Same names. Completely different diseases.And as a healthcare student we often mix it up.
Gorlin-Goltz Syndrome
Also called: Nevoid Basal Cell Carcinoma Syndrome
Cause: Mutation in the PTCH1 gene
Inheritance: Autosomal dominant
Common Features:
- Multiple basal cell carcinomas at a young age
- Odontogenic keratocysts in the jaw
- Palmar & plantar pits
- Calcification of falx cerebri
- Skeletal abnormalities (bifid ribs, scoliosis)
Goltz-Gorlin Syndrome
Also called: Focal Dermal Hypoplasia
Cause: Mutation in the PORCN gene
Usually X-linked dominant
Common Features:
- Thin, patchy skin with fat herniation
- Limb deformities or missing digits
- Eye abnormalities
- Dental defects
- Facial asymmetry
Easiest way to remember:
Gorlin-Goltz → “Cancer & Cysts”
Goltz-Gorlin → “Skin & Skeleton”
Just reversing two names changes the entire diagnosis.Not every rare syndrome is "just a syndrome."Sometimes, the name itself is the clinical trap.