İnkontinensia pigmenti (Bloch Sulzberger sendromu)

Öznur Küçük; Emine Çölgeçen; Eylem Yalman

İnkontinensia pigmenti (Bloch Sulzberger sendromu)

Year 2011, Volume: 33 Issue: 4, 492 - 496, 08.08.2011

Öznur Küçük Emine Çölgeçen Eylem Yalman

Abstract

Özet

İnkontinensia pigmenti (İP) X’e bağlı dominant geçiş gösteren deri, saç, diş ve merkezi sinir sistemi (MSS)’nin etkilendiği, ender rastlanan kalıtsal bir hastalıktır. İlk ortaya çıkan bulgular genellikle deri bulgularıdır ve yaklaşık %80 olguda deri bulgularının yanı sıra farklı şiddette eşlik eden diğer sistem bulguları görülür. Bir yaşındaki kız çocuğu vücudunda koyu renkli lekeler ve yaralar nedeniyle polikliniğimize başvurdu. Dermatolojik muayenede gövdede ve ekstremitelerde Blaschko çizgilerini takip eden hiperpigmente maküller, sağ kolda, el sırtında ve bacaklarda yer yer hemorajik kurutlu yer yer de hiperkeratotik papüller ve verrüköz plaklar mevcuttu. Olguya tipik bulgularından dolayı İP tanısı konuldu. Olgumuzda sistemik tutulum tespit edilmedi. Bu olgu ile İP tanısının tekrar gözden geçirilmesi amaçlandı.

Anahtar sözcükler: İnkontinensia pigmenti, kız çocuk

Abstract

Incontinentia pigmenti (IP) is a rare hereditary disease that shows X-linked dominant inheritance and effects the skin, hair, teeth, and central nervous system. Initial symptoms are usually skin and cutaneous findings and cutaneous lesions are accompanied with other systems symptoms with different intensity in approximately 80% of the patients. One-year-old girl was admitted to our outpatient clinic because of dark marks and ulcers in her body. Dermatologic examination revealed hyperpigmented macules following the lines of Blaschko on the trunk and the extremities. There was hemorrhagic, crusted lesions and in some areas hyperkeratotic papules and verrucous plaques are detected on right arm, dorsum of hand and legs. The patient was diagnosed as IP because of typical symptoms. In our patient, systemic involvement was not detected. To review the diagnosis of IP is aimed in this study.

Keywords: Incontinentia pigmenti, the girl child

Keywords

References

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