1.A Case of Basal Cell Nevus Syndrome Improved with Oral COX-2 Inhibitor.
Seung Dogh YEOM ; Jonghyuk MOON ; Hyesoo KO ; Si Hyub LEE ; Jeonghyun SHIN ; Gwang Seong CHOI ; Jiwon BYUN
Korean Journal of Dermatology 2016;54(8):674-676
No abstract available.
Basal Cell Nevus Syndrome*
;
Carcinoma, Basal Cell
3.Basal cell nevus syndrome in a 56-year old Filipino female: A case report
Kathleen May V. Eusebio-Alpapara ; Cindy Pearl Sotalbo ; Cynthia Ciriaco-Tan
Journal of the Philippine Dermatological Society 2019;28(1):42-50
Introduction:
Basal cell nevus syndrome (BCNS) (Gorlin-Goltz syndrome or Nevoid basal cell carcinoma syndrome) is a rare
inherited multisystem and tumor-predisposing disorder caused by the patched tumor suppressor gene mutations and
suppressor of fused gene. Its diagnosis follows a set of criteria based on specific cutaneous features and radiologic findings.
Although an autosomal dominant disorder with a high degree of penetrance, BCNS has variable expression making its
diagnosis difficult. The limited epidemiologic data among Asians especially in the Philippines hamper early detection or
cause frequent misdiagnosis of the condition.
Case report:
A 56-year-old Filipino female with Fitzpatrick skin type V presented with early onset multiple basal cell
carcinomas and bilateral palmoplantar pits. Radiologic investigation reveals odontogenic keratocyst, calcification of the
falx cerebri, bridging of the sella turcica, bifid/splayed ribs and vertebral anomalies. The patient exhibits coarse facial
features and bilateral cataracts. Cranial computed tomography scan shows cerebrocerebellar atrophy with ventricular
dilatation. Management included wide excision of the nodular basal cell carcinomas (BCC), application of 5-flourouracil
cream on the superficial BCC and electrodessication and curettage of the smaller lesions. Oral acitretin was also prescribed.
Conclusion
This is a case that highlights the approach to diagnosis, clinical features and management of BCNS in a Filipino
patient. Since various phenotypic presentations may exist among dark-skinned individuals, early diagnosis poses a challenge
among physicians. Epidemiologic and prevalence studies among Filipinos may be done to aid in the diagnosis and early
management of this rare genodermatosis.
Basal Cell Nevus Syndrome
;
Carcinoma, Basal Cell
4.Recurrent odontogenic keratocysts in basal cell nevus syndrome: Report of a case.
Byung Do LEE ; Jin Hoa KIM ; Dong Hoon CHOI ; Kwang Soo KOH ; Sang Rae LEE
Korean Journal of Oral and Maxillofacial Radiology 2004;34(4):203-207
Basal cell nevus syndrome (BCNS) is principally characterized by cutaneous basal cell carcinomas, multiple odontogenic keratocysts and skeletal abnormalities. Our patient represented several characteristics of BCNS, such as, multiple odontogenic keratocysts, facial nevus, calcification of falx cerebri, parietal bossing and mental retardation. The cyst on posterior mandible showed recurrent and newly developing tendency.
Basal Cell Nevus Syndrome*
;
Carcinoma, Basal Cell
;
Humans
;
Intellectual Disability
;
Mandible
;
Nevus
;
Odontogenic Cysts*
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Rabeprazole
5.A Case of Basal Cell Nevus Syndrome.
Young Jun SON ; Han Gil JO ; Young Ok KIM ; Young Jong WOO
Journal of the Korean Child Neurology Society 2010;18(1):147-152
Basal cell nevus syndrome(BCNS) is a rare autosomal dominant disorder characterized by variable developmental anomalies and predisposition to cancers. The main manifestations include multiple basal cell carcinomas of skins, odontogenic keratocysts, facial dysmorphism, skeletal abnormalities including scoliosis and bifid ribs, palmar and plantar pits, calcification of the falx cerebri, and biparietal frontal bossing. We experienced a case of 12-year-old girl with the clinical features of basal cell nevus syndrome.
Basal Cell Nevus Syndrome
;
Carcinoma, Basal Cell
;
Child
;
Humans
;
Nevus
;
Odontogenic Cysts
;
Ribs
;
Scoliosis
;
Skin
6.Two Cases of Nevoid Basal Cell CarcinomaSyndrome in One Family.
