A rare presentation of squamous cell carcinoma in a patient with PIBIDS-type trichothiodystrophy

Carlos A. Charles, Elizabeth Alvarez Connelly, Cheryl G. Aber, Alysa R. Herman, Lawrence A. Schachner

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

The clinical presentation of trichothiodystrophy type F includes photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility, and short stature, often referred to as the PIBIDS syndrome. While many of these patients demonstrate features also found in xeroderma pigmentosum patients, including similar nucleotide excision repair gene defects and photosensitivity, PIBIDS patients rarely demonstrate cutaneous malignancies. This case report demonstrates the rare presentation of squamous cell carcinoma developing in a PIBIDS patient.

Original languageEnglish (US)
Pages (from-to)264-267
Number of pages4
JournalPediatric Dermatology
Volume25
Issue number2
DOIs
StatePublished - Mar 2008

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

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