Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Review of Korean Cases / 대한악안면성형재건외과학회지
Maxillofacial Plastic and Reconstructive Surgery
;
: 292-297, 2014.
Article
in English
| WPRIM
| ID: wpr-227281
ABSTRACT
Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal genetic disease caused by a PTCH mutation. The disease is characterized by multiple basal cell carcinomas of the skin, multiple keratocystic odontogenic tumors (KCOTs) in the jaw, palmar and/or plantar pits, bifid ribs, ectopic calcification of the falx cerebri, and skeletal abnormalities. Early diagnosis is difficult in many cases because there may be a number of systemic symptoms. The purpose of this study is to report the case of a 12-year-old girl who was hospitalized with multiple KCOTs that occurred in the upper and lower jaws. Through characteristic clinical symptoms and radiologic findings, she was finally diagnosed as having NBCCS. This study also aims to organize the symptoms often observed in Korea using previously published case reports to provide useful information for the early diagnosis of NBCCS.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Ribs
/
Skin
/
Carcinoma, Basal Cell
/
Basal Cell Nevus Syndrome
/
Odontogenic Cysts
/
Odontogenic Tumors
/
Early Diagnosis
/
Jaw
/
Korea
Type of study:
Diagnostic study
/
Screening study
Limits:
Child
/
Female
/
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Maxillofacial Plastic and Reconstructive Surgery
Year:
2014
Type:
Article
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