Dong Jin RYU ; Yeon Sook KWON ; Mi Ryung ROH ; Min Geol LEE
Annals of Dermatology 2008;20(4):221-225
The nevoid basal cell carcinoma syndrome, or Gorlin-Goltz syndrome, is an autosomal dominant multiple system disorder with high penetrance and variable expressions, although it can also arise spontaneously. The diagnostic criteria for nevoid basal cell carcinoma syndrome include multiple basal cell carcinomas, palmoplantar pits, multiple odontogenic keratocysts, skeletal anomalies, positive family history, ectopic calcification and neurological anomalies. We report a brother and sister who were both diagnosed with nevoid basal cell carcinoma syndrome.
Basal Cell Nevus Syndrome
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Carcinoma, Basal Cell
;
Humans
;
Odontogenic Cysts
;
Penetrance
;
Siblings
7.Two cases of nevoid basal cell carcinoma syndrome.
Gwang Yeol JOH ; Ki Ho KIM ; Jong Taik NAM ; Young Soo KIM ; Bong Ku LEE
Korean Journal of Dermatology 1992;30(6):951-957
Nevoid basal cell carcinoma syndrome is inherited as an autcsonal dominant trait with a high degree of penetrane and variable expressivity. The mair features are basal cell carcinoma. jaw cysts, skeletal anornalies, ectopic calcifications and palmoplantar pits. We report varous clinical ma.nifestations in brother and sister, wnich are jaw cyst,, bifid rib, shortened fourth metacarpals, ectopie calcification, palrnoplanar pits and basal cell carcinoma, Microscopically, histologic patterns of basal cell cacinomas are superficial, nodulocystic, keratotic, pigmented, adenoid and follicullar nevoid. Lange numbers of basal cell carcinomas were electrodessicated and curetted under general,nesthesia.
Adenoids
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Basal Cell Nevus Syndrome*
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Carcinoma, Basal Cell
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Humans
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Jaw Cysts
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Metacarpal Bones
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Ribs
;
Siblings
8.Basal cell nevus syndrome (gorlin syndrome) confirmed by PTCH mutations and deletions.
Hee Moon KIM ; Chul Hee LEE ; Sung Koo KIM ; Tae Jung SUNG
Korean Journal of Pediatrics 2007;50(8):789-793
Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder characterized by variable manifestations, including multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar pits, calcification of the falx cerebri, and biparietal frontal bossing. We report a case of a 9-year-old boy with the clinical features of basal cell nevus syndrome, in which a PTCH gene mutation was confirmed by DNA testing.
Basal Cell Nevus Syndrome*
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Carcinoma, Basal Cell
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Child
;
DNA
;
Humans
;
Jaw
;
Male
;
Odontogenic Cysts
;
Ribs
;
Scoliosis
9.A Case of Basal Cell Nevus Syndrome with Odontogenic Keratocyst.
Shin Hong PARK ; Hyo Yeol KIM ; Joon Ho KIM ; Sang Duk HONG
Korean Journal of Otolaryngology - Head and Neck Surgery 2007;50(6):552-555
Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a cancer predisposition syndrome characterized by multiple basal cell carcinomas and diverse developmental defects. Recently, we experienced a case of odontogenic keratocysts in a 13-year-old boy who was finally diagnosed as having nevoid basal cell carcinoma syndrome by genetic study. The purpose of this paper is to report odontogenic keratocyst as the first manifestation of nevoid basal cell carcinoma syndrome and to emphasize that one must consider this syndrome as a possible diagnosis in all cases of odontogenic keratocysts.
Adolescent
;
Basal Cell Nevus Syndrome*
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Carcinoma, Basal Cell
;
Diagnosis
;
Humans
;
Male
;
Odontogenic Cysts*
10.Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Literature Review.
Byung Kwon LEE ; Jae Soo LEE ; Dong Sik CHANG ; Kyung Yu PARK
Korean Journal of Otolaryngology - Head and Neck Surgery 2005;48(6):819-822
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin-Goltz syndrome, shows autosomal dominant pattern of inheritance with variable expressivity. The most important features are the occurrence of basal cell carcinoma and odontogenic keratosis. Recently, we experienced a case of nevoid basal cell carcinoma syndrome with multiple odontogenic keratocysts, basal cell carcinoma on cheek, cerebral calcification and palmar pits. We report this case with literature review.
Basal Cell Nevus Syndrome*
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Carcinoma, Basal Cell
;
Cheek
;
Keratosis
;
Odontogenic Cysts
;
Wills