Cytokeratin 20 expression in basaloid follicular hamartoma and infundibulocystic basal cell carcinoma

J Cutan Pathol. 2014 Dec;41(12):916-21. doi: 10.1111/cup.12410.

Abstract

Background: Tumors with similar or identical histopathologic features have been termed basaloid follicular hamartoma (BFH) or infundibulocystic basal cell carcinoma (BCC). BCC typically lacks immunoreactivity with cytokeratin 20 (CK20) and pleckstrin homology-like domain, family A, member 1 protein (PHLDA1).

Aim: A series of BFH and infundibulocystic BCC were investigated to determine the pattern of CK20 and PHLDA1 labeling in these lesions.

Materials and methods: Thirty-six samples of BFH (n = 14) and infundibulocystic BCC (n = 22) were collected. CK20 and PHLDA1 staining was performed and evaluated.

Results: All the lesions were small (average of 3 mm), well circumscribed, and composed of basaloid to squamoid cells arranged in islands resembling ramifying rootlets with interspersed horn cysts. CK20-positive cells were present in all 36 cases (average, 22/mm(2)), throughout the tumor, including deeper portions, irrespective of original diagnosis. Six of thirty cases (20%; 5 infundibulocystic BCC, 1 BFH) were focally PHLDA1 positive.

Conclusions: Findings on hematoxylin and eosin staining and those of CK20 staining in BFH and infundibulocystic BCC were similar, and in most cases were indistinguishable. The CK20 labeling was similar to that of trichoepithelioma. The findings add a degree of support to the argument that BFH and infundibulocystic BCC represent the same lesion and, further, a benign one.

Keywords: PHLDA1; basaloid follicular hamartoma; cytokeratin 20; infundibulocystic basal cell carcinoma.

MeSH terms

  • Aged
  • Carcinoma, Basal Cell / diagnosis
  • Carcinoma, Basal Cell / metabolism*
  • Carcinoma, Basal Cell / pathology
  • Diagnosis, Differential
  • Female
  • Hair Follicle / abnormalities*
  • Hair Follicle / metabolism
  • Hair Follicle / pathology
  • Hamartoma / diagnosis
  • Hamartoma / metabolism*
  • Hamartoma / pathology
  • Humans
  • Immunohistochemistry
  • Keratin-20 / biosynthesis
  • Male
  • Middle Aged
  • Retrospective Studies
  • Skin Diseases, Genetic / diagnosis
  • Skin Diseases, Genetic / metabolism*
  • Skin Diseases, Genetic / pathology
  • Transcription Factors / biosynthesis

Substances

  • KRT20 protein, human
  • Keratin-20
  • PHLDA1 protein, human
  • Transcription Factors

Supplementary concepts

  • Basal cell carcinoma, infundibulocystic
  • Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant