Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome)

Kiran, N K; Raj, T N Tilak; Mukunda, K S; Reddy, Vahini

doi:10.4103/0976-237x.107459

Cited by 20 publications

(10 citation statements)

References 18 publications

(24 reference statements)

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“…Reports of NBCCS prevalence vary from 1/57,000 to 1/256,000, but 1/60,000 is generally accepted[ 20 , 21 ]. The prevalence in Korea is estimated to be very low[ 5 ].…”

Section: Discussionmentioning

confidence: 99%

Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Review of Korean Cases

Jung

Shin

Baek

et al. 2014

Maxillofacial Plastic and Reconstructive Surgery

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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.

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“…Reports of NBCCS prevalence vary from 1/57,000 to 1/256,000, but 1/60,000 is generally accepted[ 20 , 21 ]. The prevalence in Korea is estimated to be very low[ 5 ].…”

Section: Discussionmentioning

confidence: 99%

Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Review of Korean Cases

Jung

Shin

Baek

et al. 2014

Maxillofacial Plastic and Reconstructive Surgery

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“…Common features include odontogenic keratocysts, jaw cysts (usually occurring in the maxilla), ovarian fibromas, fibrosarcoma, strabismus, and congenital blindness. An unusual finding of combined hamartoma of the retina and retinal pigment epithelium also has been reported [14].…”

Section: Nevoid Basal Cell Carcinoma Syndromementioning

confidence: 87%

“…Palmoplantar pits are 2-to 3-mm erythematous pits occurring on the palms and soles. Other cutaneous findings are epidermoid cysts and milia [14].…”

Section: Nevoid Basal Cell Carcinoma Syndromementioning

confidence: 99%

Dermatologic Manifestations of Neurologic Disease

Türsen¹,

Türsen²

2013

jtad

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Background: Many diseases present with both neurologic and dermatologic manifestations. Eight such clinical cases are presented, along with clinical photographs of the skin lesions, in the format of a self-evaluation. Each case is followed by a discussion and a brief review of the characteristic cutaneous and neurologic findings. The intent is to demonstrate classic dermatologic manifestations of diseases seen by neurologists.

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“…A summary of the diagnostic features of syndrome in these patients is presented in Table 4 . [ 3 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 ] The frequency of findings in these patients in Indian literature combined with 5 patients in our case series was then compared with studies in different parts of the world and is presented in Table 5 . [ 43 44 45 46 47 48 49 50 51 ]…”

Section: Methodsmentioning

confidence: 99%

Gorlin–Goltz syndrome: A case series of 5 patients in North Indian population with comparative analysis of literature

2015

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Objective:In Indian scenario, Gorlin–Goltz syndrome (nevoid basal cell carcinoma syndrome [NBCCS]) has been rarely reported. The clinical, radiological, and histopathological findings and major and minor criteria in five cases of NBCCS in North Indian population have been presented along with a discussion of the role of gene mutation analysis in early diagnosis of syndrome.Materials and Methods:The diagnostic findings of Gorlin–Goltz syndrome in 5 patients were compared with other reports in Indian population and with reports of this syndrome in other parts of the world.Results:The most common features seen were keratocystic odontogenic tumors (100%), calcifications of falx cerebri (60%), palmar-plantar pits (80%), rib anomalies (80%), macroencephaly (60%), ocular hypertelorism (80%), and frontal bossing (60%) in our series. Retained deciduous teeth seen in 80% patients whose association has not been previously reported has been presented. None of our patients had basal cell carcinoma, syndactyly or polydactyly, pectus deformity, bridging of sella turcica, pigmented nevi, or family history of this syndrome in contrast to such findings in other Indian patients. Medulloblastoma has not been reported in any Indian patient so far compared to this finding in other studies conducted worldwide.Conclusions:Combining the features of 48 patients in 38 cases of NBCCS being published in Indian literature with five cases of our series and on comparison with other studies in the world, a wide disparity in different ethnic groups and a wide variation in presentation of syndrome within the same population is suggested.

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Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome)

Cited by 20 publications

References 18 publications

Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Review of Korean Cases

Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Review of Korean Cases

Dermatologic Manifestations of Neurologic Disease

Gorlin–Goltz syndrome: A case series of 5 patients in North Indian population with comparative analysis of literature

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