Clinical Finding and Management of 12 Orofacial Clefts Cases with Nevoid Basal Cell Carcinoma Syndrome

2017 ◽  
Vol 54 (3) ◽  
pp. 338-342 ◽  
Author(s):  
Lee Mui Lee ◽  
Lian Ma ◽  
Tie Jun Li
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Diagnostic Criteria ◽  
Basal Cell ◽  
Clinical Management ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Clinical Phenotype ◽  
Team Approach ◽  
Alveolar Bone Grafting

Objective To study the phenotype and overview the clinical management on Cleft Lip and/or Palate (CL/P) with Nevoid Basal Cell Carcinoma Syndrome (NBCCS) patients in Peking University School and Hospital of Stomatology. Design Case series study. Main Outcome Measures To describe the clinical phenotype of 12 CL/P with NBCCS patients who fulfilled the diagnostic criteria as well as to explore clinical management. Results Seven cases (7/12, 58.33%) were classified as bilateral complete cleft lip and palate (BCCLP). Two cases (2/12, 16.67%) were classified as unilateral complete cleft lip and palate (UCCLP). Three cases (1/12, 8.33%) were classified as unilateral complete cleft lip (UCCL), submucosa cleft uvula (SCU), and bifid uvula (BU), respectively. The ratio of male/female was 9/3. Keratocystic odontogenic tumors (KCOTs) were presented in all 12 cases. The most common site was the mandible region (12/12, 100%) followed by the maxilla region (7/12, 58.33%). The diagnostic age of 12 NBCCS with CL/P ranged from 11 to 42 years old (usually postponed to the occurring of KCOTs). The delayed diagnosis of NBCCS can be attributed to its complicated clinical manifestations. In some cases, the mutual effect between the surgical therapy of removing KCOTs and alveolar bone grafting made the team approach (TA) of CL/P more complicated. Conclusion CL/P may become important clinical phenotype in NBCCS. The type of cleft varied, with bilateral cleft lip and palate comprising above 50%. Larger sample sizes are needed to study and confirm this result. KCOTs, as one of the most common clinical feature of NBCCS, make the diagnosis delayed and the TA more difficult because of the occurring time and site. This compels us to improve the diagnostic criteria to make an early diagnosis and explore a better therapeutic protocol for CL/P.

scholarly journals Contributions of PTCH Gene Variants to Isolated Cleft Lip and Palate

2006 ◽  
Vol 43 (1) ◽  
pp. 21-29 ◽  
Author(s):  
M. A. Mansilla ◽  
M. E. Cooper ◽  
T. Goldstein ◽  
E. E. Castilla ◽  
J. S. Lopez Camelo ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Missense Mutations ◽  
Nucleotide Polymorphisms ◽  
Normal Variants ◽  
Specific Sequence ◽  
Orofacial Clefting

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.

scholarly journals Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations

2009 ◽  
Vol 54 (7) ◽  
pp. 398-402 ◽  
Author(s):  
Ryo Sasaki ◽  
Kayoko Saito ◽  
Yorikatsu Watanabe ◽  
Yoshinaga Takayama ◽  
Katsunori Fujii ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Gene Mutations ◽  
The Novel

Basal Cell Carcinoma Arising in a Cleft Lip Repair Scar

2001 ◽  
Vol 27 (2) ◽  
pp. 195-197 ◽  
Author(s):  
Mandy Warthan Wright ◽  
Rebecca A. McCarthy ◽  
Erica Bujol Kelly ◽  
Steven T. Wright ◽  
Richard F. Wagner
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Cleft Lip ◽  
Cleft Lip Repair

scholarly journals GEJALA KLINIS SEBAGAI PREDIKTOR PADA KARSINOMA SEL BASAL

Biomedika ◽  
2012 ◽  
Vol 5 (1) ◽  
Author(s):  
Ratih Pramuningtyas ◽  
Prasetyadi Mawardi
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Diagnostic Criteria ◽  
Clinical Diagnosis ◽  
Basal Cell ◽  
Histopathological Examination ◽  
Clinical Criteria ◽  
Clinical Diagnostic ◽  
Skin Cancers ◽  
Clinical Diagnostic Criteria

