xeroderma pigmentosum complementation group C

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xeroderma pigmentosum complementation group C

A rare autosomal recessive disorder (OMIM:278720) characterised by UV light sensitivity, an increased risk of UV light-induced malignancy and, in some cases, neurologic disease.

Molecular pathology
Defects of XPC, which encodes an early component of the global genome nucleotide excision repair (NER) pathway, cause xeroderma pigmentosum complementation group C.
References in periodicals archive ?
introduced its XLamp XP-E and XP-C LEDs, which are presented as having the smallest footprint in the industry for lighting-class LEDs.
We present the case of a 3-year old girl with clinical manifestations typical of XP-CS, an extremely rare combination of Xeroderma Pigmentosum and Cockayne Syndrome.
Keywords: Xeroderma Pigmentosum-Cockayne Syndrome complex (XP-CS), Xeroderma Pigmentosum (XP), Cockayne Syndrome (CS)
Clinically, the patients have a marked susceptibility to acute sunburns after minimum exposure, facial freckling, increased risk of skin cancer and pigmentary changes that are characteristic of XP.4 The neurological and somatic features are CS-like3 and include growth failure, intellectual disability, delayed development, sensorineural hearing deficit, progeria, failure to thrive, and severe cachexia characterized by deep-set eyes.4 The neuroimaging reveals brain atrophy, ventriculomegaly, tigroid demyelination and microcephaly, findings also characteristic of CS.1,4 Here, we report a case of a 3-year-old girl presenting with clinical features strongly suggestive of XP-CS complex.
The absence of the characteristic facial rash also excluded RTS as the diagnosis.10 The hallmark radiological findings in XP-CS patients include intracranial calcifications, brain atrophy and tigroid demyelination; two of these are present in the index case.
Delayed development is also a hallmark feature in XP-CS patients.
Literature highlighted the occurrence of XP-CS in three brothers in Pakistan, showing that it may cluster in families and the diagnosis here was also established using clinical background only.14 The treatment of XP-CS is mainly symptomatic and supportive.