Basal cell nevus syndrome: an update on clinical findings

A man in his early 60s with myotonic dystrophy type 1 (DM1) and an extensive history of non-melanoma skin cancer presented with multiple pearly, erythematous papules on his face, head, trunk and extremities, clinically consistent with basal cell carcinoma (BCC). Due to the numerous BCC and history of multiple and early-onset BCC, examination was concerning for a hereditary BCC syndrome. Subsequent histopathology confirmed BCC. Genetic testing was negative for basal cell nevus syndrome and clinical findings were inconsistent with other known hereditary BCC syndromes. There have been reports of an association between DM1 and BCC, however, it is not well known among clinicians. We hope to raise awareness among clinicians about this association.

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Patient Age May Indicate Basal Cell Nevus Syndrome

Skin & Allergy News ◽

10.1016/s0037-6337(06)71526-1 ◽

2006 ◽

Vol 37 (9) ◽

pp. 39

Author(s):

Diana Mahoney

Keyword(s):

Basal Cell ◽

Patient Age ◽

Basal Cell Nevus Syndrome ◽

Patient Âgé

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Novel Drug May Limit Basal Cell Nevus Syndrome

Internal Medicine News ◽

10.1016/s1097-8690(11)70178-0 ◽

2011 ◽

Vol 44 (4) ◽

pp. 34

Author(s):

BRUCE JANCIN

Keyword(s):

Basal Cell ◽

Basal Cell Nevus Syndrome ◽

Novel Drug

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A novel phenotype with features of basal cell nevus syndrome and basaloid follicular hamartoma syndrome

Journal of the American Academy of Dermatology ◽

10.1016/j.jaad.2010.12.010 ◽

2011 ◽

Vol 65 (1) ◽

pp. e17-e19 ◽

Cited By ~ 9

Author(s):

Weston T. Waxweiler ◽

Chris G. Adigun ◽

Pam Groben ◽

David S. Rubenstein

Keyword(s):

Basal Cell ◽

Basal Cell Nevus Syndrome

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Destructive Basal Cell Carcinoma in a Patient with Basal Cell Nevus Syndrome and an Interstitial Deletion of Chromosome 9q22

Dermatologic Surgery ◽

10.1111/j.1524-4725.2009.01373.x ◽

2009 ◽

Vol 35 (12) ◽

pp. 2051-2053 ◽

Cited By ~ 1

Author(s):

Klara Mosterd ◽

Anja Sommer ◽

Arienne van Marion ◽

Martin Lacko ◽

Jos Herbergs ◽

...

Keyword(s):

Basal Cell Carcinoma ◽

Cell Carcinoma ◽

Basal Cell ◽

Interstitial Deletion ◽

Basal Cell Nevus Syndrome ◽

Chromosome 9Q22

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Multidisciplinary Approach for Treating Malocclusion of Patient With Basal Cell Nevus Syndrome: A Case Report

The Cleft Palate-Craniofacial Journal ◽

10.1177/1055665619866562 ◽

2019 ◽

Vol 57 (2) ◽

pp. 255-262

Author(s):

Sayuri Inoue ◽

Hiroshi Kurosaka ◽

Donghoon Lee ◽

Takashi Yamashiro

Keyword(s):

Basal Cell ◽

Orthodontic Treatment ◽

Cleft Lip ◽

Multidisciplinary Approach ◽

Genetic Disorder ◽

Dental Arch ◽

Class Iii ◽

Basal Cell Nevus Syndrome ◽

Skeletal Class ◽

Craniofacial Features

Basal cell nevus syndrome (BCNS) is a rare genetic disorder that can be caused by mutation of multiple genes, including PTCH1, PTCH2, and SUFU, in an autosomal dominant manner. The symptoms include some craniofacial features such as keratocystic odontogenic tumors (KCOTs), macrocephaly, and cleft lip and/or palate. Although comprehensive orthodontic treatment is frequently required for some of these craniofacial deformities, there are few reports that show the outcomes of comprehensive orthodontic treatment. Here, we report a case of BCNS with multiple KCOTs, macrocephaly, skeletal class III malocclusion, asymmetric dental arch, and mandibular crowding, which was successfully treated with comprehensive orthodontic treatment.

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Analysis of the grade of esophagitis, chromendoscopical and histological findings of esophagus in patients with gastroesophageal reflux disease before and after the therapy

Vojnosanitetski pregled ◽

10.2298/vsp1012991b ◽

2010 ◽

Vol 67 (12) ◽

pp. 991-997

Author(s):

Vesna Brzacki ◽

Aleksandar Nagorni ◽

Dragan Mihailovic ◽

Suzana Raicevic-Sibinovic ◽

Bojan Mladenovic

Keyword(s):

Helicobacter Pylori ◽

Gastroesophageal Reflux ◽

Basal Cell ◽

Reflux Disease ◽

Eradication Therapy ◽

Clinical Findings ◽

Histological Findings ◽

Cell Hyperplasia ◽

Basal Cell Hyperplasia ◽

Before And After

Background/Aim. The symptoms of gastroesophageal reflux desease (GERD) are among the most common complaints for which patients are indicated for visiting gastroenterologist. It occurs as a result of the effect made by gastric reflux contents that moves into the esophagus. The prevalence of all forms of GERD is 40%. The aim of this study was to analyze the grade of esophagitis, chromendoscopical and histological findings of esophagus in patients with GERD before and after the therapy. Methods. A prospective study included 90 patients with symptoms of GERD, divided into 2 groups depending on whether they had endoscopic signs of gastroezophageal reflux (group ERD), or not (group NERD). All the patients had esophagogastroduodenoscopy, chromoendoscopy staining, test for Helicobacter pylori and histological findings of the esophagus. In the patients with Helicobacter pylori infection eradication therapy was done. Results. Esophagitis-B level was present in most of the patients. Among the groups, roughly the same number responded to positive findings on chromoendoscopy. After the therapy, chromoendoscopy was significantly negative in both groups of the patients comparing to chromoendoscopy before the therapy (p = 0.00001). Multiplication and elongation of papilla, basal cell hyperplasia, vascular dilatation, increasing of mitotic activity and the presence of polymorphonuclear leukocyte cells were statistically more frequent histological findings in the group ERB compared to the group NERB. After the therapy, the patients in both groups had statistically less histological findings of appropriate esophageal parameters. Conclusion. Chromoendoscopy combined with the standard endoscopy increases the sensitivity and specificity for reflux disease. Histology in the reflux disease is associated with endoscopic and clinical findings so that the localization of taking biopsies and histological criteria of pathohistological changes must be clearly defined. Multiplication and elongation of papilla, basal cell hyperplasia and the presence of polymorphonuclear leukocytes are the most relevant criteria in the diagnosis NERD.

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