Bloch-Sulzberger syndrome (a clinical and immunopathological observation)

Makhneva N.V.; Tarasova Z.M.; Narogan M.V.; Davidenko E.B.; Bobrov M.A.; Khokhlova T.N.; Tamazian G.V.; Maliutina L.V.; Zakharova N.I.; Beletskaia L.V.

doi:https://doi.org/

Makhneva N.V.

Moskovskiĭ nauchno-prakticheskiĭ tsentr dermatovenerologii i kosmetologii Departamenta zdravookhraneniia

Tarasova Z.M.

Moskovskiĭ oblastnoĭ perinatal'nyĭ tsentr, Balashikha

Narogan M.V.

Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia

Davidenko E.B.

Moskovskiĭ nauchno-prakticheskiĭ tsentr dermatovenerologii i kosmetologii;
Moskovskiĭ oblastnoĭ nauchno-issledovatel'skiĭ klinicheskiĭ institut im. M.F. Vladimirskogo

Bobrov M.A.

GU MONIKI im. M.F. Vladimirskogo

Khokhlova T.N.

Moskovskiĭ oblastnoĭ perinatal'nyĭ tsentr, Balashikha

Tamazian G.V.

Ministerstvo zdravookhraneniia Moskovskoĭ oblasti;
kafedra akusherstva i ginekologii FUV MONIKI im. M.F. Vladimirskogo

RSCI AuthorID: 570237
Scopus AuthorID: 24172844000

Maliutina L.V.

Moskovskiĭ oblastnoĭ nauchno-issledovatel'skiĭ klinicheskiĭ institut im. M.F. Vladimirskogo

Zakharova N.I.

Moskovskiĭ oblastnoĭ nauchno-issledovatel'skiĭ klinicheskiĭ institut im. M.F. Vladimirskogo

Beletskaia L.V.

FGU "Federal'nyĭ nauchnyĭ tsentr transplantologii i iskusstvennykh organov im. V.I. Shumakova" Minzdrava Rossii, Moskva

Bloch-Sulzberger syndrome (a clinical and immunopathological observation)

Authors:

Makhneva N.V., Tarasova Z.M., Narogan M.V., Davidenko E.B., Bobrov M.A., Khokhlova T.N., Tamazian G.V., Maliutina L.V., Zakharova N.I., Beletskaia L.V.

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Journal: Russian Journal of Clinical Dermatology and Venereology. 2013;11(6): 36‑45

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To cite this article:

Makhneva NV, Tarasova ZM, Narogan MV, et al. Bloch-Sulzberger syndrome (a clinical and immunopathological observation). Russian Journal of Clinical Dermatology and Venereology. 2013;11(6):36‑45. (In Russ.)

Подписка 2026 Клиническая дерматология и венерология (Russian Journal of Clinical Dermatology and Venereology)

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Abstract:

Bloch-Sulzberger syndrome (incontinentia pigmenti) is a rare X-linked dominant neuroectodermal multisystem disorder due to mutations in the NEMO/IKK-γ gene located on chromosome Xq28. A neonatal girl was observed to have erythematous vesicular rashes at birth and in the further first weeks of life. The histological signs of an involved portion of the baby's skin corresponded to the vesicular stage of incontinentia pigmenti. Immunohistochemical examination demonstrated that she had immune complex disease with vasculopathy and involvement of a number of proteins of the skin and its cellular elements

Keywords:

Bloch-Sulzberger syndrome

incontinentia pigmenti

labeled antibody methods

molecular targets

immune complexes

Authors:

Makhneva N.V.

Moskovskiĭ nauchno-prakticheskiĭ tsentr dermatovenerologii i kosmetologii Departamenta zdravookhraneniia

Tarasova Z.M.

Moskovskiĭ oblastnoĭ perinatal'nyĭ tsentr, Balashikha

Narogan M.V.

Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia

Davidenko E.B.

Moskovskiĭ nauchno-prakticheskiĭ tsentr dermatovenerologii i kosmetologii;
Moskovskiĭ oblastnoĭ nauchno-issledovatel'skiĭ klinicheskiĭ institut im. M.F. Vladimirskogo

Bobrov M.A.

GU MONIKI im. M.F. Vladimirskogo

Khokhlova T.N.

