Öznur KÜÇÜK, Emine ÇÖLGEÇEN, Eylem YALMAN

İnkontinensia pigmenti (Bloch Sulzberger sendromu)

İnkontinensia pigmenti (İP) Xe bağlı dominant geçiş gösteren deri, saç, diş ve merkezi sinirsistemi (MSS)nin etkilendiği, ender rastlanan kalıtsal bir hastalıktır. İlk ortaya çıkan bulgulargenellikle deri bulgularıdır ve yaklaşık %80 olguda deri bulgularının yanı sıra farklı şiddette eşlikeden diğer sistem bulguları görülür. Bir yaşındaki kız çocuğu vücudunda koyu renkli lekeler veyaralar nedeniyle polikliniğimize başvurdu. Dermatolojik muayenede gövdede ve ekstremitelerdeBlaschko çizgilerini takip eden hiperpigmente maküller, sağ kolda, el sırtında ve bacaklarda yeryer hemorajik kurutlu yer yer de hiperkeratotik papüller ve verrüköz plaklar mevcuttu. Olguyatipik bulgularından dolayı İP tanısı konuldu. Olgumuzda sistemik tutulum tespit edilmedi. Bu olguile İP tanısının tekrar gözden geçirilmesi amaçlandı.

Incontinentia pigmenti (Bloch Sulzbelger syndrome)

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

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