A rare presentation of squamous cell carcinoma in a patient with PIBIDS-type trichothiodystrophy.
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.
Charles
Carlos A
CA
Division of Pediatric Dermatology, Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida, USA.
Connelly
Elizabeth Alvarez
EA
Aber
Cheryl G
CG
Herman
Alysa R
AR
Schachner
Lawrence A
LA
D000293:Adolescent; D002294:Carcinoma, Squamous Cell / Q000175:diagnosis* / Q000209:etiology*; D003094:Collagen / Q000008:administration & dosage; D003286:Contracture / Q000601:surgery; D005260:Female; D006225:Hand; D006801:Humans; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000209:etiology*; D016038:Skin Transplantation; D017768:Skin, Artificial; D054463:Trichothiodystrophy Syndromes / Q000150:complications* / Q000628:therapy
C117898:Apligraf; D003094:Collagen