Moskovskiĭ oblastnoĭ perinatal'nyĭ tsentr, Balashikha

Tamazian G.V.

Ministerstvo zdravookhraneniia Moskovskoĭ oblasti;
kafedra akusherstva i ginekologii FUV MONIKI im. M.F. Vladimirskogo

RSCI AuthorID: 570237
Scopus AuthorID: 24172844000

Maliutina L.V.

Moskovskiĭ oblastnoĭ nauchno-issledovatel'skiĭ klinicheskiĭ institut im. M.F. Vladimirskogo

Zakharova N.I.

Moskovskiĭ oblastnoĭ nauchno-issledovatel'skiĭ klinicheskiĭ institut im. M.F. Vladimirskogo

Beletskaia L.V.

FGU "Federal'nyĭ nauchnyĭ tsentr transplantologii i iskusstvennykh organov im. V.I. Shumakova" Minzdrava Rossii, Moskva

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References:

Thakur S., Puri R.D., Kohli S., Saxena R., Verma I.C. Utility of molecular studies in incontinentia pigmenti patients. Indian J Med Res 2011; 133: 442-445.
Darne S., Carmichael A.J. Isolated recurrence of vesicobullous incontinentia pigmenti in a schoolgirl. Br J Dermatol 2007; 156: 600-602.
Franco L.M., Goldstein J., Prose N.S., Selim M.A., Tirado C.A., Coale M.M., McDonald M.T. Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization. J Am Acad Dermatol 2006; 55: 136-138.
Fusco F., Fimiani G., Tadini G., Michele D., Ursini M.V. Clinical diagnosis of incontinentia pigmenti in a cohort of male patients. J Am Acad Dermatol 2007; 56: 264-267.
Cohen P.R. Incontinentia pigmenti: Clinicopathological characteristics and differential diagnosis. Cutis 1994; 54: 161-166.
Cohen P.R., Kurzrock R. Miscellaneous genodermatoses: Beckwith Wiedmann syndrome, Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti and supernumerary nipples. Dermatol Clin 1995; 13: 211-219.
Goldberg M.F., Custis P.H. Retinal and other manifestations of incontinentia pigmenti (Bloch Sulzberger syndrome). Opthalmology 1993; 100: 1645-1654.
Landy S.J., Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 1993; 30: 53-59.
Smahi A., Courtois G., Vabres P. Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti. Nature 2000; 405: 466-472.
Scheuerle A., Ursini M.V. Incontinentia pigmenti. In: Gene Reviews. Eds. Eds. R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, M.P. Adam. Seattle (WA): University of Washington (Seattle) 1993-2009.
Aradhya S., Bardaro T., Galgoczy P., Yamagata T., Esposito T., Patlan H., Ciccodicola A., Munnich A., Kenwrick S., Platzer M., D'Urso M., Nelson D.L. Multiple pathogenic and benign genomic rearrangements occur at a 35 κb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet 2001; 10: 2557-2567.
Lee Y., Kim S., Kim K., Chang M. Incontinentia pigmenti in newborn with NEMO mutation. J Korean Med Sci 2011; 26: 308-311.
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: 1163-1167.
Kim B.J., Shin H.S., Won C.H., Lee J.H., Kim K.H., Kim M.N., Ro B.I., Kwon O.S. Incontinentia pigmenti: clinical observation of 40 Korean cases. J Korean Med Sci 2006; 21: 474-477.
Phan T.A., Wargon O., Turner A.M. Incontinentia pigmenti case series: clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives. Clin Exp Dermatol 2005; 30: 474-480.
Beletskaya L.V., Danilova T.A. Metod immunoflyuorestsentsii v immunopatologii. V kn.: Immunolyuminestsentsiya v meditsine. Pod red. E.N. Levinoi. M: Meditsina 1977; 145-183.
Beletskaya L.V., Makhneva N.V. Mechenye antitela v normal'noi i patologicheskoi morfologii (atlas). M: MNPI 2000; 5-9.
Wiklund D.A. Incontinentia pigmenti. A four generation study. Arch Dermatol 1980; 116: 701-703.
Kovacs A., Schmidt E., Begany A., Hunyadi J., Szegedi A. Immunohistochemical examination of P-cadherin in bullous and acantholytic skin diseases. Acta Dermatol Venereol 2004; 84: 116-119.
