Meşe TİMUR, Dizdarer CEYHUN, Özcan TUĞRUL, Yener HALE, Evrengül HAVVA, Aktaş SAFİYE, Ortaç RAGIP

Yenidoğan döneminde incontinentia pigmenti (Bloch-Sulzberger sendromu): Olgu sunumu (Üç olgu)

İncontinentia Pigmenti (Bloch Sulzberger Hastalığı) X'e bağlı dominant geçiş gösteren, ektodermal ve mezodermal kökenli organ tutulumlu bir hastalıktır. Klinikte değişik cilt ve organ tutulumları He seyreder. Sitogenetik çalışmalarda Xp11 (IP1) ve Xq28 (IP2) de kırılma ve NEMO (NF kappa B Essential Modulator) gen mutasyonu da bu hastalarda gösterilmiştir. Klinik özelliklerin %95'i kızlarda görülür. Erkekler için prenatal dönemde öldürücüdür. Bu yazıda son bir yıl (2002) içerisinde kliniğimizde görülen üç incontinentia pigmenti olgusu ile konu hakkındaki güncel gelişmeler bildirilmektedir.

Anahtar Kelimeler:

Süt çocuğu, yenidoğan, İnkontinensiya pigmenti

Incontinentia pigmenti (Bloch-sulzberger disease) in neonatal period: Case report (Three cases)

incontinentia Pigmenti (Bloch Sulzberger Disease) is a X linked dominant disease involves ectodermal and mesodermal tissues. Presentation of disease is with skin lesions in newborn period. Cytogenetic studies revealed breakage Xp11 (IP1) and Xq28 (IP2) and NEMO (NF kappa B Essential Modulator) gene mutation has already shown. Ninetyfive percent of affected patients are female. It is lethal for males in prenatal period. We present three newborn baby with incontinentia pigmenti diagnosed in a year period.

Keywords:

Infant, Newborn, Incontinentia Pigmenti,

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