基底细胞痣综合征

基底细胞痣综合征(Basal C N vus Syudrome简称BCNS)是由易恶变为基底细胞癌的多发性基底细胞痣、多发性颌骨囊肿、脊柱和肋骨异常、脑内钙化以及各种其他缺陷所组成的一种复杂少见的综合征,属常染色体显性遗传性疾病。本征的命名很不一致,曾用过痣样基底细胞上皮瘤综合征(Nevoid basal cell epithelioma Syndrome)、痣样基底细胞癌     

多发性基底细胞痣综合征6例报告

<正> 多发性基底细胞痣或基底细胞癌综合征的主要表现包括多发性痣样基底细胞癌或基底细胞痣、颌骨囊肿,颅骨畸形和异位钙化(如大脑镰钙化)等。本综合征属常染色体显性遗传,有明显的家属性。     

13例痣样基底细胞癌综合征的临床、X线及组织病理表现

这种同时出现有多发性痣样基底细胞上皮瘤、多发性颌骨囊肿、双叉肋及其他骨骼常异的疾患,为Gorlin等于1960年首先报告。目前均认为此病为一种特殊的综合征。同义词尚有“基底细胞痣综合征”、“多发性基底细胞痣综合征”、“痣样基底细胞癌综合征”等。此综合征有多种不同表现,主要有:①     

痣样基底细胞癌综合征家系1例

痣样基底细胞癌综合征是一种罕见的常染色体显性遗传病,以发育异常和肿瘤发生为主要临床特征。本文报告1例痣样基底细胞癌综合征家系,并结合相关文献对该病的发病率、发病机制、临床表现、治疗方法等进行讨论。     

��������ϸ�����ۺ���1������

痣样基底细胞癌综合征(nevoid basal cell carcinomasyndrome,NBCCS)又称Gorlin综合征,是一种罕见的家族性常染色体显性遗传病。我院收治1例痣样基底细胞癌综合征病例,报道如下。1病例资料患者男,44岁,于2011年1月12日以     

痣样基底细胞癌综合征1例报道

痣样基底细胞癌综合征(nevoid basal cell carcinoma syndrome,NBCCS)是一种少见的常染色体显性遗传病,临床表现多达一百多种,主要临床表现为皮肤基底细胞癌,颌骨牙源角化囊性瘤（odontogenic keratocystic tumor, OKC）,手掌及脚底的过度角化、点状凹陷,颅骨异常,小脑镰钙化,眶距增宽,面部畸形,巨头巨脑畸形,唇腭裂等。本文报告1例痣样基底细胞癌综合征,并结合相关文献对该病的发病机制、发病率、临床表现、诊断、治疗方法等进行讨论。     

痣样基底细胞癌综合征伴先天性左眼缺失1例

痣样基底细胞癌综合征（NBCCS）又称基底细胞痣综合征或Goltz-Gorlin综合征，是一种复杂且罕见的常染色体显性遗传疾病，大量研究文献证实PTCH1基因与NBCCS有关。本文报道1例NBCCS伴先天性左眼缺失的病例，并结合相关文献探讨以进一步了解该综合征。     

多数痣样基底细胞癌综合症(两例病案报告)

发现多数痣样基底细胞癌综合症已20多年。就国外资料而言,到1980年为止已发表了400多例。国内尚未见详细报导。自1978年以来,我院收治了两例多数痣样基底细胞癌综合症的病例,现报告如下。 病例一:马××,男,27岁。因头面部多数黑色素包块,颌骨囊性病变三次入院(1981年11月,1982年10月,1983年12月)。     

痣样基底细胞癌综合征1例报告

痣样基底细胞癌综合征（Naevoid basal cell carcinoma syn-drome,NBCCS）又称Gorlin-Goltz综合征。由White于1894首次描述,是由皮肤基底细胞癌、多发性颌骨角化囊肿及骨骼系统异常和各种其他病变组成的综合征,常伴有多器官发育障碍。我科最近收治1例,报告如下。     

真孪生兄弟同患基底细胞痣综合综合征病例报告

真孪生兄弟同患基底细胞痣综合综合征病例报告江苏省镇江市第一人民医院口腔科赵进录,施曾平,沈蕴华,孙肇基基底细胞痣综合征,主要表现为多发性基底细胞痣或基底细胞癌,颌骨囊肿,骨骼畸形和异位钙化等。此综合征较少见,而真孪生兄弟同患此综合征更为罕见。现将我院...     

