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xeroderma pigmentosum, complementation group B (XPB)

Xeroderma pigmentosum is an autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. Some XP-D patients present features of Cockayne syndrome, including dwarfism, sensorineural deafness, microcephaly, mental retardation, pigmentary retinopathy, ataxia, decreased nerve conduction velocities.

Robbins et al. (1974) reported a young woman with xeroderma pigmentosum complementation group B. She presented with numerous cutaneous malignancies before she was 18 years old. Oh et al. (2006) provided a follow-up of this patient, who was the first identified with XP complementation group B. She had severe features of XP, including extreme sensitivity to sunlight, pigmentation abnormalities, and multiple skin cancers. She also had severe features of Cockayne syndrome, including wizened facial appearance, dwarfism, sensorineural deafness, microcephaly, severe mental retardation, microphthalmia, cataracts, optic atrophy, pigmentary retinal degeneration, hyperreflexia, ataxia, decreased nerve conduction velocities, enlarged cerebral ventricles, basal ganglia calcifications, and immature sexual development. She died at age 33 years of cardiovascular disease.

ABREVIATION(S):
XPB
XPBC

TYPE: sensitivity to radiation, skin cancer

Related patway(s): nucleotide excision repair (NER), transcription factors

DNAtraffic protein(s) related to disease: ERCC3 (XPB)

OMIM: 610651

Last modification date: Aug. 17, 2011