RESUMEN
Rash and fever are some of the most common chief complaints present in paediatric dermatology emergencies. The spectrum of differential diagnosis is broad, including many different infectious and some non-infectious agents. A systematic approach involving detailed history taking, careful clinical examination along with particular attention to epidemiological features are the most important factors to make a diagnosis. This article reviews the morphological patterns of various causes of fever with rash in children, including infectious as well as non-infectious causes, with special emphasis on the Indian scenario. We intend to highlight the clinical characteristics of each cause, which will not only help make a clinical diagnosis but also distinguish benign versus life-threatening causes of skin rash in febrile paediatric patients and provide early medical intervention.
RESUMEN
Xeroderma pigmentosum is a rare autosomal recessive disorder resulting in heightened cutaneous photosensitivity due to aberrant DNA repair mechanisms. Early-life developmental delay and cognitive impairment have been described in xeroderma pigmentosum cases. However, psychiatric symptoms in adulthood as the presenting feature of xeroderma pigmentosum have not been reported. We report a young adult with xeroderma pigmentosum group G presenting with prominent neuropsychiatric manifestations and evidence of neurodegeneration. The clinical, laboratory, and radiological findings, skin biopsy, and the results of the genetic testing of the patient have been described after obtaining written and informed consent. A young adult male with skin photosensitivity since infancy developed hyper-religiosity, delusions, suicidal ideations, speech hypernasality, lower limb spasticity, and cognitive impairment over the past four years. The MRI of the brain showed diffuse cerebral atrophy. The skin biopsy from bilateral cheeks showed evidence of flattening and thinning of rete ridges, pigment incontinence, and perivascular and periappendageal inflammatory infiltrate. The whole exome sequencing in ethylenediaminetetraacetic acid (EDTA) blood revealed a compound heterozygous likely pathogenic mutation in intron 13 (c.2880-2A>G (3' splice site)) and a mutation in exon 15 (c.3146del (p.Asp1049ValfsTer12)) in the ERCC5 gene suggestive of xeroderma pigmentosum group G. This case highlights that prominent neuropsychiatric features in adulthood can occur due to xeroderma pigmentosum. Thus, xeroderma pigmentosum group G should be considered as a possibility among young adults presenting with neuropsychiatric features, evidence of neurodegeneration, and early-life skin photosensitivity.
RESUMEN
The association of immunobullous disorders with human immunodeficiency virus (HIV) infection is rare. Concurrence of these two conditions poses a therapeutic challenge as both cause immune dysregulation. We report pemphigus vulgaris in association with HIV infection in a 50-year-old woman who died of sepsis after receiving high-dose corticosteroids for the treatment of pemphigus vulgaris.