PTCH mutations in sporadic and Gorlin-syndrome-related odontogenic keratocysts

Odontogenic keratocysts are relatively common lesions that may occur in isolation or in association with nevoid basal cell carcinoma syndrome (or Gorlin syndrome). The PTCH gene has been reported to be associated with Gorlin syndrome. We investigated 10 cases of non-syndromic keratocysts and two other cases associated with Gorlin syndrome, looking for PTCH mutations. Four novel and 1 known PTCH mutations were identified in five individual patients. Of the 5 mutations identified, 2 were germ-line mutations (2619C>A; 1338_1339insGCG) in 2 cysts associated with Gorlin syndrome, and 3 were somatic mutations (3124_3129dupGTGTGC; 1361_1364delGTCT; 3913G>T) in 3 non-syndromic cysts. This report describes PTCH mutations in both non-syndromic and Gorlin-syndrome-related odontogenic keratocysts in Chinese patients, and suggests that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic keratocysts.     

Bilateral Odontogenic Keratocyst of the Mandible

Odontogenic keratocyst (OKC) is a cyst of dental origin with an aggressive clinical behavior, having high recurrence rate. Multiple cysts are associated with bifid-rib basal cell nevus syndrome (Gorlin syndrome). We present a case of bilateral odontogenic keratocyst in a cleft lip patient.     

Simultaneous adenomatoid odontogenic and keratocystic odontogenic tumours in a patient with Gorlin‐Goltz syndrome

Gorlin and Goltz described a syndrome in which multiple basal cell carcinomas, odontogenic keratocysts and bifid ribs occurred in combination. The jaw keratocysts are a consistent feature of ‘Gorlin‐Goltz’ or naevoid basal cell carcinoma syndrome. Central nervous system and ocular involvement occurred together with the fairly typical facial features of frontal bossing and hypertelorism. This case report documents the pathology associated with an impacted maxillary canine tooth in a boy with Gorlin‐Goltz syndrome. The patient presented for investigation of the failure of eruption of the right permanent maxillary canine tooth. Radiographic investigation showed the presence of a well circumscribed radiolucency located around the crown of an impacted right maxillary canine tooth. The patient's medical history revealed a medulloblastoma that was treated 13 years ago. The right maxillary canine tooth and associated peri‐coronal tissue were removed under general anaesthetic. A diagnosis of a keratocystic odontogenic tumour with an associated adenomatoid odontogenic tumour was made. The common differential diagnoses for a peri‐coronal radiolucency in the maxilla that need to be considered by dentists include a dentigerous cyst, follicular keratocystic odontogenic tumour and adenomatoid odontogenic tumour. A rare case of both keratocystic odontogenic tumour and associated follicular adenomatoid odontogenic tumour is described in a patient with naevoid basal cell carcinoma syndrome.     

Gorlin-Goltz syndrome and neoplasms: a case study

Gorlin syndrome is a rare autosomal dominant disorder exhibiting high penetrance and variable expressivity. It is characterized by facial dysmorphism, skeletal anomalies, multiple basal cell carcinomas, odontogenic keratocysts (OKC), palmar and plantar pits, bifid ribs, vertebral anomalies and a variety of other malformations. Various neoplasms, such as medulloblastomas, meningiomas, ovarian and cardiac fibromas are also found in this syndrome. Objective: To describe a twelve-year-old patient with Gorlin-Goltz syndrome, with basal cell carcinomas and promyelocytic leukemia developed after receiving craniospinal radiation for a medulloblastoma. Bifid ribs as well as mandibular and maxillar OKC were also diagnosed Conclusion: The patient with Gorlin-Goltz syndrome should receive close follow-up for early detection of malformations nd malignant neoplasias.     

Gorlin syndrome: a case report

Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. It is characterized mainly by Basal cell carcinomas, Odontogenic keratocysts and skeletal anomalies. However, medical literature documents both common and lesser known manifestations of the disorder involving the skin, central nervous system, skeletal system etc. Diagnosis of the syndrome in childhood is basically through oral abnormalities. A case of Gorlin syndrome has been reported here, with review of literature.     

Contributions of PTCH gene variants to isolated cleft lip and palate.

OBJECTIVE: Mutations in patched (PTCH) cause the nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome. Nevoid basal cell carcinoma syndrome may present with developmental anomalies, including rib and craniofacial abnormalities, and predisposes to several tumor types, including basal cell carcinoma and medulloblastoma. Cleft palate is found in 4% of individuals with nevoid basal cell carcinoma syndrome. Because there might be specific sequence alterations in PTCH that limit expression to orofacial clefting, a genetic study of PTCH was undertaken in cases with cleft lip and/or palate (CL/P) known not to have nevoid basal cell carcinoma syndrome. RESULTS: Seven new normal variants spread along the entire gene and three missense mutations were found among cases with cleft lip and/or palate. One of these variants (P295S) was not found in any of 1188 control samples. A second variant was found in a case and also in 1 of 1119 controls. The third missense (S827G) was found in 5 of 1369 cases and in 5 of 1104 controls and is likely a rare normal variant. Linkage and linkage desequilibrium also was assessed using normal variants in and adjacent to the PTCH gene in 220 families (1776 individuals), each with two or more individuals with isolated clefting. Although no statistically significant evidence of linkage (multipoint HLOD peak = 2.36) was uncovered, there was borderline evidence of significant transmission distortion for one haplotype of two single nucleotide polymorphisms located within the PTCH gene (p = .08). CONCLUSION: Missense mutations in PTCH may be rare causes of isolated cleft lip and/or palate. An as yet unidentified variant near PTCH may act as a modifier of cleft lip and/or palate.     

