Multiple basal cell carcinomas in Gorlin Syndrome treated with pulsed dye laser

Gorlin syndrome (Naevoid Basal Cell Carcinoma Syndrome) is a rare autosomal dominant syndrome caused by mutations in thePTCHgene with a birth incidence of approximately 1 in 19,000. Patients develop multiple basal cell carcinomas of the skin frequently in early life and also have a predisposition to additional malignancies such as medulloblastoma. Gorlin Syndrome patients also have developmental defects such as bifid ribs and other complications such as jaw keratocysts. We studied the incidence and frequency of basal cell carcinomas in 202 Gorlin syndrome patients from 62 families and compared this to their gender and mutation type. Our data suggests that the incidence of basal cell carcinomas is equal between males and females and the mutation type cannot be used to predict disease burden.

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Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome

Case Reports in Genetics ◽

10.1155/2019/9650184 ◽

2019 ◽

Vol 2019 ◽

pp. 1-5

Author(s):

Gustav Askaner ◽

Ulrikke Lei ◽

Birgitte Bertelsen ◽

Alessandro Venzo ◽

Karin Wadt

Keyword(s):

Basal Cell ◽

Regulatory Genes ◽

Tumour Suppressor ◽

Hedgehog Pathway ◽

Tumour Suppressor Genes ◽

Gorlin Syndrome ◽

Suppressor Genes ◽

Pathogenic Variants ◽

Basal Cell Carcinomas ◽

Multiple Basal Cell Carcinomas

Gorlin syndrome is mainly caused by pathogenic germline variants in the tumour suppressor genes PTCH1 and SUFU, both regulatory genes in the hedgehog pathway. However, the phenotypes of patients with PTCH1 and SUFU pathogenic variants seem to differ. We present a family with a frameshift variant in the SUFU gene c.954del, p.Asn319Thrfs∗42 leading to meningiomas and multiple basal cell-carcinomas.

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Faculty Opinions recommendation of The effect of 595 nm pulsed dye laser on superficial and nodular basal cell carcinomas.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1165457.628443 ◽

2009 ◽

Author(s):

Christopher Harmon

Keyword(s):

Basal Cell ◽

Dye Laser ◽

Pulsed Dye Laser ◽

Basal Cell Carcinomas

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The effect of 595 nm pulsed dye laser on superficial and nodular basal cell carcinomas

Lasers in Surgery and Medicine ◽

10.1002/lsm.20787 ◽

2009 ◽

Vol 41 (6) ◽

pp. 417-422 ◽

Cited By ~ 35

Author(s):

Sonali M. Shah ◽

Nellie Konnikov ◽

Lyn M. Duncan ◽

Zeina S. Tannous

Keyword(s):

Basal Cell ◽

Dye Laser ◽

Pulsed Dye Laser ◽

Basal Cell Carcinomas

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Single treatment of low-risk basal cell carcinomas with pulsed dye laser-mediated photodynamic therapy (PDL-PDT) compared with photodynamic therapy (PDT): A controlled, investigator-blinded, intra-individual prospective study

Photodiagnosis and Photodynamic Therapy ◽

10.1016/j.pdpdt.2016.08.003 ◽

2016 ◽

Vol 16 ◽

pp. 60-65 ◽

Cited By ~ 17

Author(s):

Antoanela Čarija ◽

Neira Puizina-Ivić ◽

Dubravka Vuković ◽

Lina Mirić Kovačević ◽

Vesna Čapkun

Keyword(s):

Photodynamic Therapy ◽

Prospective Study ◽

Basal Cell ◽

Dye Laser ◽

Low Risk ◽

Pulsed Dye Laser ◽

Single Treatment ◽

Basal Cell Carcinomas

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Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome) in Children

European Journal of Medical and Health Sciences ◽

10.24018/ejmed.2021.3.5.888 ◽

2021 ◽

Vol 3 (5) ◽

pp. 15-17

Author(s):

S. Binsheikhan ◽

S. Mittal ◽

M. Al Abadie

Keyword(s):

Basal Cell Carcinoma ◽

Cell Carcinoma ◽

Basal Cell ◽

Genetic Disorder ◽

Female Child ◽

Treatment Modalities ◽

Gorlin Syndrome ◽

Cutaneous Manifestations ◽

Basal Cell Carcinomas ◽

Multiple Basal Cell Carcinomas

Introduction: Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder characterised by development of multiple basal cell carcinomas (BCC) at a young age. Case report: A 7 year female child presented with MULTIPLE skin growths on the neck, face and upper chest for 3 years, with prominent forehead and mild non-scarring alopecia. She also had a history of medulloblastoma treated 3 years ago. There was no significant family history. Biopsy from one of the lesions showed basal cell carcinoma (BCC). Discussion: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder caused by mutations in the tumour suppressor patched 1 (PTCH-1) gene. Patients present with both cutaneous and extra-cutaneous manifestations. Multiple basal cell carcinomas (BCCs) are one of the most frequent cutaneous manifestations, occurring on both photo-exposed and non-exposed areas. The commonest extra-cutaneous tumours are medulloblastomas, which are often the first presentation of the disease. There are multiple but no established treatment modalities for the disease.

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