Incontinentia pigmenti: presentación neonatal: a propósito de un caso clínico / Incontinentia pigmenti: neonatal presentation: a purpose of clinical case
Arch. pediatr. Urug
; 81(1): 23-29, 2010. ilus
Article
in Spanish
| LILACS
| ID: lil-588043
Responsible library:
UY1.1
RESUMEN
La incontinentia pigmenti (IP) también conocida como síndrome de Bloch-Sulzberger, es una genodermatosis infrecuente ligada al cromosoma X que afecta tejidos derivados del neuroectodermo piel, faneras, ojos, sistema nervioso central y dientes. En la etapa neonatal se plantean diagnósticos diferenciales como el impétigo ampollar, herpes neonatal, citomegalovirus, mastocitosis, epidermólisis ampollar hereditaria. El diagnóstico temprano permite detectar las posibles patologías asociadas, que son determinantes para el pronóstico del paciente.
ABSTRACT
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.
ABNORMALITIES, MULTIPLE; ANOMALÍAS MÚLTIPLES; CROMOSOMA X-genética; ENFERMEDADES CUTÁNEAS GENÉTICAS; ESPASMOS INFANTILES; INCONTINENTIA PIGMENTI; INFANT, NEWBORN; NEUROCUTANEOUS SYNDROMES; RECIÉN NACIDO; SKIN DISEASES, GENETIC; SPASMS, INFANTILE; SÍNDROMES NEUROCUTÁNEOS; VIGABATRIN-therapeutic use; VIGABATRIN-uso terapéutico; X CHROMOSOME-genetics
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Collection:
International databases
Database:
LILACS
Main subject:
Incontinentia Pigmenti
Type of study:
Prognostic study
/
Screening study
Limits:
Female
/
Humans
/
Infant, Newborn
Language:
Spanish
Journal:
Arch. pediatr. Urug
Journal subject:
Pediatrics
Year:
2010
Document type:
Article
Affiliation country:
Uruguay
Institution/Affiliation country:
Ministerio de Defensa/UY
/
Ministerio de Salud Pública/UY
/
Universidad de la República/UY