1/216. Apocrine poroma: a distinctive case in a patient with nevoid basal cell carcinoma syndrome. Traditionally, poromas have been classified as eccrine neoplasms, but several recent reports of poroid tumors with sebaceous, follicular, and apocrine differentiation have challenged this idea. In support of alternative differentiation, a case of an "apocrine" poroma is reported in a 19-year-old man with the nevoid basal cell carcinoma syndrome. A papule on the right cheek, thought clinically to be a basal cell carcinoma, was excised. Anastomosing lobules of small uniform basaloid (poroid) cells formed small ductular structures lined by eosinophilic cuticles and extended into the superficial reticular dermis. The neoplasm originated from follicular infundibula and was surrounded by a myxoid stroma. Focally, primitive hair bulb and papillae differentiation was present, and some of the ducts were lined by cells suggesting decapitation secretion. The histologic pattern and the common embryologic origin of the folliculosebaceous-apocrine unit support apocrine differentiation of this tumor. The association with the nevoid basal carcinoma syndrome appears to be unique. This case, in addition, demonstrates overlapping features with the infundibulocystic type of basal cell carcinoma commonly seen in the basal cell nevus syndrome. ( info) |
2/216. Bilateral adrenal cystic lymphangiomas in nevoid basal cell carcinoma (Gorlin-Goltz) syndrome: US, CT, and MR findings. We present a case of bilateral adrenal cystic lymphangioma in a patient with the Gorlin-Goltz syndrome. This case is unique as it is the first illustrated case (US, CT, and MR findings) of a cystic lymphangioma arising within the adrenal gland. In addition, the coexistence of cystic adrenal lymphangioma with the Gorlin-Goltz syndrome has not been described previously. ( info) |
3/216. Neuroendocrine differentiation of a metastatic basal cell carcinoma in a patient with basal cell nevus syndrome. A 48 year-old white male with basal cell nevus syndrome presented with a metastatic basal cell carcinoma with neuroendocrine features. The tumor manifested aggressive behavior, having deep local invasion and metastases to para-aortic lymph nodes and bone. Neuroendocrine differentiation has rarely been associated with basal cell carcinoma. The histologic, immunohistochemical, and electron microscopic studies of this rare tumor are described. ( info) |
4/216. 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. ( info) |
5/216. Involvement of patched (PTCH) gene in Gorlin syndrome and related disorders: three family cases. AIM: To find genetic alterations in PTC or other genes of the Shh/PTCH pathway in tumorous and non- tumorous samples from three families and to correlate them with the varying expression of disorders in presented nevoid basal cell carcinoma syndrome (NBCCS) phenotypes. METHOD: dna was extracted from archival paraffin-embedded tissues, tumor tissue or peripheral blood leukocytes, and the loss of heterozygosity (LOH) and single strand conformational polymorphism analysis was performed using PCR with primers for polymorphic 9q22.3 markers (D9S196, D9S287, D9S180, D9S127); PTCH exons 3, 6, 8, 13, 15, 16; and smo (smoothened) exon 1. G-banding tecnique was used for cytogenetic analysis of the peripheral blood lymphocytes. RESULTS: We found a LOH for PTCH in several cases and variability in smo in one case. In one case NBCCS could reasonably be ascribed to hemizygous PTCH inactivation, while in other two families this typical correlation between the syndrome phenotype and the observed genetic alterations could not been established. CONCLUSIONS: Further analysis of relatively sparse cases of NBCCS is needed before the symptoms of the syndrome could be convincingly explained by genetic alterations in the Shh/PTCH signalling pathway. ( info) |
6/216. Odontogenic keratocysts in a 5-year-old: initial manifestations of nevoid basal cell carcinoma syndrome. The purpose of this paper is to report the occurrence of odontogenic keratocysts in a young child. Odontogenic keratocysts are one of the principal features of nevoid basal cell carcinoma syndrome. Their occurrence in this syndrome is usually during the second or third decades of life. This report describes the occurrence of odontogenic keratocysts in a 5-year-old, which proved to be the initial presentation of nevoid basal cell carcinoma syndrome and highlights the need to consider this syndrome as a possible diagnosis in all cases of odontogenic keratocysts. ( info) |
7/216. 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. ( info) |
| We reported the magnetic resonance imaging of four young patients (13 to 19 years) with nevoid basal cell carcinoma syndrome (NBCCS), which showed empty sella, agenesis of the corpus callosum and empty sella, an interhemispheric lipoma with callosal dysgenesis, and an arachnoid cyst in the posterior fossa, respectively. Calcification of the diaphragma sellae, which is a protective barrier against the pulsating action of the cerebrospinal fluid, may cause the empty sella in NBCCS. ( info) |
9/216. The use of imiquimod 5% cream for the treatment of superficial basal cell carcinomas in a basal cell nevus syndrome patient. BACKGROUND: Imiquimod 5% cream has been used effectively to treat superficial basal cell carcinomas (BCCs). OBJECTIVE: The purpose of this study is to examine the effectiveness, tolerability, and desirability of imiquimod 5% cream in treating superficial non-facial basal cell carcinomas in a patient with basal cell nevus syndrome. methods: Three biopsy-proven nonfacial BCCs were treated for 18 weeks with once daily application of 5% imiquimod cream. The lesions were then removed to search histologically for residual tumor. RESULTS: The two adequately treated tumors revealed no residual BCC upon removal. Our patient reported that he tolerated the treatment but he would not desire this treatment again based on the length of treatment time and the degree of local inflammation at the treatment sites. CONCLUSION: Imiquimod 5% cream appears to be effective in eradicating superficial nonfacial BCCs. The degree of local inflammatory response may affect the patients' tolerability of treatment and therefore patient compliance. ( info) |
10/216. Multiple fibroepithelial basal cell carcinoma of Pinkus associated with seborrheic keratosis in a nevoid distribution. We describe a patient with multiple fibroepithelial basal-cell carcinoma (FEBCC) associated with seborrheic keratosis distributed in a neviform fashion on the left side of the body and clinically resembling skin tags. ( info) |