Cutaneous Keratocyst
David Cassarino, MD, PhD
Key Facts
Terminology
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NBCCS cutaneous cyst/Gorlin-Goltz syndrome
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Rare cutaneous cyst showing features identical to oral keratocysts
Etiology/Pathogenesis
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Most cases are associated with NBCCS
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Rare cases not associated with NBCCS also reported
Microscopic Pathology
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Dermal-based cystic proliferation lined by 2-5 cell layers of bland squamous cells
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Typically shows corrugated eosinophilic lining (cuticle) on luminal surface
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No evidence of follicular or sebaceous differentiation (unlike steatocystoma)
Top Differential Diagnoses
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Steatocystoma, epidermoid (epidermal inclusion) cyst
Scanning magnification view of a cutaneous keratocyst shows an undulating squamous epithelium lining the irregularly shaped cystic spaces. |
High magnification of a cutaneous keratocyst shows a bland squamous epithelium with a dense eosinophilic cuticle  lining the cystic space. |
TERMINOLOGY
Synonyms
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Nevoid basal cell carcinoma syndrome (NBCCS)/Gorlin-Goltz syndrome-associated cutaneous cyst
Definitions
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Rare cutaneous cyst showing features identical to oral keratocysts, often associated with NBCCS
ETIOLOGY/PATHOGENESIS
Genetic
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Most cases are associated with NBCCS (Gorlin-Goltz syndrome: Multiple cutaneous basal cell carcinomas, odontogenic keratocysts of the jaw, palmar and plantar pits, rare medulloblastomas, and skeletal abnormalities)
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Mutations for NBCCS in PTCH1 gene on chromosome 9q22.3-q31, which encodes a receptor for the Sonic Hedgehog signaling pathway
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Rare cases not associated with NBCCS also reported
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