Incontinentia Pigmenti: A Newborn with Characteristic Skin Lesions and Bilateral Optic Atrophy: Case Report and Review of Literature

  • Maryam Azizzadeh Department of Dermatology, Semnan University of Medical Sciences, Semnan, Iran.
  • Morteza Rezaei Department of Pediatrics, Semnan University of Medical Sciences, Semnan, Iran.
  • Nargess Hashemi Mail Department of Pediatrics, Semnan University of Medical Sciences, Semnan, Iran.
Bloch- Sulzberger disease, Incontinentia Pigmenti, Optic atrophy, Newborn


Incontinentia Pigmenti (IP) is a rare X-linked dominant disorder with skin, eye, central nervous system (CNS) and tooth abnormalities. According to the reported cases, it is estimated that there have been nearly 900-1200 affected individuals. In this article, the literature is reviewed and a case of IP with characteristic skin lesions and optic atrophy is presented.


Minić S, Novotny GE, Medenica L, Obradović M, Stefanović B, Trpinac D. Two male patients with incontinentia pigmenti. Vojnosanit Pregl 2010;67(2):183–6.

Bruckner AL. incontinentia pigmenti: a window to the role of NF-kappaB function. Semin Cutan Med Surg 2004;23(2):116-24.

Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, Israël A, Heiss NS, Klauck SM, Kioschis P, Wiemann S, Poustka A,Esposito T, Bardaro T, Gianfrancesco F, Ciccodicola A, D'Urso M, Woffendin H, Jakins T, Donnai D, Stewart H, Kenwrick SJ, Aradhya S, Yamagata T, Levy M, Lewis RA, Nelson DL. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International incontinentia pigmenti (IP) Consortium. Nature 2000;405(6785):466-72.

Mayer EJ, Shuttleworth GN, Greehalgh KL, Sansom JE, Grey RHB, Kenwrick S. Novel cornea features in two males with incontinentia pigmenti. Br J Ophthalmol 2003;87(5):554-6.

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(1):136-8.

Ormond DT, Gamonal SB, Gamonal A, Carvalho MT. Condiloma de Buschke Lowenstein em paciente com incontinencia pigmentar. An Bras Dermatol 1998;73:29-32.

Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Teillac D, Smahi A, Touil Y, Fraitag S, de Prost Y, Bodemer C. Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol 2003;139(9):1163-70.

Miteva L, Nikolova A. Incontinentia pigmenti: a case associated with cardiovascular anomalies. Pediat Dermatol 2001;18(1):54-6.

Phan TA, Wargon O, Turner AM. Incontinentia pigmenti case series: clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives. Clin Exp Dermatol 2005;30(5):474-80.

Topham EJ, Simpson Dent SL, Child FJ. Incontinentia pigmenti. Clin Exp Dermatol 2003;28(1):103-4.

Landy SJ, Donnai D. Incontinentia pigmenti (Bloch- Sulzberger syndrome).J Med Genet 1993;30(1):53-9.

Carney RG. Incontinentia pigmenti: a world statistical analysis. Arch Dermatol 1976;112(4):535-42.

Shan E .Vesiculopustular diseases of neonates and infants. Curr Opin Pediatr 1994;6(4):442–6.

Tristao OC, Baraky AKC, Carvalho MTF, Pereira CAC. Incontinentia pigmenti- sindrome de Block-Sulzberger: relato de caso. An Bras Dermatol 1995;70:231-3.

Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002;47(2):169-87.

Kitakawa D, Campos F P, Cintra Magalhães FA, AlmeidaJD,Guimarães Cabral LA. Incontinentia pigmenti presenting as hypodontia in a 3-year-old girl:a case report. J Med Case Rep 2009;3:116.

Domínguez-Reyes A, Aznar-Martin T, Cabrera-Suarea E. General and dental characteristics of Bloch-Sulzberger syndrome. Review of literature and presentation of a case report. Med Oral 2002;7(4):293-7.

Sybert VP. Incontinentia pigmenti nomenclature. Am J Hum Genet 1994;55(1):209-11.

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(30):474-82.

Karth PA, Johnson A, Han DP. Incontinentia Pigmenti.

Goldberg MF, Custis PH. Retinal and other manifestations of incontinentia pigmenti (bloch sulzberger syndrome). Ophthalmol 1993;100(11):1645-54.

Goldberg MF.The blinding mechanisms of incontinentia pigmenti. Ophthalmic Genet 1994;15(2):69-76.

Minic S, Obradovic M, Kovacevic I, Trpinac D. Ocular anomalies in incontinentia pigmenti: Literature review and meta-analysis. Srp Arh Celok Lek 2010;138(7-8):408-13.

Lee AG, Goldberg MF, Gillard JH, Barker PB, Bryan RN. Intracranial assessment of incontinentia pigmenti using magnetic resonance imaging, angiography, and spectroscopic imaging. Arch Pediatr Adolesc Med 1995;149(5):573-80.

Pellegrino RJ, Shah AJ. Vascular occlusion associated with incontinentia pigmenti. Pediatr Neurol 1994;10(1):73-4.

Shuper A, Bryan RN, Singer HS. Destructive encephalopathy in incontinentia pigmenti:a primary disorder? Pediatr Neurol 1990;6(2):137-40.

Chatkupt S, Gozo AO, Wolansky LJ, Sun S. Characteristic MR findings in a neonate with incontinentia pigmenti. AJR Am J Roentgenol 1993;160(2):372-4.

Cohen BA. Incontinentia pigmenti. Neurol Clin1987;5(3):361-77.

Weedon D, Strulton O, Stenn KS, Golden Hersh MA, Trepeta RW. Systemic Pathology. In: The skin. 3rd ed. Churchill Livingston 1992;317-8.

Kmetz EC, Shashidhar Pai G, Burges GE. Incontinentia pigmenti with a foreshortened hand: evidence for the significance of NF kappa B in human morphogenesis. Pediatr Dermatol 2009;26(1):83-6.

El Fekih L, Hmaied W, Souissi K, Nasri H, Derbel F, Hamdi A. Incontinentia pigmenti: A rare cause of retinal vasculitis in children. Tunis Med 2008;86(12):1079-81.

Spallone A. Incontinentia pigmenti (Bloch-Sulzberger syndrome): Seven case reports from one family. Br J Ophthalmol 1987;71(8):629-34.

How to Cite
Azizzadeh M, Rezaei M, Hashemi N. Incontinentia Pigmenti: A Newborn with Characteristic Skin Lesions and Bilateral Optic Atrophy: Case Report and Review of Literature. Acta Med Iran. 51(11):805-810.