Development of a targeted gene panel for the diagnosis of Gorlin syndrome

Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the PTCH1, PTCH2, and SUFU genes. Each symptom of the disease has a different time point of onset, which makes early diagnosis based solely on symptoms challenging. In this study, a gene panel was developed to overcome the challenges in the diagnosis of Gorlin syndrome and allow diagnosis using a single test. A custom panel was generated for four genes associated with Gorlin syndrome: PTCH1, PTCH2, SMO, and SUFU. Twenty-seven samples from 12 patients with Gorlin syndrome and three asymptomatic blood relatives of the patients were examined. This panel was highly reliable with a high Q30 quality score, on-target ratio, and coverage. The panel was time- and cost-efficient and enabled the detection of more mutations than whole-exome sequencing for the same patient. Pathogenic mutations in both PTCH1 and PTCH2 were detected in five of the 12 patients with Gorlin syndrome who were diagnosed based on clinical symptoms. Using this panel, the same mutation was identified in the patients and their blood relatives. In summary, this panel facilitated the highly reliable genetic diagnosis of Gorlin syndrome at a low cost, using only blood samples.     

New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome

Naevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is inherited in an autosomal dominant mode characterised by a combination of developmental anomalies and a predisposition to form tumours. Our aim was to search for patched homologue 1 (PTHC1) mutations in a Chinese family with NBCCS. Mutation analysis of PTCH1 was done of all 10 members of this family by amplified polymerase chain reaction and direct sequencing. Two novel PTCH1 mutations (3146A→T, 1686C→T) were identified in all five affected members. The mutation, 3146A→T in exon 17, is predicted to lead to different PTCH protein translations. 1686C→T mutation in exon 11 is a nonsense mutation. These mutations were not found in any unaffected members of this family or in 100 unrelated healthy Chinese people. Our findings suggest that the 3146A→T mutation in the PTCH gene may be the cause of NBCCS by affecting the conformation and function of the PTCH protein.     

Basal cell nevus syndrome: clinical and genetic diagnosis

Introduction

Basal cell nevus syndrome (BCNS), also known as Gorlin–Goltz syndrome, comprises five main pathological features: nevoid basal cell carcinomas, keratocystic odontogenic tumors, congenital skeletal anomalies, calcification of the falx cerebri, and point skin depressions on the palms and/or soles. The disease exhibits a dominant autosomal hereditary trait, with implication of the human homologue of the Drosophila segment polarity Patched (PTCH) gene. BCNS is diagnosed on the basis of clinical and radiological criteria and can be confirmed by genetic study. The patient prognosis is very good, with normal life expectancy in most cases.

Methods

The present study reports two cases of BCNS with the presence of maxillo-mandibular keratocystic odontogenic tumors.

Results

One case was diagnosed according to clinical criteria, while the other required genetic confirmation that revealed a germ line mutation in exon 17 (c.2868delC), not previously described in the databases, which was considered to be responsible for the disease.     

Odontogenic keratocyst: the northwestern USA experience

Odontogenic keratocyst (OKC) is a cyst of tooth origin with an aggressive clinical behavior including a high recurrence rate. OKC demographics in the northwestern United States are presented and compared to those reported elsewhere. A total of 430 cases were obtained from 393 patients of the northwest region over a period of 15 years. Data evaluated included: site, gender, age, race, and association with bifid-rib basal cell nevus syndrome (Gorlin syndrome). Site distribution of the northwest group was similar to that of international groups. For the northwest group, the most common lesion location was the body of the mandible. Gender distribution in the northwest group appeared similar to other reports made in Denmark, England, Japan, and other regions in the United States. However, when gender distribution was compared by decade of life, the northwest group had the largest cluster of males in the fourth decade and of females in the second decade. The greatest frequency in both genders occurred in the third decade. There were 18 of 258 (6.9%) male patients with OKC under age 10 in the northwest group and nearly 80% of the patients were Caucasian. The race factor is rarely described in other reports. Gorlin's syndrome was present in 5% of the patients, with a higher distribution in the first and second decades. In conclusion, this is the first report of OKC cases from the Pacific Northwest region of the United States of America.