SciELO - Scientific Electronic Library Online

vol.81 issue5Pigmented Paget's disease of the nipple mimicking cutaneous melanoma: importance of the immunohistochemical profile to differentiate between these diseasesSkin grafts in cutaneous oncology author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand




Related links


Anais Brasileiros de Dermatologia

Print version ISSN 0365-0596On-line version ISSN 1806-4841


RESENDE, Júlio César Possati et al. Endogenous pellagra and cerebellar ataxia without aminoaciduria: Hartnup disease?. An. Bras. Dermatol. [online]. 2006, vol.81, n.5, pp.461-464. ISSN 1806-4841.

A seven-year-old boy with history of convulsion, cutaneous hyperpigmentation in sun-exposed areas and recurrent episodes of cerebellar ataxia is presented. Once established the clinical diagnosis of Hartnup disease, treatment with nicotinamide was started, with improvement. Laboratorial results did not confirm aminoaciduria nor other identified metabolic changes. In Hartnup disease, defective renal and intestinal transport of neutral amino acids occurrs, resulting in reduction of tryptophan to produce to nicotinamide. Symptomatic cases present with intermittent episodes of cerebellar ataxia, pellagra-like skin rash and mental disturbances. Urinary chromatographic amino acid pattern confirms diagnosis; however, cases compatible with Hartnup disease, but without aminoaciduria, have been reported.

Keywords : Aminoaciduria, renal; Hartnup disease; Pellagra.

        · abstract in Portuguese     · text in English | Portuguese     · English ( pdf ) | Portuguese ( pdf )


Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License