Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome) in Children

Abstract

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.

An Easily Missed But Life-Threatening Diagnosis: A Case Report of Gorlin Syndrome

“…On the surface there are recognized multiple (up to 10) black-grayish lesions, up to 0. Diagnosis of Gorlin syndrome requires, the presence of 2 major criteria or 1 major and 2 minor criteria or 1 major criterion and molecular confirmation [16]. Major criteria include >2 BCCs or 1 BCC before the age of 20, any odontogenic keratocyst proven by histology, at least 3 palmar or plantar cysts, calcified falx cerebri, and family history of the syndrome.…”

“…Genetic testing was advised by the oncology consult, but the patient was unable to proceed with it due to the cost of such a procedure. Although genetic testing is the criterion standard method for diagnosis of the syndrome [16], PTCH1 genetic testing is not a routine test, and it is only used in particular circumstances. Specifically, it is performed when confirmation of the diagnosis is needed in patients who do not meet the diagnostic criteria, in patients at risk who have family history but do not meet the criteria, and for prenatal testing when a mutation in the family is known [18].…”

“…Dermoscopy is considered to be an essential method for the differential diagnosis of skin lesions and is also helpful when selecting the area to be biopsied (Figure 3). This is important because NBCCS affects young people; therefore, dermoscopy not only restricts the number of biopsies but also prevents unnecessary surgical procedures [16].…”

“…Treatment options for BCCs include standard surgical excision, Mohs surgery, electrocoagulation, cryotherapy, laser ablation, photodynamic therapy, and topical chemotherapy [16,20]. Surgical excision -the criterion standard method of treatment [21] -is the most common method used for the removal of BCCs, especially when the lesions are restricted in number or are characterized by rapid growth [22].…”