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Vol. 110. Issue 4.
Pages 273-278 (May 2019)
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Vol. 110. Issue 4.
Pages 273-278 (May 2019)
Practical Dermatology
DOI: 10.1016/j.adengl.2019.03.009
Incontinentia Pigmenti
Incontinencia pigmenti
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F. Cammarata-Scalisia,
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francocammarata19@gmail.com

Corresponding author.
, F. Fuscob, M.V. Ursinib
a Unidad de Genética Médica, Departamento de Puericultura y Pediatría, Universidad de Los Andes, Mérida, Venezuela
b Institute of Genetics and Biophysics «Adriano Buzzati-Traverso», IGB-CNR, Nápoles, Italia
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Table 1. Proposed Diagnostic Criteria for Incontinentia Pigmenti and Prevalence of Some of the Corresponding Conditions as Reported in the Literature.a
Abstract

Incontinentia pigmenti (Bloch-Sulzberger syndrome) is a rare neuroectodermal dysplasia. It is an X-linked dominant disorder caused by mutations in the IKBKG/NEMO gene on Xq28. Approximately 80% of patients have a deletion of exons 4 to 10. Incontinentia pigmenti has an estimated incidence of 0.7 cases per 100 000 births. In hemizygous males, it is usually lethal, while in females, it has a wide spectrum of clinical manifestations. Incontinentia pigmenti is a multisystemic disease that invariably features skin changes. These changes are the main diagnostic criteria and they evolve in 4 stages, in association with other abnormalities affecting the central nervous system, eyes, teeth, mammary glands, hair, nails, skin, and other parts of the body. The aim of this brief review is to highlight the clinical features of this genodermatosis and underline the importance of case-by-case interdisciplinary management, including genetic counseling.

Keywords:
Incontinentia pigmenti
IKBKG/NEMO
Clinical features
Diagnosis
Treatment
Resumen

La incontinencia pigmenti (síndrome de Bloch-Sulzberger) es una displasia neuroectodérmica infrecuente, con patrón de herencia ligado al X dominante, causada por mutaciones en el gen IKBKG/NEMO y se encuentra localizado en Xq28. La deleción del exón 4 al 10 corresponde con la principal causa en aproximadamente el 80% de los casos. La incidencia estimada es de 0,7 en 100.000 nacimientos, usualmente letal en hombres hemicigotos y en el sexo femenino puede exhibir hallazgos clínicos variables. Es una entidad multisistémica, que incluye defectos en la piel, siempre presente y principal criterio diagnóstico, la cual evoluciona en cuatro etapas, asociada a alteraciones en el sistema nervioso central, globo ocular, dientes, glándula mamaria, pelo, uñas, entre otros. El objeto de esta breve revisión es resaltar los hallazgos clínicos de esta genodermatosis, con la finalidad de brindar el seguimiento médico individualizado e interdisciplinario que incluya un adecuado asesoramiento genético familiar.

Palabras clave:
Incontinencia pigmenti
IKBKG/NEMO
Clínica
Diagnóstico
Tratamiento

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