FDH). These included enamel pitting and hypoplasia, anomalies of shape, size and positioning of teeth, as well as soft tissue papillomas and telangiectasis of tongue. A case report and a synopsis of the syndrome (FDH) are presented, the oral aspects of the condition are reviewed and the management of the complex dental anomalies is discussed.     

Focal dermal hypoplasia -- oral and dental findings

This report describes the case of an 8-year-old girl with focal dermal hypoplasia. As well as deformities affecting her hands and feet she had marked facial asymmetry, one diminutive eye and coloboma affecting the other. Intraorally, the patient had papillomas at the base of the tongue and tonsils. Her teeth showed irregular spacing, hypodontia, enamel hypoplasia, anomalous tooth form and delayed development. Radiographically, several teeth showed abnormal form. The patient's previous surgical experiences had adversely affected her behaviour and treatment has been limited to patient motivation and oral hygiene instructions, acclimatization, and simple restorative care.     

Focal fibrous overgrowths: a case series and review of literature

Intraoral fibrous overgrowths of the soft tissues are relatively common and may be benign reactive or neoplastic lesions. A series of 10 lesions is presented which included pyogenic granuloma, fibroma and peripheral ossifying fibroma. Almost all the lesions occurred in the second and third decades and were present in the anterior segment of the jaws, with a distinct female predilection. Majority of these lesions were asymptomatic and the patients reported for treatment only due to the discomfort during function. Histopathologic examinations were done for diagnosis of these lesions. Surgical excision along with removal of causative irritants remains the treatment of choice. The extent of excision should depend on the severity of the lesion, as some of these lesions have a tendency for recurrence. All the patients in this series were closely followed up for a period of 2 years and showed no signs of recurrence.     

Focal dermal hypoplasia. Current concepts and differential diagnosis

Focal dermal hypoplasia syndrome (FDH) is a congenital disorder of mesodermal derivation with some ectodermal participation. The disorder, first described in 1962, is characterized by tenacious defects consisting of thinning of the skin; herniations of adipose tissue; abnormal skin pigmentation and other skeletal, dental, ocular, hair, and nail abnormalities. A rare instance of focal dermal hypoplasia syndrome is reported as characterized by papillary gingival hyperplasia. Differential diagnostic guidelines that separate focal dermal hypoplasia from a host of other skin and mucous membrane disorders are discussed along with therapeutic modalities and the possible relationship of human papillomavirus to focal dermal hypoplasia syndrome.     

Osteoplastic ameloblastoma: a case report and literature review

Ameloblastoma with bone formation is rare. We report a case of a 55-year-old woman with ameloblastoma accompanied by prominent osteoplasia. Histopathological examination exhibited an abundant stromal component between tumor nests. Therefore, she was diagnosed as the desmoplastic variant, except for the numerous bone trabeculae. The distinction between new bone formation and invasion of the bone marrow poses a problem. A thin rim of fibrous bone that can be accentuated by Masson-trichrome staining suggests the former.     

Endodontic-related paresthesia: a case report and literature review

Introduction

Endodontic-related paresthesia is a potential complication despite the development of endodontic materials and techniques. We describe a case of periapical lesion-induced paresthesia that was successfully treated endodontically. The literature review of endodontic-related paresthesia is also presented.

Methods

The patient sought treatment from a general practitioner for lower lip paresthesia as the only symptom. Paresthesia was present on the left side of the lower lip extending from the mandibular midline to the second premolar both extraorally and intraorally in the area of mental nerve stem. Apical lesion of an endodontically treated second premolar with short obturation was observed radiographically. Retreatment was unsuccessful at reaching the apex; instead, swelling, pain, and extension of numbness on the region resulted, and the patient was referred to an endodontist.

Results

The root canal chemomechanical debridement was completed, and calcium hydroxide was placed for the follow-up. Two months later the symptoms had significantly improved, the radiograph indicated partial healing, and the tooth was obturated. The healing progressed so that the symptoms completely resolved within a year after the treatment.

Conclusions

Periapical pathosis might cause paresthesia with a good potential for healing after appropriate endodontic treatment. Complications might be prevented by careful preoperative examination, good quality radiographs, and good instrumentation, irrigation, and obturation techniques. However, according to the literature paresthesia might still occur. In case of treatment-related paresthesia in which apical extrusion of endodontic materials is observed, the need for surgical debridement (especially in cases of extrusion of obturation materials) should be considered within 48 hours.     

Erythema multiforme: a literature review and case report

Erythema multiforme is a florid mucocutaneous disease characterized by oral, cutaneous, and ocular manifestations. The cutaneous lesions are pathognomonic because of their unique "target-like" appearance. A severe form of EM has been termed "Stevens-Johnson Syndrome". Although the etiology of EM is unknown, much of the research suggests an immunological association with HSV. The diagnosis of EM is based on signs and symptoms, and a differential diagnosis should include other ulcerative, mucocutaneous diseases, such as erosive lichen planus, pemphigus, varicella zoster, ANUG, TEN, aphthous stomatitis, and primary HSV. Therapeutic measures are palliative, including a soft bland diet, topical anesthetics, and corticosteroids. A case of EM is described which underscores the appearance of the disease and its clinical course.     

