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Archivos argentinos de pediatría

Print version ISSN 0325-0075On-line version ISSN 1668-3501


NINOMIYA, Inés Silvia et al. Disqueratosis congénita: presentación de un caso clínico. Arch. argent. pediatr. [online]. 2006, vol.104, n.5, pp.441-444. ISSN 0325-0075.

Congenital dyskeratosis or Zinsser Egman-Cole syndrome is an infrequent dermatosis, characterized by reticulate hyperpigmentation, dystrofia of skin appendages, premalignant leucoplakia of the oral mucosa, and progressive pancytopenia. The purpose of this paper is to present an 8 year old male patient who consulted because of ferropenic anemia, trophic disorders in skin and mucosae, severe tongue leucoplakia, and dysphagia for solid and semisolid foods. The initial diagnosis was Plummer-Vinson syndrome due to the presence of high esophageal webs. The persistent simptomatology in spite of medical treatment, the appearence of reticulated hyperpigmentation in neck and trunk, and the progressive leucopenia led to the suspicion of this diagnosis, which was confirmed by an appropriate genetic examination.

Keywords : Diskeratosis; Leucoplakia; DKC 1 gene; Hyperpigmentation.

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