1/49. Multiple hereditary infundibulocystic basal cell carcinomas: a genodermatosis different from nevoid basal cell carcinoma syndrome.BACKGROUND: Infundibulocystic basal cell carcinoma is a recently described distinctive clinicopathologic variant of basal cell carcinoma. Histopathologic differential diagnosis among infundibulocystic basal cell carcinoma, trichoepithelioma, and basaloid follicular hamartoma has generated controversy in the literature. OBSERVATIONS: Members of 2 families with multiple infundibulocystic basal cell carcinomas are described. Each patient showed multiple papular lesions, mostly located on the face. No patient showed palmar pits or jaw cysts. Forty-two cutaneous lesions from 5 patients were studied histopathologically. Thirty-nine lesions were infundibulocystic basal cell carcinomas. This clinicopathologic variant of basal cell carcinoma consists of a relatively well-circumscribed basaloid neoplasm composed of buds and cords of neoplastic cells arranged in anastomosing fashion and with scant stroma. Some of the neoplastic cords contain tiny infundibular cysts filled by cornified cells with abundant melanin. Linkage analysis in family 2 was performed using polymorphic markers (D9S196, D9S280, D9S287, and D9S180), and the affected members shared the same haplotype. loss of heterozygosity analysis was performed in 2 affected members of this family from whom tumoral dna was available, and although these individuals were constitutively heterozygous for D9S196, they did not show loss of heterozygosity for this marker in their neoplasms. CONCLUSIONS: Multiple hereditary infundibulocystic basal cell carcinomas represent a distinctive genodermatosis different from multiple hereditary trichoepitheliomas and nevoid basal cell carcinoma syndrome. We propose clinical and histopathologic criteria to distinguish infundibulocystic basal cell carcinoma from trichoepithelioma, basaloid follicular hamartoma, and folliculocentric basaloid proliferation.- - - - - - - - - - ranking = 1keywords = jaw (Clic here for more details about this article) |
2/49. Aggressive basal cell carcinoma of the temporal region in a patient with Gorlin-Goltz syndrome.Gorlin-Goltz syndrome is an autosomal dominant disorder with variable penetration characterized primarily by five major findings: multiple basal cell carcinomas presenting at a young age, pits on the palms and soles, skeletal abnormalities, jaw cysts, and ectopic calcification of the falx cerebri and other structures. When the basal cell carcinomas are located in the head and neck there is a high risk of invasion of deep structures if early and radical treatment is not performed. The authors present a 59-year-old man affected by basal cell carcinoma in the context of Gorlin-Goltz syndrome. Although patients with this syndrome can present aggressive basal cell carcinomas, it is unusual to find them involving the craniofacial bones. In this patient the basal cell carcinoma involved the middle ear, the intrapetrous aspect of the facial nerve, and the dura mater. The reconstruction of a wide three-dimensional defect, in which the brain was exposed, was achieved with local flaps and a free musculocutaneous rectus abdominis flap. Factors affecting reconstruction in the lateral cranial base are discussed.- - - - - - - - - - ranking = 1keywords = jaw (Clic here for more details about this article) |
3/49. PTCH gene mutations in odontogenic keratocysts.An odontogenic keratocyst (OKC) is a benign cystic lesion of the jaws that occurs sporadically or in association with nevoid basal cell carcinoma syndrome (NBCCS). Recently, the gene for NBCCS was cloned and shown to be the human homologue of the drosophila segment polarity gene Patched (PTCH), a tumor suppressor gene. The PTCH gene encodes a transmembrane protein that acts in opposition to the Hedgehog signaling protein, controlling cell fates, patterning, and growth in numerous tissues, including tooth. We investigated three cases of sporadic odontogenic keratocysts and three other cases associated with NBCCS, looking for mutations of the PTCH gene. Non-radioactive single-strand conformational polymorphism and direct sequencing of PCR products revealed a deletion of 5 base pairs (bp) in exon 3 (518delAAGCG) in one sporadic cyst as well as mutations in two cysts associated with NBCCS, a nonsense (C2760A) and a missense (G3499A) alteration. This report is the first to describe a somatic mutation of PTCH in sporadic odontogenic keratocysts as well as two novel mutations in cysts associated with NBCCS, indicating a similar pathogenesis in a subset of sporadic keratocysts.- - - - - - - - - - ranking = 1keywords = jaw (Clic here for more details about this article) |
4/49. Eosinophilic pustular folliculitis in association with nevoid basal cell carcinoma syndrome.This study reports on the clinical and light microscopic features of a nevoid basal cell carcinoma syndrome with the complication of eosinophilic pustular folliculitis. To the authors' knowledge, this is the first report of such an association, which is possibly due to immune dysregulation. Moreover, the patient experienced remission of eosinophilic pustular folliculitis after removal of the jaw cyst. One possible explanation for the remission is that a long-lasting TH, type inflammatory response as a result of the bone defect produces effective cytokines such as interferon-gamma.- - - - - - - - - - ranking = 1keywords = jaw (Clic here for more details about this article) |
