Charles Carlos A, Connelly Elizabeth Alvarez, Aber Cheryl G, Herman Alysa R, Schachner Lawrence A
Division of Pediatric Dermatology, Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida, USA.
Pediatr Dermatol. 2008 Mar-Apr;25(2):264-7. doi: 10.1111/j.1525-1470.2008.00649.x.
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.
F型毛发硫营养不良的临床表现包括光敏性、鱼鳞病、脆发、智力障碍、生育能力下降和身材矮小，常被称为PIBIDS综合征。虽然这些患者中的许多人也表现出着色性干皮病患者的特征，包括类似的核苷酸切除修复基因缺陷和光敏性，但PIBIDS患者很少出现皮肤恶性肿瘤。本病例报告展示了一名PIBIDS患者发生鳞状细胞癌的罕见表现。
