Histologic and immunohistochemical characteristics of cutaneous cysts in Goltz-Gorlin syndrome: clues for differentiation of nonsyndromic cysts

Am J Dermatopathol. 2014 Nov;36(11):892-8. doi: 10.1097/DAD.0000000000000081.


Goltz-Gorlin syndrome presents with multiple basal cell carcinomas, odontogenic keratocysts, and cutaneous cysts, among other manifestations. The cutaneous cysts have been described as both epidermoid cysts and keratocysts but were not further characterized. Light microscopic examinations were made on 23 cutaneous cysts in 4 patients associated with Goltz-Gorlin syndrome located on extremities, face, trunk, palms, and soles and compared with nonsyndromic vellus hair cysts, steatocystomas, and hybrid cysts. Twenty-one of the syndromic cysts revealed alternating infundibular-like and steatocystoma-like squamous epitheliums in varying proportions. The cysts were lined by both smooth and corrugated squamous epithelium. The horny layer was composed by alternating areas of thin, lamellate, and compact eosinophilic keratin. Only 2 cases showed an exclusive steatocystoma-like type of epithelium very similar to odontogenic keratocysts. Sebaceous glands and follicular structures were absent. There were no differences between palmar and plantar cysts and other anatomic locations. The ultrastructural findings in syndromatic cysts confirmed variable expression of keratohyalin granules. Only 3 of 6 cases of nonsyndromic hybrid cysts showed overlapping features with syndromic cysts. Immunohistochemical profiling of keratin, involucrin, filaggrin, loricrin, and BCL-2 expression in syndromatic cysts showed exclusive positivity of K19 and continuous staining for BCL-2. In summary, 2 types of cutaneous cysts are characteristic of Goltz-Gorlin, irrelevant of their anatomic location, namely steatocystoma-like and more frequently hybrid-like. The diagnosis of syndromic hybrid-like cysts should be considered whenever infundibular and steatocystoma differentiation alternate and overlap. Altogether, these findings in epithelial cysts may raise the suspicion of Goltz-Gorlin as an underlying cause.

MeSH terms

  • Adult
  • Aged
  • Biomarkers / analysis
  • Biopsy
  • Diagnosis, Differential
  • Epidermal Cyst / chemistry*
  • Epidermal Cyst / pathology*
  • Epithelial Cells / chemistry
  • Epithelial Cells / ultrastructure
  • Female
  • Filaggrin Proteins
  • Focal Dermal Hypoplasia / metabolism*
  • Focal Dermal Hypoplasia / pathology*
  • Humans
  • Immunohistochemistry*
  • Male
  • Middle Aged
  • Predictive Value of Tests
  • Skin / chemistry*
  • Skin / ultrastructure*
  • Young Adult


  • Biomarkers
  • FLG protein, human
  • Filaggrin Proteins