5/49. Two male patients with nevoid basal cell carcinoma syndrome from turkey.Nevoid basal cell carcinoma syndrome, also known as Gorlin's syndrome, is a familial autosomal dominant syndrome characterized by multiple basal cell carcinomas, multiple odontogenic keratocysts of the jaws, and skeletal anomalies. Both tumors and malformations of the central nervous system occur with nevoid basal cell carcinoma. medulloblastoma is the primary brain tumor most frequently associated with this syndrome. The authors report in this article two male patients with nevoid basal cell carcinoma syndrome: a 22-year-old male patient with multiple odontogenic keratocysts, who had medulloblastoma at two years and multiple basal cell carcinoma at 10 years of age, and a 15-year-old male patient with skeletal abnormalities and multiple odontogenic keratocysts in the jaws.- - - - - - - - - - ranking = 2keywords = jaw (Clic here for more details about this article) |
6/49. basal cell nevus syndrome: guidelines for early detection.basal cell nevus syndrome is an autosomal dominant condition with complete penetrance and variable expressivity. It is characterized by five major components, including multiple nevoid basal cell carcinomas, jaw cysts, congenital skeletal abnormalities, ectopic calcifications, and plantar or palmar pits. Other features include a host of benign tumors, ocular defects, and cleft lip and palate. Guidelines for diagnosis include a family history, careful oral and skin examinations, chest and skull radiographs, panoramic radiographs of the jaw, magnetic resonance imaging of the brain, and pelvic ultrasonography in women.- - - - - - - - - - ranking = 2keywords = jaw (Clic here for more details about this article) |
7/49. Successful treatment of basal cell carcinomas in a nevoid basal cell carcinoma syndrome with topical 5% imiquimod.Gorlin-Goltz syndrome, also referred to as naevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant skin disease with complete penetrance and inconstancy of the four major findings: multiple naevoid basal cell carcinomas (BCCs), pits on palms and soles, skeletal abnormalities (for example, jaw cysts), and ectopic calcification. The treatment of multiple BCCs is still a matter of debate. We report three cases of multiple BCCs in Gorlin-Goltz syndrome treated with topical 5% imiquimod cream, an immune response modifier. patients were successfully cleared of BCCs after treatment for 6-8 weeks. Histologically no apparent signs of BCC-persistence could be detected and no recurrences were detected during the 12 month follow up period.- - - - - - - - - - ranking = 1keywords = jaw (Clic here for more details about this article) |
8/49. basal cell nevus syndrome concurrent with adenoid cystic carcinoma of salivary gland.basal cell nevus syndrome is a genetically determined disease characterized by 5 major manifestations (multiple basal cell carcinomas, jaw cysts, skeletal abnormalities, pits of the hands and feet, and ectopic calcification) and a variety of developmental anomalies. We present a case of basal cell nevus syndrome in which the patient had adenoid cystic carcinoma of the minor salivary glands develop in the soft palate resulting in distant pulmonary metastases. The patient died at the age of 44 years of respiratory complications. To our knowledge, this is the first simultaneous occurrence of basal cell nevus syndrome with adenoid cystic carcinoma of salivary gland.- - - - - - - - - - ranking = 1keywords = jaw (Clic here for more details about this article) |
9/49. Gorlin's syndrome with a thin corpus callosum and a third ventricular cyst.Gorlin's syndrome (naevoid basal cell carcinoma) is an autosomal dominant tumor-predisposition syndrome, classically consists of multiple basal cell carcinomas of the skin, odontogenic keratocyst of the jaw, various skeletal abnormalities, and lamellar falx calcifications. Many associated lesions have been reported. We report a case of Gorlin's syndrome in a 22-year-old man in whom CT and MR images showed unusual findings of the thin corpus callosum and third ventricular cyst. We present a case of this syndrome with special emphasis on its unusual neuroradiological findings and radiological management.- - - - - - - - - - ranking = 1keywords = jaw (Clic here for more details about this article) |
10/49. Spontaneous recovery from a medulloblastoma by a female with Gorlin-Goltz syndrome.Gorlin-Goltz syndrome is characterized by nevoid basal cell carcinomas, odontogenic keratocysts of the jaws, palmar and plantar pits, falx calcifications, and various cancer susceptibilities attributed to a mutation in a tumor suppressor gene. We present an 11-year-old female with Gorlin-Goltz syndrome. A medulloblastoma was diagnosed when she was 4 years old. She received total excision of the tumor and adjuvant chemotherapy and radiotherapy. One year later, the tumor relapsed with cerebral spinal fluid seeding. She recovered spontaneously with no treatment, and she has not developed basal cell carcinoma within 6 years. This patient with Gorlin-Goltz syndrome had a good prognosis with regard to the medulloblastoma. diagnosis of the syndrome should be made as early as possible to avoid aggressive radiotherapy that may induce basal cell carcinomas.- - - - - - - - - - ranking = 1keywords = jaw (Clic here for more details about this article) |
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