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A Rare Presentation of Squamous Cell Carcinoma in a Patient with PIBIDS‐type Trichothiodystrophy
Author(s) -
CHARLES CARLOS A.,
CONNELLY ELIZABETH ALVAREZ,
ABER CHERYL G.,
HERMAN ALYSA R.,
SCHACHNER LAWRENCE A.
Publication year - 2008
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2008.00649.x
Subject(s) - xeroderma pigmentosum , medicine , dermatology , presentation (obstetrics) , basal cell , short stature , pediatrics , genetics , pathology , dna repair , surgery , biology , gene
The clinical presentation of trichothiodystrophy type F includes p hotosensitivity, i chthyosis, b rittle hair, i ntellectual impairment, d ecreased fertility, and s hort 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.