Incontinentia pigmenti (Bloch–Siemens syndrome)

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    Incontinentia pigmenti (BlochSiemens syndrome)

    Yaqin Zhang & Venkatesh Pyla & Xianling Cong

    Received: 13 February 2013 /Accepted: 26 February 2013 /Published online: 12 March 2013# Springer-Verlag Berlin Heidelberg 2013

    Abstract Incontinentia pigmenti (IP) is an uncommonX-linked dominant genodermatosis. It affects predomi-nantly females and is lethal in utero in male fetuses.We herein report a baby girl born with blisters ontrunk and limbs. The diagnosis of IP was based onclinical findings and on histopathological analysis ofbiopsy specimen.

    Keywords Incontinentia pigmenti

    A baby girl born after an uncomplicated pregnancy to ahealthy 36-year-old multigravida, presented with blisterson trunk and limbs and sparing the face. The infant was

    admitted to the Neonatal Intensive Care Unit until 2 weeksafter birth. Clinical examination on the 15th day, skin con-dition getting better, most of the blisters dried up with crust,some new blisters were presented on limbs and containyellow colored fluid (Fig. 1a). Eighty-two days later, reso-lution of lesions was almost completed with a brown toslate-gray pigmented streaks (Fig. 1b), no lymph nodesenlargement was noted. The mother had no exposure toinfectious disease or genital infections during pregnancy.She took no medications and did not drink alcohol,smoke. Family history is negative for a similar condition.Histological examination of lesion shows intraepidermalblisters, perivascular lymphocytes infiltration in the der-mis. Laboratory investigations were either negative ornormal, which confirmed the suspicion that the lesionsincontinentia pigmenti.

    Incontinentia pigmenti (IP) is an uncommon X-linkeddominant genodermatosis, it affects the skin, eyes, teeth,and may be associated with neurological defects [1, 3].Cutaneous manifestations are classically subdivided intofour stages: vesiculobullous, verrucous, hyperpigmented,and atrophic.

    IP is a single-gene disorder caused by mutation in theNEMO (nuclear factor kB essential modulator) gene located

    Y. Zhang :V. PylaDepartment of Dermatology and Venereology, The SecondHospital of Jilin University, Changchun 130041, China

    X. Cong (*)Department of Dermatology and Venereology, ChinaJapan UnionHospital of Jilin University, Changchun 130033, Chinae-mail:

    Eur J Pediatr (2013) 172:11371138DOI 10.1007/s00431-013-1982-y

  • at chromosome Xq28. Piccoli et al. reported that NEMOgene associated with SLE [2].

    Treatment is symptomatic and supportive. At present,the girl is healthy without treatment and we continue themedical follow-up.

    Funding Supported by Jilin Provincial Science and TechnologyDepartment (no. 20110738)

    Conflict of interest The authors declare that they have no conflictof interest.


    1. Nogueira A, Lisboa C, Eloy C, Mota A, Azevedo F (2009) Vesicularrash in a newborn Incontinentia pigmenti. Indian J DermatolVenereol Leprol 75(3):330

    2. Piccoli GB, Attini R, Vigotti FN, Naretto C et al (2012)NEMO syndrome (incontinentia pigmenti) and systemic lu-pus erythematosus: a new disease association. Lupus 2(6):675681

    3. Vreeburg M, van Steensel MA (2012) Genodermatoses caused bygenetic mosaicism. Eur J Pediatr 171(12):17251735

    Fig. 1 a Dried blisters with crust located on the limbs, b brown to slat-gray pigmented streaks

    1138 Eur J Pediatr (2013) 172:11371138

    Incontinentia pigmenti (BlochSiemens syndrome)AbstractReferences


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