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

doi:10.1111/j.1525-1470.2008.00649.x

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

Dermatology & Cutaneous Surgery

Research output: Contribution to journal › Article › peer-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 language	English (US)
Pages (from-to)	264-267
Number of pages	4
Journal	Pediatric Dermatology
Volume	25
Issue number	2
DOIs	https://doi.org/10.1111/j.1525-1470.2008.00649.x
State	Published - Mar 2008

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Dermatology

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title = "A rare presentation of squamous cell carcinoma in a patient with PIBIDS-type trichothiodystrophy",

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.",

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AU - Herman, Alysa R.

AU - Schachner, Lawrence A.

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AB - 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.

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