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Heterogeneous seizure manifestations in Hypomelanosis of Ito: report of four new cases and review of the literature

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Abstract

Hypomelanosis of Ito (HI) is a rare neuroectodermal disorder often associated with mental retardation and epilepsy. We report on four new HI patients presenting with heterogeneous seizure manifestations and we review the literature concerning epileptic seizures in HI. At one extreme, there are patients with generalized seizures well controlled by drug treatment, whereas at the opposite there are patients with severe, often pharmacoresistant, focal seizures. The genetic substrate for HI syndrome is not homogenous and only partially understood. Further researches are required to shed light on the pathogenesis of HI phenotypes.

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References

  1. Ito M (1952) Studies of melanin: XI. Incontinentia pigmenti achromiens: a singular case of nevus depigmentosus systematicus bilateralis. Tohoku J Exp Med 55:55–57

    Google Scholar 

  2. Pascual-Castroviejo I (1989) Hypomelanosis de Ito. Alteraciones neurológicas en una serie de 48 casos. In: Pascual-Castroviejo (ed) Trastornos neuroectodérmicos. JR Prous, Barcelona, pp 127–137

  3. Pascual-Castroviejo I, Lopez-Rodriguez L, de la Cruz Medina M, Salamanca-Maesso C, Roche Herrero C (1998) Hypomelanosis of Ito. Neurological complications in 34 cases. Can J Neurol Sci 5:124–129

    Google Scholar 

  4. Bolognia JL, Orlow SJ, Glick SA (1994) Lines of Blaschko. J Am Acad Dermatol 31:157–190

    Article  CAS  PubMed  Google Scholar 

  5. Nehal KS, PeBenito R, Orlow SJ (1996) Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko. Arch Dermatol 132:1167–1170

    Article  CAS  PubMed  Google Scholar 

  6. Ruggieri M, Pavone L (2000) Hypomelanosis of Ito: clinical syndrome or just phenotype? J Child Neurol 15:635–644

    Article  CAS  PubMed  Google Scholar 

  7. Browne RM, Byrne JP (1976) Dental dysplasia in incontinentia pigmenti achromians (Ito). An unusual form. Br Dent J 140:211–214

    Article  CAS  PubMed  Google Scholar 

  8. Riyaz A, Riyaz N, Anoop P, Chandni B, Noushad K (2004) Hemihypertrophy and primary small intestinal lymphangiectasia in incontinentia pigmenti achromians. Indian J Pediatr 71:947

    Article  CAS  PubMed  Google Scholar 

  9. Ruiz-Maldonado R, Toussaint S, Tamayo L, Laterza A, del Castillo V (1992) Hypomelanosis of Ito: diagnostic criteria and report of 41 cases. Pediatr Dermatol 9:1–10

    Article  CAS  PubMed  Google Scholar 

  10. Weaver RG Jr, Martin T, Zanolli MD (1991) The ocular changes of incontinentia pigmenti achromians (hypomelanosis of Ito). J Pediatr Ophthalmol Strabismus 28:160–163

    PubMed  Google Scholar 

  11. Ishikawa T, Kanayama M, Sugiyama K, Katoh T, Wada Y (1985) Hypomelanosis of Ito associated with benign tumors and chromosomal abnormalities: a neurocutaneous syndrome. Brain Dev 7:45–49

    PubMed  Google Scholar 

  12. Pascual-Castroviejo I, Roche C, Martinez-Bernejo A et al (1998) Hypomelanosis of ITO: a study of 76 infantile cases. Brain Dev 20:36–43

    Article  CAS  PubMed  Google Scholar 

  13. Hara M, Kozasa M, Mituisi Y, Yajima K, Saito K, Fukuyama Y (1989) Ito syndrome (hypomelanosis of Ito) as a cause of intractable epilepsy. In: Pascual-Castroviejo I (ed) Trastornos neuroectodérmicos. JR Prous, Barcelona, pp 221–225

    Google Scholar 

  14. Placantonakis DG, Ney G, Edgar M, Souweidane M, Hosain S, Schwartz TH (2005) Neurosurgical management of medically intractable epilepsy associated with hypomelanosis of Ito. Epilepsia 6:329–331

    Article  Google Scholar 

  15. Fleury P, Dingemans K, De Groot WP et al (1986) Ito’s hypomelanosis (incontinentia pigmenti achromians). A review of four cases. Clin Neurol Neurosurg 88:39–44

    Article  CAS  PubMed  Google Scholar 

  16. Ruggieri M, Tigano G, Mazzone D, Tine A, Pavone L (1996) Involvement of the white matter in hypomelanosis of Ito (incontinentia pigmenti achromiens). Neurology 46:485–492

    CAS  PubMed  Google Scholar 

  17. Garcia-Muret MP, Puig L, Allard C, Alomar A (2002) Hypomelanosis of Ito with Sturge-Weber syndrome-like leptomeningeal angiomatosis. Pediatr Dermatol 19:536–540

    Article  PubMed  Google Scholar 

  18. Miller CA, Parker WD Jr (1985) Hypomelanosis of Ito: association with a chromosomal instability. Neurology 35:607–610

    CAS  PubMed  Google Scholar 

  19. Tagawa T, Otani K, Futagi Y, Arai H, Mushiake S, Nakayama M (1994) Hypomelanosis of Ito associated with hemimegalencephaly. Brain Dev 26:518–521

