RESUMEN
Background: Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by cutaneous and ocular photosensitivity and an increased risk of developing cutaneous neoplasms. Progressive neurological abnormalities develop in a quarter of XP patients. Aim: To study the clinical profile and perform a mutation analysis in Indian patients with xeroderma pigmentosum. Methods: Ten families with 13 patients with XP were referred to our clinic over 2 years. The genes XPA, XPB and XPC were sequentially analyzed till a pathogenic mutation was identified. Results: Homozygous mutations in the XPA gene were seen in patients with moderate to severe mental retardation (6/10 families) but not in those without neurological features. Two unrelated families with a common family name and belonging to the same community from Maharashtra were found to have an identical mutation in the XPA gene, namely c.335_338delTTATinsCATAAGAAA (p.F112SfsX2). Testing of the XPC gene in two families with four affected children led to the identification of the novel mutations c.1243C>T or p.R415X and c.1677C>A or p.Y559X. In two families, mutations could not be identified in XPA, XPB and XPC genes. Limitation: The sample size is small. Conclusion: Indian patients who have neurological abnormalities associated with XP should be screened for mutations in the XPA gene.
Asunto(s)
Adolescente , Adulto , Niño , Familia/epidemiología , Femenino , Efecto Fundador , Humanos , India/epidemiología , Masculino , Mutación/análisis , Mutación/genética , Mutación Missense/genética , Manifestaciones Neurológicas , Xerodermia Pigmentosa/epidemiología , Xerodermia Pigmentosa/genética , Xerodermia Pigmentosa/patología , Proteína de la Xerodermia Pigmentosa del Grupo A/genéticaRESUMEN
Tattooing has been practiced in India since ancient era. It has tremendous religious and spiritual significance. In addition, tattooing for cosmetic purposes has become quite popular in recent times. With this increasing trend, there is also an increased risk of adverse effects. Here, we have described two cases of lichenoid reaction developing to red ink in double- colored tattoos and a case of sarcoidal reaction to green tattoo.