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Archivos de Pediatría del Uruguay

On-line version ISSN 1688-1249

Abstract

MATELZONAS, Tamy; RUVERTONI, Marcelo; REYNO, Soraya  and  PINCHAK, María Catalina. Incontinentia pigmenti. Presentación neonatal.: A propósito de un caso clínico. Arch. Pediatr. Urug. [online]. 2010, vol.81, n.1, pp.23-29. ISSN 1688-1249.

Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare congenital X-linked genodermatosis with variable involvement of tissues derived from neuroectoderm and mesoderm skin, hair, nails, eyes and central nervous system. Differential diagnoses are manifested in the neonatal period, such as bullous impetigo, neonatal herpes, cytomegalovirus, mastocytosis and hereditary epidermolysis bullosa. Early diagnosis allows detection of associated diseases which  determine  the patients prognosis

Keywords :  INCONTINENTIA PIGMENTI; NEUROCUTANEOUS SYNDROMES; SPASMS, INFANTILE; VIGABATRIN-therapeutic use; SKIN DISEASES, GENETIC; ABNORMALITIES, MULTIPLE; X CHROMOSOME-genetics; INFANT, NEWBORN.

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