A Rare Case of Nevoid Basal Cell Carcinoma Syndrome

Vartika Ravi Ratan, Arun C. Inamadar, Keshavmurthy A. Adya

Shri B.M.Patil Medical College Hospital and Research Centre,
BLDE (Deemed to be University)Vijayapur, Karnataka, India
Introduction: Nevoid basal cell carcinoma syndrome (NBCCS) aka Gorlin syndrome, is an autosomal dominant condition
with identification of mutation in the PATCHED (PTCH1) gene and showing complete penetrance and variable
expressivity with BCCs ranging from a few to several thousand along with other cutaneous and systemic features. Here we
describe one such case of Nevoid basal cell carcinoma syndrome.
Case Report: A 50y/F presented with progressive pigmented lesions over face and back since 3 months. Family history
was negative. Clinical examination revealed pigmented plaques and a large nodulo-ulcerative lesion on the lateral margin
of the left eye. Palmar pitting was also present. Xray skull (AP & lateral view) showed calcification of falx cerebri.
Dermoscopy showed maple-leaf like pattern, spoke-wheel-like structures, arborizing vessels and whitish veil.

Fig.1 Fig.2 Fig.3

Fig.1: Pigmented & Nodulo-ulcerative BCC Fig.2: Multiple pigmented BCCs Fig.3: Pitting over palms

Fig.5
Fig.6
Fig.4 Fig.5: Dermoscopic view of BCC Fig.6: HP image showing typical features
Fig.4: Xray skull showing calcification of falx cerebri showing ulceration of BCC
Discussion: Criteria for NBCCS includes presence of two major criteria or one major and two minor criteria:
• Major: >2 BCCs, or 1 diagnosed under 20 years ▪ Histology proven Odontogenic keratocysts ▪ ≥3 palmar/ plantar pits ▪
Ectopic calcification (lamellar or early falx) ▪ Bifid, fused or markedly splayed ribs ▪ Family history of NBCCS
• Minor criteria ▪ Macrocephaly ▪ Bridging of the sella turcica, vertebral anomalies such as hemivertebrae, fusion or
elongation of the vertebral bodies, modeling defects of the hands and feet ▪Cleft lip or palate, polydactyly ▪ Cardiac or
ovarian fibroma ▪ Medulloblastoma ▪ Other skeletal abnormalities ▪ Eye anomaly: cataract, coloboma, microphtalmia ▪
PTCH mutation
• Conclusion: This case highlights the importance of histopathological examination in all conditions of linear epidermal nevi routinely to
look for associated epidermolytic hyperkeratosis and the clinical implications associated with such a finding, especially in widespread
lesions.