TY - JOUR
T1 - A rare presentation of squamous cell carcinoma in a patient with PIBIDS-type trichothiodystrophy
AU - Charles, Carlos A.
AU - Connelly, Elizabeth Alvarez
AU - Aber, Cheryl G.
AU - Herman, Alysa R.
AU - Schachner, Lawrence A.
N1 - Copyright:
Copyright 2008 Elsevier B.V., All rights reserved.
PY - 2008/3
Y1 - 2008/3
N2 - 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.
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.
UR - http://www.scopus.com/inward/record.url?scp=42549130943&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=42549130943&partnerID=8YFLogxK
U2 - 10.1111/j.1525-1470.2008.00649.x
DO - 10.1111/j.1525-1470.2008.00649.x
M3 - Article
C2 - 18429798
AN - SCOPUS:42549130943
VL - 25
SP - 264
EP - 267
JO - Pediatric Dermatology
JF - Pediatric Dermatology
SN - 0736-8046
IS - 2
ER -