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

Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002; 47: 169- 87.
Cohen BA. Incontinentia pigmenti. Neurol Clin 1987; 5: 361-77.
Oranje AP, Arts WF, Wagner A, van der Hout AH, Simonsz HJ. From gene to disease; incontinentia pigmenti and the NEMO-gene. Ned Tijdschr Geneeskd 2005; 149: 1682-5.
Sefiani A, Abel L, Heuertz S, Sinnett D, Lavergne L, Labuda D, Hors-Cayla MC. The gene for incontinentia pigmenti is assigned to Xq28. Genomics 1989; 4: 427- 9.
Pereira MA, Mesquita LA, Budel AR, Cabral CS, Feltrim Ade S. X-linked incontinentia pigmenti or Bloch-Sulzberger syndrome: a case report. An Bras Dermatol 2010; 85: 372-5.
Carney RG. Incontinentia pigmenti. A world statistical analysis. Arch Dermatol 1976; 112: 535-42.
Shah SN, Gibbs S, Upton CJ, Pickworth FE, Garioch JJ. Incontinentia pigmenti associated with cerebral palsy and cerebral leukomalacia: a case report and literature review. Pediatr Dermatol 2003; 20: 491-4.
Baykal C. Genodermatozlar. Dermatoloji Atlası. 2. Baskı. İstanbul, Nobel Tıp Kitabevleri 2004; 404-5.
Kim BJ, Shin HS, Won CH, Lee JH, Kim KH, Kim MN, Ro BI, Kwon OS. Incontinentia pigmenti: clinical observation of 40 Korean cases. J Korean Med Sci 2006; 21: 474-7.
Franco LM, Goldstein J, Prose NS, Selim MA, Tirado CA, Coale MM, McDonald MT. Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization. J Am Acad Dermatol 2006; 55: 136-8.
İşçimen A. Genetik ve gelişimsel pigmentasyon bozuklukları. Pediyatrik Dermatoloji. Tüzün Y, Kotoğyan A, Serdaroğlu S, Çokuğraş H, Tüzün B, Mat CM. İstanbul, Nobel Tıp Kitabevleri 2005; 351-4.
Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 1993; 30: 53-9.
Weston WL, Lane AT. Neonatal dermatology. In: Freedberg IM, Eisen AZ, Wolff K, Austen KF, Goldsmith LA, Katz SI, Fitzpatrick TB (eds) Fitzpatrick’s dermatology in general medicine. McGraw-Hill, New York, 1999; pp: 1661-682.
Welbury TA, Welbury RR. Incontinentia pigmenti (Bloch-Sulzberger syndrome): report of case. ASDC J Dentist Child 1999; 66: 213-5.
Yamashiro T, Nakagawa K, Takada K. Case report: orthodontic treatmant of dental problems in Incontinentia pigmenti. Angle Orthodont 1998; 68: 281-4.
Vicente-Villa A, Lamas JV, Pascual AM, Cuesta DL, Marfa MP, Gonzalez- Ensenat MA. Incontinentia pigmenti: a report of ten cases. Eur J Pediatr 2001; 160: 64-5.
Buinauskiene J, Buinauskaite E, Valiukeviciene S. Incontinentia pigmenti (Bloch-Sulzberger syndrome) in neonates. Medicina (Kaunas) 2005; 41: 496-9.
Kurleman G. Neurokutane Syndrome. In: Traupe H, Hamm H. Pediatrische Dermatologie. Berlin Heidelberg: Springer-Verlag; 1999; pp: 99-100.
Benbir G, Yalçınkaya C. Incontinentia pigmenti, Turkish J Neurol 2007; 13: 351- 7.
Miteva L, Nikolova A. Incontinentia pigmenti: a case associated with cardiovascular anomalies. Pediatr Dermatol 2001; 18: 54-6.
Timur M, Ceyhun D, Tuğrul Ö. Yenidoğan döneminde Incontinentia pigmenti (Bloch-Sulzberger sendromu) olgu sunumu (üç olgu). Ege Tıp Dergisi 2003; 42: 201-4.
Ardelean D, Pope E. Incontinentia pigmenti in boys: a series and review of the literature. Pediatr Dermatol 2006; 23: 523-7.
Metin A, Altın H. Bir Incontinentia pigmenti (Bloch-Sulzberger sendromu) olgusu. Bidder Tıp Bilimleri Dergisi 2009; 1: 25-8.
Wiederholt T, Poblete-Gutierrez P, Ott H, Lehmann S, Grussendorf- Conen EI, Beermann T, Frank J. Incontinentia pigmenti in a five-week-old girl. Hautarzt 2004; 55: 999-1001.