Nevoid Basal Cell Carcinoma Syndrome Presenting with Neck Pits and Café au Lait Patches

2010 ◽  
Vol 35 (1) ◽  
pp. 95-100 ◽  
Author(s):  
Sathesh Balasundram ◽  
Ferdinand Jesudian Kovilpillai ◽  
Colin Hopper

Background: A 10- year-old patient presented with a slow growing jaw swelling. The initial general examination did not reveal any significant findings. Method: Conservative enucleation of the cyst confirmed it to be an odontogenic keratocyst. The patient remained asymptomatic for the following 2 years and subsequently presented cystic lesions in jaws with displaced teeth. These cysts were enucleated and were confirmed to be odontogenic keratocysts. The patient has been on regular follow up since then and subsequent scans have shown further occurrence of cysts in the jaws with displacement of the third molars. Results:Clinical examination also revealed macrocephaly, fronto-parietal bossing, pitting on palmar and plantar surfaces, calcification of falx cerebri and splayed ribs, confirming the diagnosis of Nevoid Basal Cell Carcinoma Syndrome. He also presented with a café au lait patch and skin pits on the neck. The family history was negative for features of nevoid basal cell carcinoma syndrome. Conclusion: Nevoid basal cell carcinoma syndrome is a condition that can cause significant morbidity if not detected early. Over the years this syndrome has presented with many other non specific phenotype presentation, of which the current finding may be one of. This calls for meticulous assessment and examination of patients and a standardized protocol in screening and managing these patients that may facilitate a more beneficial outcome for the patient.

2006 ◽  
Vol 130 (1) ◽  
pp. 45-51
Author(s):  
Diana N. Ionescu ◽  
Muammar Arida ◽  
Drazen M. Jukic

Abstract Context.—Metastatic basal cell carcinoma (BCC) is relatively rare and is seldom considered a complication in the routine treatment and follow-up of patients with BCC. Although multiple studies have tried to distinguish aggressive from nonaggressive BCCs, to our knowledge, no consistent clinical, histopathologic, or immunohistochemical features have yet been reported. Objective.—To report 4 cases of metastatic BCCs and to evaluate these in addition to known nonmetastatic BCCs with specific immunostains in an attempt to find distinct morphologic or immunohistochemical patterns that could be helpful in identifying aggressive BCCs. Design.—We reviewed 4 cases of metastatic BCCs and recorded the clinical and morphologic findings. We then searched our archives for 14 cases of BCC that followed the usual nonaggressive course. We evaluated these 18 cases with immunohistochemical stains for Ki-67, p53, and bcl-2. Results.—In metastasizing BCC, Ki-67 staining was slightly higher in metastatic sites than in primary sites (average 63% and 51%, respectively). p53 was expressed in 3 of 4 primary sites and 2 of 4 metastatic sites. Bcl-2 was positive in both primary and metastatic sites in 3 of 4 cases. In the 14 cases of nonaggressive BCC, staining for Ki-67 averaged 38%, p53 was positive in 11 cases, and Bcl-2 staining was noted in 13 cases. Conclusions.—Overall, in the small sample that we evaluated, the immunohistochemical markers for Ki-67, p53, and Bcl-2 did not distinguish between metastatic and nonaggressive BCCs.


2018 ◽  
Vol 58 (2) ◽  
pp. e30-e32 ◽  
Author(s):  
Paola Pasquali ◽  
Gonzalo Segurado-Miravalles ◽  
Azael Freites-Martínez ◽  
Salvador González-Rodriguez

2018 ◽  
Vol 2018 ◽  
pp. 1-8
Author(s):  
P. Santander ◽  
E. M. C. Schwaibold ◽  
F. Bremmer ◽  
S. Batschkus ◽  
P. Kauffmann

Background. We report a case of multiple keratocysts first diagnosed in an 8-year-old boy. Case report. The incidental radiographic finding of a cystic lesion in an 8-year-old boy led to the surgical enucleation and further diagnosis of a keratocyst associated with a tooth crown. In the course of dental maturation from deciduous to permanent teeth, the boy presented new lesions, always associated with the crowns of teeth. Gorlin-Goltz (nevoid basal-cell carcinoma) syndrome was suspected, and the genetic analysis detected a previously undescribed germline variant in the PTCH1 gene. Treatment. This included a surgical removal of the cystic lesions, as well as the affected teeth. Follow-up. Due to the high recurrence rate of the keratocysts, frequent radiological checks were performed over a 5-year period.


Author(s):  
Siswanto Wahab ◽  
Khairuddin Djawad

Basal cell carcinoma (BCC) is the most common type of nonmelanoma skin cancer (NMSC). It grows slowly and very rarely metastasizes but can cause substantial morbidity due to its tendency to relapse and locally invasive nature, especially when located on the face. Excision surgery is still the gold standard treatment for primary BCC and is usually followed by reconstruction procedure. Skin flap techniques vary widely, one of which is flap advancement technique. The main benefit of flap advancement technique is the ability to hide the excision line, thus resulting in an aesthetically sound outcome. We report a case of 72-year-old female with hyperpigmented plaque brownish lump on the left lateral cheek. A diagnosis of igmented basal cell carcinoma had been confirmed through histopathological examination. The patient was treated with wide excision surgery and the defect was closed by multiple advancement flaps. Follow-up after three months showed excellent cosmetic and functional outcome.


2002 ◽  
Vol 77 (6) ◽  
pp. 693-698 ◽  
Author(s):  
Cyro Festa Neto

BACKGROUND: Topical treatment with 5% imiquimod cream has been demonstrated to be effective in patients with basal cell carcinoma. OBJECTIVES: In the present study, efficacy and tolerability of this treatment was analyzed in 10 patients with 13 different types of superficial and nodular basal cell carcinomas. METHODS: Imiquimod cream was applied daily for a mean period of 23 days. RESULTS AND CONCLUSIONS: All patients responded favorably to the drug with healing of the lesions. No recurrence was observed during two to three months of follow up.


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