1.Unusual Neurological Presentation of Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome).
Manuela PENNISI ; Giuseppe LANZA ; Mariagiovanna CANTONE ; Carmelo SCHEPIS ; Raffaele FERRI ; Rita BARONE ; Rita BELLA
Journal of Clinical Neurology 2017;13(4):439-441
No abstract available.
Basal Cell Nevus Syndrome*
2.Tenacious tumors: Basal Cell Nevus Syndrome in a 50-year-old Filipina
Kariza Valerie L. De Vera ; Rogelio A. Balagat
Journal of the Philippine Medical Association 2024;102(2):71-76
Basal cell nevus syndrome is a rare
autosomal dominant disorder with a prevalence
of between 1in 60,000 to 1in 120,000. This disorder is
associated with a panoply of phenotypic
that includes developmental
anomalies and tumors particularly basal cell
carcinoma. The genetic abnormality in almost all
known cases is a mutation in the PATCHED] gene
which is essential for normal body and limb
patterning.?
abnormalities
We report a 50-year-old Filipina who
suffered from multiple recurrent pigmented
papules, plagues, nodules, and tumors on the face
with the first tumor appearing at age 20.
Basal Cell Nevus Syndrome
4.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
5.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
6.A case of nevoid basal cell carcinoma syndrome family.
Shang-hui ZHOU ; Li-li LI ; Xin-chun JIAN ; Can-hua JIANG
West China Journal of Stomatology 2008;26(1):109-111
Nevoid basal cell carcinoma syndrome is a rare autosomal dominant genetic disorder characterized by developmental abnormalities and tumorigenesis. In this paper, a case of nevoid basal cell carcinoma syndrome family was reported, and its incidence, pathogenesis, clinical features and methods of treatment were discussed by reviewing relevant literatures.
Basal Cell Nevus Syndrome
;
Humans
;
Male
7.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
8.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*
;
Rabeprazole
10.Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor.
Shih Wen HSU ; Chien yio LIN ; Chuang Wei WANG ; Wen Hung CHUNG ; Chih Hsun YANG ; Yao Yu CHANG
Annals of Dermatology 2018;30(5):597-601
We studied a family with Gorlin-Goltz syndrome. The novel mutations of our cases were located on the 21st exon of the PTCH1 gene (c.3450C>G). The father, who received a strategic 56-day vismodegib treatment for disease control, was the first patient with Gorlin syndrome treated with the hedgehog inhibitor in Taiwan. The lesions regressed gradually, with scar formation, and were subsequently removed via a wide excision. Further details are provided below.
Basal Cell Nevus Syndrome*
;
Cicatrix
;
Exons
;
Fathers
;
Hedgehogs
;
Humans
;
Taiwan