1/33. 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 = palm (Clic here for more details about this article) |
2/33. 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 = palm (Clic here for more details about this article) |
3/33. Nevoid basal cell carcinoma syndrome and non-Hodgkin's lymphoma.Nevoid basal cell carcinoma syndrome (NBCCS) is a hereditary disorder with a predilection for numerous basal cell carcinomas in addition to odontogenic keratocysts, palmoplantar pitting, and skeletal malformations. NBCCS has been associated with a number of benign and malignant neoplasms. We report the first case of NBCCS in association with non-Hodgkin's lymphoma.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
4/33. Basal cell carcinoma of the eyelid associated with Gorlin-Goltz syndrome.PURPOSE: To describe the ophthalmic and systemic features in a series of patients initially seen with eyelid basal cell carcinoma associated with Gorlin-Goltz syndrome. DESIGN: Retrospective noncomparative case series. PARTICIPANTS: Of 105 consecutive patients with eyelid basal cell carcinoma managed at an Ocular Oncology Center between January 1973 and December 1999, four patients with Gorlin-Goltz syndrome were identified. methods: The ophthalmic and systemic features, management, and outcome of patients with eyelid basal cell carcinoma associated with Gorlin-Goltz syndrome were analyzed. The published literature on Gorlin-Goltz syndrome, specifically related to genetics, systemic features, ophthalmic associations, and prophylactic management strategies, was reviewed. MAIN OUTCOME MEASURES: Response of the eyelid basal cell carcinoma to treatment and the final systemic condition were the main outcome measures. RESULTS: All four patients had a family history of Gorlin-Goltz syndrome. The systemic manifestations included multiple basal cell carcinomas in all the patients, frontal bossing or increased occipitofrontal circumference in three patients, palmar pits in two patients, odontogenic keratocyst in one patient, ectopic calcification in one patient, and bifid rib in one patient. The mean age at the detection of the first basal cell carcinoma was 30 years (range, 16-38 years). All four patients had multiple basal cell carcinomas on the face and elsewhere. The eyelid basal cell carcinoma was advanced with orbital infiltration in three patients, one of whom opted for palliative radiotherapy, whereas the other two underwent orbital exenteration. The fourth patient, who had localized recurrent basal cell carcinoma in the upper eyelid, was treated with excision and eyelid reconstruction. At the final follow-up (mean, 41 months), eyelid basal cell carcinoma was cured in three patients and stable in one patient. No patient had life-threatening sequelae of Gorlin-Goltz syndrome. CONCLUSIONS: Gorlin-Goltz syndrome is a rare autosomal dominant cancer predisposition syndrome that may be associated with eyelid basal cell carcinoma. The associated systemic findings may be a clue to the diagnosis of this condition. It is important to recognize Gorlin-Goltz syndrome when a patient has multiple basal cell carcinomas or when a young patient with eyelid basal cell carcinoma is seen by an ophthalmologist, because lifelong monitoring is essential for patient management.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
5/33. Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental and skeletal anomalies, palmo-plantar pits, odontogenic keratocysts, ectopic calcification, and occurrence of various types of tumors including basal cell carcinoma. Recent evidence has indicated that the human homologue of a drosophila segment polarity gene, PTCH, is a NBCCS susceptibility gene. In the study presented here, we detected two novel mutations of the PTCH gene, I805X/2395delC and Y93X/C297A, in two unrelated Japanese patients. Early protection of the skin from the sunlight is important to the prevention of BCC development in NBCCS patients. Genetic analysis of the PTCH gene is essential for the early, definitive diagnosis of NBCCS, especially before the expression of clinical manifestations is complete.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
6/33. 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 = 1keywords = palm (Clic here for more details about this article) |
7/33. Novel mutations in the PATCHED gene in basal cell nevus syndrome.basal cell nevus syndrome (BCNS) is an autosomal dominant disease characterized by the presence of multiple basal cell carcinomas, odontogenic keratocysts, palmoplantar pits, and calcification in the falx cerebri caused by mutational inactivation of the PTCH gene. To investigate the molecular basis of BCNS in Chinese, we did a mutational analysis of the PTCH gene by performing denaturing high-performance liquid chromatography in three BCNS families. In this study, three novel mutations, two 1-bp frameshift insertions, i.e., 1468insA and 2392insC, and one 8-bp deletion, i.e., IVS5 1delGTAAGTGT, affecting a donor splice site, were identified. All the mutations cause a shift of the open reading frames and lead to premature termination of PTCH protein translation. Our results showed that mutational inactivation of the PTCH gene causes BCNS in Chinese.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
8/33. 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 = palm (Clic here for more details about this article) |
9/33. Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome.We report a child with a de novo interstitial deletion, 46,XY, int del(9)(9q22.31-q31.2). Cytogenetic and molecular analysis defined the boundaries of the lost region, of paternal origin, from D9S1796 to D9S938. The clinical picture included macrocephaly, frontal bossing, bilateral epicanthus, down-slanted palpebral fissures, low-set ears, hypoplastic nostrils, micrognathia, scoliosis, right single palmar crease, small nails, slender fingers, bilaterally flexed 5th finger, delayed bone age, abnormal metacarpophalangeal pattern (MCPP) profile and sole pits. No major malformation was recorded. The deleted region includes, among others, the PTCH and ROR2 genes. Mutations of the former cause the nevoid basal cell carcinoma syndrome (NBCCS) while mutations in the ROR2 gene have been found both in Robinow syndrome and in brachydactyly type 1B (BDB1). As the patient shows some clinical manifestation of both syndromes, we conclude that phenotypic changes related to haploinsufficiency of PTCH and ROR2 are recognisable in our patient even at a young age and in the presence of the more complex phenotype due to the deletion's large size. Thus the efforts to identify the genes included in a deletion are worthy as they may result in better care of the patient as, in this case, monitoring the possible development of tumours associated with NBCCS.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
10/33. 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 = palm (Clic here for more details about this article) |
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