Multiple Basal Cell Carcinomas in an Adolescent with an MLPA-Detected PTCH1-Region Deletion and a Gorlin-Goltz Phenotype

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome or basal cell naevus syndrome, is a rare hereditary cancer-predisposition disorder most often caused by disruption of the Hedgehog signaling pathway, particularly alterations of PTCH1. Classical disease is characterized by multiple or early-onset basal cell carcinomas, odontogenic keratocysts, palmoplantar pits, skeletal anomalies and intracranial calcifications. Deletions involving chromosome region 9q22.3 may create an overlapping but broader phenotype because the deleted interval may include PTCH1 together with neighboring genes.

Hereby we report a 15-year-old female patient with developmental disability, including a specific speech articulation disorder, who presented with multiple facial erosions, scars, milia, papulo-nodular lesions and palmar pitting. Dermoscopy demonstrated arborizing vessels, blue-gray ovoid nests, brown dots, ulceration, white scales and shiny white perpendicular lines. Surgical excision of selected lesions was performed, and histopathology confirmed basal cell carcinoma in three specimens, reported as carcinoma basocellulare. Additional findings included a nasal-root dermoid cyst excised in early childhood, strabismus, conductive hearing loss, kyphoscoliosis and a kinked aorta. Multiplex ligation-dependent probe amplification (MLPA) using the SALSA MLPA Probemix P245-A2 Microdeletion Syndromes-1 (MRC-Holland, Amsterdam, The Netherlands) demonstrated a deletion involving the PTCH1 region at chromosome 9q22.3.

This case is highly suggestive of a PTCH1-region deletion presenting with a Gorlin-Goltz phenotype, with additional extracutaneous findings that may reflect involvement of the wider 9q22.3 region; because MLPA cannot delineate deletion boundaries or confirm loss of neighboring genes, this broader interpretation remains presumptive pending array-based confirmation. The occurrence of multiple basal cell carcinomas in adolescence should prompt evaluation for inherited tumor-predisposition syndromes. When extracutaneous developmental or congenital abnormalities are present, genetic testing capable of detecting and mapping copy-number variants should be considered.