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
Typically occur on head and neck region but can occur at other sites
Dermal cysts, usually multiple lesions, but may be single
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
Epidermoid (epidermal inclusion) cyst
Pilar (tricholemmal) cyst
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.
Nevoid basal cell carcinoma syndrome (NBCCS)/Gorlin-Goltz syndrome-associated cutaneous cyst
Rare cutaneous cyst showing features identical to oral keratocysts, often associated with NBCCS
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
gene on chromosome 9q22.3-q31, which encodes receptor for the Sonic Hedgehog signaling pathway
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