Nevoid Basal Cell Carcinoma Syndrome: Our Experience in a Pediatric Hospital

Abstract

Nevoid basal cell carcinoma (BCC) syndrome, or Gorlin syndrome, is a rare autosomal dominant disorder associated with mutations in the patched 1 gene, PTCH1. It is characterized by the presence of multiple BCCs in association with disorders affecting the bones, the skin, the eyes, and the nervous system. We describe 6 cases of nevoid BCC syndrome evaluated in our department. Palmoplantar pitting was observed in all 6 patients, multiple BCCs in 5 patients (83%), skeletal anomalies in 3 patients (50%), and odontogenic keratocysts in 1 patient (17%). We would like to stress the importance of early diagnosis and treatment in nevoid BCC syndrome and the need for continuous, long-term follow-up by a multidisciplinary team.

Gorlin-Goltz syndrome

“…The classic treatment for basal cell carcinomas is surgical excision, but CO 2 laser, electrocauterization, cryotherapy, and photodynamic therapy may be used when too many lesions are present and when recurrence occurs. In addition, imiquimod cream 5%, topical 5-fluorouracil and vismodegib in locally-advanced and metastatic forms are other treatment options (9,10). We initiated imiquimod cream 5% three days a week in our patient, observed regression in the lesions after one month, and still continue this treatment.…”

Photodynamic therapy for dermatologic conditions in the pediatric population: a literature review

“…PDT is a well‐recognized treatment for adults with multiple BCCs, providing excellent clinical and cosmetic outcomes, with a cure rate ranging from 78% to 98% . Children with BCNS have been successfully treated with PDT .…”

Rare Skin Tumours in Childhood: Review

“…Vakalarda genellikle predispozisyon yaratan kseroderma pigmentozum, nevoid bazal hüc-reli karsinom sendromu (Gorlin sendromu) gibi nedenler yer almaktadır (Tablo 2). 16,17 Nevüs sebaseus da nadir de olsa predispozisyon yaratan diğer bir nedendir. 18 Meksika'da yapılan bir araştırmanın sonucuna göre BCC pediatrik yaş grubunda tüm tü-mörlerin %0,24'ünü ve deri tümörlerinin %13'ünü oluşturmaktadır.…”

“…Çocukların çoğu saplı fibroepitelyoma benzeri BCC lezyonları ile başvurur. 16,17 BCC için risk faktörleri; güneş yanığı, UV maruziyeti, renkli göz-açık renk saç rengine sahip olmak, iyonize radyasyon, immünsup-resyon, arsenik gibi kimyasal madde maruziyetinin olmasıdır. Tümörün gelişmesi için UV maruziyetinin dekadlar boyunca olması gerekmektedir.…”