Oral myiasis: a case report and literature review

Myiasis is the infestation of tissues and organs of animals and humans by certain Dipteran fly larvae. This phenomenon is well documented in the skin, especially among animals and people in tropical and subtropical areas. Oral myiasis is a rare condition and can be caused by several species of Dipteran fly larvae and may be secondary to serious medical conditions. Upon removal of the larvae, the tissues seem to recover with no subsequent complications and with no need for further treatment. Here we describe a case of oral myiasis within the gingiva of a healthy young man caused by the larvae of Wohlfahrtia magnifica (Family Sarcophagidae), in which infection may have been due to ingestion of infested flesh. Reviewing the literature revealed that most cases of oral myiasis tend to be multiple and to occur in anterior segments of the jaws rather than in posterior segments as in the case we describe here.     

Hereditary angioedema: a case report and literature review

Hereditary angioedema is an autosomal dominant condition with a typical presentation of diffuse edematous, painless, and nonpitting swelling of the soft tissues. The disease manifests itself primarily in the extremities, face, airway, and abdominal viscera. Proper diagnosis and treatment are essential as this condition has the capacity of becoming life-threatening due to potential airway embarrassment. This case report demonstrates the complexity of diagnosing and treating hereditary angioedema. Hereditary angioedema often is overlooked on a differential diagnosis of patients suffering from diffuse swelling and/or abdominal discomfort. Nonetheless, the diagnosis of hereditary angioedema should be included when assessing patients who display the proper symptomology and familial history of the condition.     

传染性单核细胞增多症一例及文献复习

传染性单核细胞增多症（IM）是一类常见的由EB病毒感染所引起的急性传染性疾病,由于临床表现缺乏特异性,常被误诊。本文报道1例以颈部淋巴结肿大为首发症状的IM,结合文献对该疾病的临床表现、病原学诊断、抗病毒治疗及激素治疗方面进行讨论、分析。     

Phantom bite: a case report and literature review

Objective:

Phantom bite is a rare and challenging condition that dentists may encounter in their daily clinical practice. Patients with phantom bite typically present with many failed repeated occlusal treatments, such as full-mouth prosthetic reconstructions and orthodontic treatments, to overcome their distressing symptoms.

Method and result:

A 55-year-old female with no history of medical problems presented with bite discomfort. She complained of discomfort from a “bite” and pressure-like feeling in her right upper three maxillary posterior teeth. Examination revealed no temporomandibular disorder (TMD) abnormalities. A thorough evaluation of her oral structures revealed no dental, periodontal, or mucosal pathologies.

Conclusion:

Owing to the great potential of conditions for financial loss and litigation problems, dentists, particularly those who perform bite-changing procedures, should be aware of this condition. This case is presented to highlight many of the clinical characteristics of phantom bite.     

Focal dermal hypoplasia (Goltz-Gorlin) syndrome with taurodontism

This paper is a case report of a 10-year-old girl with focal dermal hypoplasia (FDH) who presented for dental care. She displayed many of the well-documented oral features associated with this syndrome. Additionally, she had taurodontism of a permanent mandibular molar. Although taurodontism affected only one tooth in this patient, the presentation of taurodontism with FDH has not been reported previously .     

Focal parotid necrosis in systemic lupus erythematosus: case report and review of the literature.

Systemic lupus erythematosus (SLE) is a disease that may affect a number of organ systems, particularly the joints, skin, kidneys, heart, lungs, and immune system. Salivary gland involvement is usually associated with Sj?gren's syndrome, in which lymphocytic acinar infiltrates predominate histologically. We present the case of a 29-year-old woman with SLE who developed bilateral parotid enlargement with a unilateral focus of parotid necrosis that was consistent with a cystic mass on computerized tomography. A biopsy of this lesion was histologically similar to a cervical lymph node biopsy in the same patient, with both specimens showing loss of architecture and foci of necrosis consisting of nuclear dust, histiocytes, and scattered plasma cells without formation of granulomata or presence of multinucleated giant cells; these findings are classic for SLE lymphadenopathy. We believe this to be the first reported case of focal necrosis in the parotid gland directly associated with SLE.     

特发性牙龈纤维瘤病病例报道及文献回顾

目的探讨特发性牙龈纤维瘤病的病因、临床表现、诊断、鉴别诊断及治疗方法,为临床诊疗提供参考。方法对1例发生于口腔的特发性牙龈纤维瘤病病例的临床资料及相关文献进行回顾性分析。结果该病例行全口牙周基础治疗,前牙区牙周手术治疗后,牙龈形态得到改善。特发性牙龈纤维瘤病是一种罕见的以牙龈组织增生为主要特征的疾病,病因及发病机制不明。该病可在幼儿时就发病,一般发生在恒牙萌出后,表现为牙龈广泛地逐渐增生,可累及全口的牙龈缘、龈乳头和附着龈,甚至达膜龈联合处,病理变化的特点是牙龈上皮的棘层增厚,上皮钉突明显增长,结缔组织体积增大,充满粗大的胶原纤维束和大量成纤维细胞,血管相对较少,炎症不明显。在临床上需与药物性牙龈增生、以增生为主要表现的慢性龈炎等疾病相鉴别。目前特发性牙龈纤维瘤病的治疗以牙龈切除术为主。该病手术后易复发,复发率与口腔卫生维护有关,复发后可再次手术治疗。结论特发性牙龈纤维瘤病较为罕见,诊断主要依靠病史询问、临床表现和病理检查,治疗方法主要为手术切除,今后的研究方向应致力于寻找更有效的治疗方法。