IllnessGorlin syndrome, differential diagnosis

Gorlin[-Goltz] or basal cell nevus syndrome is a multisystemic disease that causes numerous basal cell carcinomas at an early age and other malformations, particularly of the skeletal and urogenital systems, the CNS and the heart. The main symptoms are (prematurely developing) basal cell carcinomas, jaw cysts, pits, calcifications of the falx cerebri and medulloblastomas. Basal cell nevi mostly occur in the 3rd decade of life, the syndrome is inherited autosomal-dominantly. More than 2/3 of the pathogenic mutations are identified in the PTCH1 gene, others in the SUFU gene, whereby SUFU mutations can be accompanied by incomplete penetrance. Besides very few pathogenic sequence variations in other genes, 20-30% of the pathogenic PTCH1 variants occur de novo. Today, mutations are found in over 90% of clinically proven patients with Gorlin syndrome.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1116/?term=gorlin

• DD for newborn macrocephaly: Sotos (NSD1 gene) + Beckwith-Wiedemann syndromes
• Alias: Basalzell Nävus Syndrom
• Alias: Gorlin-Goltz syndrome, Naevoid basal cell carcinoma syndrome
• Alias: Multiple Basalzell-Nävi, odontogene Keratozysten und Skelett-Anomalien
• Allelic: Basal cell carcinoma, somatic (PTCH1, PTCH2)
• Allelic: Cylindromatosis, familial (CYLD)
• Allelic: Holoprosencephaly 7 (PTCH1)
• Allelic: Joubert syndrome 32 (SUFU)
• Allelic: Medulloblastoma, desmoplastic (SUFU)
• Allelic: Medulloblastoma, somatic (PTCH2)
• Allelic: Trichoepithelioma, multiple familial, 1 (CYLD)
• Basal cell carcinoma [panelapp] (ACTRT)
• Basal cell naevus syndrome (PTCH1, PTCH2, SUFU)
• Bazex–Dupré–Christol syndrome [panelapp] (ACTRT)
• Brooke-Spiegler syndrome (CYLD)