Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0043346 (xeroderma pigmentosum)
 2,924 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Xeroderma pigmentosum is a genodermatosis with neurological manifestations in approximately 18p. 100 of cases. Polymorphous and variably associated signs are observed, progressing with the clinical course. The etiology of the neurological breach remains unknown. We report two siblings who had xeroderma pigmentosum with intellectual deficiency, a pyramidal, cerebellar and cordonal syndrome, ophthalmoplegia, and axonal peripheral neuropathy. We discuss the epidemiological, clinical and electrophysiological aspects of the neurological breach in xeroderma pigmentosum.
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PMID:[Neurological manifestations of xeroderma pigmentosum]. 1099 26

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.
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PMID:A rare presentation of squamous cell carcinoma in a patient with PIBIDS-type trichothiodystrophy. 1842 98