Basal Cell Carcinoma (BCC) incidence is 75% of all skin cancers. BCC rarely causing mortality, but morbidity is high. Clinical diagnostic is the early detection of BCC suspicion, therefore, we required specific criteria that help to establish the clinical diagnosis. The objective of this study was to know the clinical sign as a predictor of basal cell carcinoma. Ten patients with skin tumors who came to dermatovenereological department of Dr. Moewardi hospital were included in this study. Clinical diagnosis using clinical criteria from keratinocyte carcinoma in A Cancer Journal For Clinicians in 2011 (Teleangiectasion, raise border, erythematous with bleeding, pigmentation, translucent appearance, and scarlike appearance) was used as reference of clinical diagnostic criteria. Histopathological examination was performed as a gold standard. All 10 subjects had histopathological finding consistent to BCC. The clinical examination like pigmentation were found in all subjects while teleangiectasia, raise border, erythema with bleeding were found on 9 subject. Translucent appearance was found on 6 subjects. While scarlike appearance was absent in all subjects. The criteria from keratinocyte carcinoma in A Cancer Journal For Clinicians in 2011 can be used to diagnosed BCC clinicallyKeywords : Basal cell carcinoma, Clinical Diagnostic Criteria

scholarly journals Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Nina B. Gold ◽  
Ian M. Campbell ◽  
Sarah E. Sheppard ◽  
Wen-Hann Tan
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Diagnostic Criteria ◽  
Basal Cell ◽  
Early Onset ◽  
Genetic Disorders ◽  
Statistical Optimization ◽  
Phenotype Ontology ◽  
Bayes Classifier ◽  
Human Phenotype

AbstractNevoid basal cell carcinoma syndrome (NBCCS) is a tumor predisposition condition, the cardinal features of which emerge in adolescence or adulthood. Using statistical optimization, this study proposes NBCCS criteria with improved sensitivity in children less than 18 years of age. Earlier detection may lead to improved surveillance and prevention of sequelae. A survey eliciting medical history was completed by, or on behalf of, individuals with NBCCS. Based on these findings, criteria for suspicion of NBCCS in children were suggested using information from a Bernoulli naïve Bayes classifier relying on the human phenotype ontology. The sensitivity and specificity of the existing and proposed diagnostic criteria were also assessed. Participants (n = 48) reported their first signs of NBCCS appeared at a median age of 8 months, but by our retrospective analysis, they did not fulfill the current diagnostic criteria until a median age of 7 years. This study delineates the early-onset features of NBCCS and proposes criteria that should prompt consideration of NBCCS. Additionally, we demonstrate a method for quantitatively assessing the utility of diagnostic criteria for genetic disorders.

Basal Cell Carcinoma Arising in a Cleft Lip Repair Scar

2001 ◽  
Vol 27 (2) ◽  
pp. 195-197
Author(s):  
MANDY WARTHAN WRIGHT ◽  
REBECCA A. MCCARTHY ◽  
ERICA BUJOL KELLY ◽  
STEVEN T. WRIGHT ◽  
RICHARD F. WAGNER
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Cleft Lip ◽  
Cleft Lip Repair

Ultrastructure of Mouse Basal Cell Carcinoma Exhibiting Sebaceous Differentiation

1980 ◽  
Vol 38 ◽  
pp. 738-739
Author(s):  
Victoria L. Wade ◽  
Winslow G. Sheldon ◽  
James W. Townsend ◽  
William Allaben
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Topical Application ◽  
Basal Cell ◽  
Sebaceous Gland ◽  
Rats And Mice ◽  
Mixed Tumors

Sebaceous gland tumors and other tumors exhibiting sebaceous differentiation have been described in humans (1,2,3). Tumors of the sebaceous gland can be induced in rats and mice following topical application of carcinogens (4), but spontaneous mixed tumors of basal cell origin rarely occur in mice.

Basal cell carcinoma of the nail bed in a Korean woman

2000 ◽  
Vol 39 (5) ◽  
pp. 397-398 ◽  
Author(s):  
Hyoung-Joo Kim ◽  
Youn-Soo Kim ◽  
Ki-Beom Suhr ◽  
Tae-Young Yoon ◽  
Jeung-Hoon Lee ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Korean Woman ◽  
Nail Bed
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