title: Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options.
abstract: Congenital erythropoietic porphyria is a rare disorder of heme biosynthesis, resulting from decreased enzymatic activity of uroporphyrinogen III synthase. Clinical manifestations are heterogenous, of variable severity, and with occasional phenotypic-genotypic correlation. A 14-month-old boy developed fever, extensive dermatitis, and reddish colored urine. Anemia, erythrodontia, hepatosplenomegaly, and massive urinary elimination of predominantly type I porphyrins was suggestive of congenital erythropoietic porphyria. Although hemolysis remained mild and compensated, facial and digital mutilation developed indicative of moderate clinical phenotype. Mutational analysis revealed compound heterozygosity of mutant alleles, including a novel mutation (p.Pro190Leu). The child received supportive management and underwent facial reconstruction successfully.
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College, Kalawati Saran Children's Hospital, New Delhi, India.
authors.forename: Meenu
authors.initials: M
authors.lastname: Pandey
authors.forename: Sharmila B
authors.initials: SB
authors.lastname: Mukherjee
authors.forename: Bijoy
authors.initials: B
authors.lastname: Patra
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor
authors.forename: Cecile
authors.initials: C
authors.lastname: Ged
authors.forename: Satinder
authors.initials: S
authors.lastname: Aneja
authors.forename: Anju
authors.initials: A
authors.lastname: Seth
mesh_terms: D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D017092:Porphyria, Erythropoietic / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*