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Syndrome with frontal and paritofrontal bossing with skin tumors in mid face

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Gorlin syndrome basal cell nevus frontal bossing skin tumors

The syndrome described is Gorlin-Goltz Syndrome (Nevoid Basal Cell Carcinoma Syndrome / Basal Cell Nevus Syndrome — OMIM #109400).

Gorlin-Goltz Syndrome (Basal Cell Nevus Syndrome)

Key Features Matching Your Description

  • Frontal and parietofrontal bossing — prominent, protruding forehead (a major craniofacial dysmorphic feature)
  • Skin tumors of the midface — multiple basal cell carcinomas (BCCs) appearing in the periorbital, nasal, and malar regions, often from a young age

Genetics

FeatureDetail
InheritanceAutosomal dominant
GenePTCH1 (chromosome 9q) — tumor suppressor
PathwayHedgehog signaling pathway
MechanismTwo-hit tumor suppressor model (germline + somatic loss)

Classic Triad

  1. Multiple basal cell carcinomas (BCCs) — appearing early in life, often on the face (midface predominance)
  2. Odontogenic keratocysts of the jaw (mandible > maxilla)
  3. Palmar and plantar pits — small punctate depressions

Full Diagnostic Criteria (Major)

  • Multiple BCCs or BCC before age 20
  • Odontogenic keratocysts of the jaw
  • Palmar/plantar pits (≥3)
  • Frontal bossing, macrocephaly, coarse facies
  • Calcification of the falx cerebri (lamellar, before age 20)
  • First-degree relative with BCNS

Additional Features

  • Skeletal anomalies: bifid ribs, short 4th metacarpal, scoliosis
  • CNS tumors: medulloblastoma (desmoplastic variant), meningioma
  • Cardiac/ovarian fibromas
  • Hypertelorism, broad nasal bridge
  • Ectopic calcifications

Diagnosis

Requires 2 major or 1 major + 2 minor criteria; confirmed by PTCH1 mutation analysis.

Treatment

  • Regular dermatological surveillance with excision of BCCs
  • Hedgehog pathway inhibitors (vismodegib, sonidegib) — FDA-approved for advanced/metastatic BCC in BCNS patients
  • Annual jaw X-rays; ophthalmology and neurology follow-up

Clinical Images

Gorlin syndrome — frontal bossing and facial BCCs
56-year-old female with frontal bossing, broad nasal bridge, ulcerated BCC on philtrum, and multiple BCC papules across forehead and periorbital regions
Gorlin syndrome — frontal bossing and finger pits
Frontal bossing + hypertelorism (panel a) and characteristic digital/palmar pits (panel b)
— Fitzpatrick's Dermatology, Vol. 1–2 | — Harrison's Principles of Internal Medicine 22E
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