Gorlin-Goltz syndrome: Multiple cutaneous basal cell carcinomas, odontogenic keratocysts of jaw, palmar and plantar pits, rare medulloblastomas, and skeletal abnormalities
• Rare cases not associated with NBCCS also reported
Clinical Issues
• Extremely rare lesions
• Typically occur on head and neck region but can occur at other sites
• Dermal cysts, usually multiple lesions, but may be single
Microscopic
• Dermal-based cystic proliferation lined by 2-5 cell layers of bland squamous cells
• Typically shows corrugated eosinophilic lining (cuticle) and parakeratosis on luminal surface
• No evidence of follicular or sebaceous differentiation (unlike steatocystoma)
Top Differential Diagnoses
• Steatocystoma
• Epidermoid (epidermal inclusion) cyst
• Pilar (tricholemmal) cyst
• Vellus hair cyst
• Hidrocystoma
Diagnostic Checklist
• Bland squamous-lined cyst, which typically shows prominent corrugated eosinophilic lining (cuticle)
Scanning Magnification of Cutaneous Keratocyst Scanning magnification view of a cutaneous keratocyst shows an undulating squamous epithelium lining the irregularly shaped cystic spaces. There are no associated sebaceous glands, unlike steatocystoma.
Intermediate Magnification of Cutaneous Keratocyst The cyst shows a bland, multilayered squamous lining surrounding an irregularly shaped cystic space.
High Magnification of Dense Eosinophilic Cuticle of Keratocyst High-magnification view of the lining of the cyst shows a bland, multilayered squamous epithelium with a dense eosinophilic cuticle and parakeratosis lining the cystic space.
Dense Eosinophilic Cuticle of Keratocyst Another high magnification of a cutaneous keratocyst shows a bland squamous epithelium with a dense eosinophilic, jagged-appearing cuticle lining the cystic space.
• Rare cutaneous cyst showing features identical to oral keratocysts, often associated with NBCCS
ETIOLOGY/PATHOGENESIS
Genetic
• Most cases are associated with NBCCS (Gorlin-Goltz syndrome: Multiple cutaneous basal cell carcinomas, odontogenic keratocysts of jaw, palmar and plantar pits, rare medulloblastomas, and skeletal abnormalities)
Mutations for NBCCS in PTCH1 gene on chromosome 9q22.3-q31, which encodes receptor for the Sonic Hedgehog signaling pathway
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