Molecular mechanism in a rare autosomal recessive case of xeroderma pigmentosum - a case report

Abstract

AbstractChromosomal instability syndromes are a special group of disorders of cytogenetic interest which comprises of several rare, autosomal recessive conditions. Following exposure to sunlight, excessive chromosomal instability, breakage, defective nucleotide excision repair in DNA, defective apoptosis and increased susceptibility to neoplasia occurs. Xeroderma pigmentosum (XP) is characterised by the presence of chromosomal breakages, associated with increased frequency of sister chromatid exchanges. This is a case report of a 6 year old, male child having XP with dermal and ocular manifestations. Chromosomal breaks in chromosomal spread are seen. If it occurs in families, consanguinous marriages should be avoided; appropriate genetic counselling suggested and simple sun guarding techniques with appropriate protection from UV exposure can reduce the morbidity in these patients.