Lenox J.M., Koch P.J., Mahoney M.G., Leiberman M., Stanley J.R., Radice G.L. Postnatal lethality of P-caderin/desmoglein3 double knockout mice: demonstration of a cooperative effect of theses cell adhesion molecules in tissue homeostasis of stratifird squamous epithelia. J Invest Dermatol 2000; 114: 948-952.
Makris C., Godfrey V.L., Krahn-Senftleben G. Female mice heterozygous for IKKγ/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti. Mol Cell 2000; 5: 969-979.
Succi I.B., Rosman F.C., Oliveira E.F. Incontinentia pigmenti. Do you know this syndrome? An Bras Dermatol 2011; 86: 3: 608-610.
Nogueira A., Lisboa C., Eloy C., Mota A., Azevedo F. Vesicular rash in a newborn. Indian J Dermatol Venereol Leprol 2009; 75: 330.
Paller A.S., Mancini A.J. Disoders of both hypopigmentation and hyperpigmentation. In: Hurwitz Clinical Pediatric Dermatology, 3rd ed. Eds. A.S. Paller, A.J. Mancini. Philadelphia: Elsevier Saunders 2006; 280-283.
Berlin A., Paller A., Chan L. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002; 47: 169-187.
Courtois G., Smahi A. NF-kappaB-related genetic diseases. Cell Death Differ 2006; 13: 843-851.
Nehal K.S., PeBenito R., Orlow S.J. Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko. Arch Dermatol 1996; 132: 1167-1170.
Badgwell A.L., Iglesias A.D., Emmerich S., Willner J.P. The natural history of incontinentia pigmenti as reported by 198 affected individuals. Nashville TN: American College of Medical Genetics. Ann Meeting 2007; Abstract 38: 40.
Pascual-Castroviejo I., Pascual-Pascual S.I., Velazquez-Fragua R., Martinez V. Incontinentia pigmenti: clinical and neuroimaging findings in a series of 12 patients. Neurologia 2006; 21: 239-248.
Fusco F., Fimiani G., Tadini G., Michele D., Ursini M.V. Clinical diagnosis of incontinentia pigmenti in a cohort of male patients. J Am Acad Dermatol 2007; 56: 264-267.
Jouet M., Stewart H., Landy S., Yates J., Yong S.L., Harris A., Garret C., Hatchwell E., Read A., Donnai D. Linkage analysis in 16 families with incontinentia pigmenti. Eur J Hum Genet 1997; 5: 168-170.
Thyresson N.H., Goldberg N.C., Tye M.J., Leiferman K.M. Localization of eosinophil granules major basic protein in incontinentia pigmenti. Pediatric Dermatol 1991; 8: 102-106.
O'Toole E.A., Arami S., Guitart J., MacKay C.R., Woodley D.T., Chan L.S. Eotaxin, an eosinophil-specific chemoattractant, is upregulated in bullous pemphigoid lesional epidermis and in normal human keratinocyte stimulated by a pro-inflammatory cytokine IL-1α. J Invest Dermatol 1997; 108: 546-549.
Jean-Baptiste S., O'Toole E.A., Chen M., Guitart J., Paller A., Chan L.S. Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti. Clin Exp Immunol 2002; 127: 3: 470-478.
Fusco F., Pescatore A., Bal E., Ghoul A., Paciolla M., Lioi M.B. Alterations of the IKBKG locus and diseases: An update and a report of 13 novel mutations. Hum Mutat 2008; 29: 595-604.
Van Leeuwen R.L., Wintzen M., van Praag M.C. Incontinentia pigmenti: an extensive second episode of a 'first-stage' vesicobullous eruption. Pediatric Dermatol 2000; 17: 70-72.
Rothenberg M.E. Eotaxin: an essential mediator of eosinophil trafficking into mucosal tissues. Am J Respir Cell Mol Biol 1999; 21: 291-295.
Shuper A., Bryan R.N., Singer H.S. Destructive encephalopathy in incontinentia pigmenti: a primary disorder? Pediatr Neurol 1990; 6: 137-140.
Hennel A., Ekert P.G., Volpe J.J., Inder T.E. Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti. Pediatr Neurol 2003; 29: 148-150.