    CAS  Google Scholar 

  20. Ono J, Harada K, Kodaka R, Ishida M, Okada S (1997) Regional cortical dysplasia associated with suspected hypomelanosis of Ito. Pediatr Neurol 17:252–254

    Article  CAS  PubMed  Google Scholar 

  21. Ross DL, Liwnicz BH, Chun RW, Gilbert E (1982) Hypomelanosis of Ito (incontinentia pigmenti achromians): a clinicopathologic study: macrocephaly and gray matter heterotopias. Neurology 32:1013–1016

    CAS  PubMed  Google Scholar 

  22. Dunn V, Mock T, Bell WE, Smith W (1986) Detection of heterotopic gray matter in children by magnetic resonance imaging. Magn Reson Imaging 4:33–39

    Article  CAS  PubMed  Google Scholar 

  23. Williams DW, Elster AD (1990) Cranial MR imaging in Hypomelanosis of Ito. J Comput Assist Tomogr 14:981–983

    Article  PubMed  Google Scholar 

  24. Urgellés E, Pascual-Castroviejo I, Roche C, Hernandez Moneo JL, Martinez MA, Vega A (1996) Arteriovenous malformation in hypomelanosis of Ito. Brain Dev 18:78–80

    Article  PubMed  Google Scholar 

  25. Steiner J, Adamsbaum C, Desguerres I, Lalande G, Raynaud F, Ponsot G, Kalifa G (1996) Hypomelanosis of Ito and brain abnormalities: MRI findings and literature review. Pediatr Radiol 26:763–768

    Article  CAS  PubMed  Google Scholar 

  26. Fan PC, Wang PJ, Huang SF, Shen YZ (1994) Hypomelanosis of Ito associated with West syndrome: a report of a case. J Formos Med Assoc 93:429–432

    CAS  PubMed  Google Scholar 

  27. Esquivel EE, Pitt MC, Boyd SG (1991) EEG findings in hypomelanosis of Ito: spectrum of the disease. Neuropediatrics 22:216–219

    Article  CAS  PubMed  Google Scholar 

  28. Eussen BH, Bartalini G, Bakker L et al (2000) An unbalanced submicroscopic translocation t(8;16) (q24.3; p13.3), pat associated with tuberous sclerosis complex, adult polycystic kidney disease and hypomelanosis of Ito. J Med Genet 37:287–291

    Article  CAS  PubMed  Google Scholar 

  29. Muhammed K, Mathew J (2007) Coexistence of two neurocutaneous syndromes: tuberous sclerosis and hypomelanosis of Ito. Indian J Dermatol Venereol Leprol 73:43–45

    Article  CAS  PubMed  Google Scholar 

  30. Flannery DB (1990) Pigmentary dysplasias, hypomelanosis of Ito, and genetic mosaicism. Am J Med Genet 35:18–21

    Article  CAS  PubMed  Google Scholar 

  31. Sybert VP, Pagon RA, Donlan M, Bradley CM (1990) Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito. J Pediatr 116:581–586

    Article  CAS  PubMed  Google Scholar 

  32. Koiffmann CP, de Souza DH, Diament A et al (1993) Incontinentia pigmenti achromians (Hypomelanosis of Ito, MIM 146 150): further evidence of localization at Xp11. Am J Med Genet 46:529–533

    Article  CAS  PubMed  Google Scholar 

  33. Hatchwell E, Robinson D, Crolla JA, Cockwell AE (1996) X, inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X; 17 translocation: evidence for functional disomy of Xp. J Med Genet 33:216–220

    Article  CAS  PubMed  Google Scholar 

  34. Sybert VP (1994) Hypomelanosis of Ito: a description, not a diagnosis. J Invest Dermatol 103:141–143

    Article  Google Scholar 

  35. Moss C, Burn J (1988) Genetic counselling in hypomelanosis of Ito: case report and review. Clin Genet 34:109–115

    CAS  PubMed  Google Scholar 

  36. Donnai D, McKeown C, Andrews T, Read AP (1986) Diploid/triploid mixoploidy and hypomelanosis of Ito. Lancet 21:1443–1444

    Article  Google Scholar 

  37. Donnai D, Read AP, McKeown C, Andrews T (1988) Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. J Med Genet 25:809–818

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Centre Saint-Paul, Hôpital Henri Gastaut, Marseille, France

    Komi Assogba, Nathalie Villeneuve & Pierre Genton

  2. IRCCS Centro Neurolesi “Bonino Pulejo”, Messina, Italy

    Edoardo Ferlazzo, Placido Bramanti & Edoardo Sessa

  3. Muscular and Neurodegenerative Disease Unit, “G. Gaslini” Institute, University of Genoa, Genoa, Italy

    Pasquale Striano

  4. Division of Child Neurology and Psychiatry, University of Messina, Messina, Italy

    Tiziana Calarese

  5. Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Plovdiv, Bulgaria

    Ivan Ivanov & Iliana Pacheva

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  1. Komi Assogba
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  2. Edoardo Ferlazzo
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  3. Pasquale Striano
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  4. Tiziana Calarese
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  5. Nathalie Villeneuve
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  6. Ivan Ivanov
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  7. Placido Bramanti
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  10. Pierre Genton
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Correspondence to Edoardo Ferlazzo.

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Assogba, K., Ferlazzo, E., Striano, P. et al. Heterogeneous seizure manifestations in Hypomelanosis of Ito: report of four new cases and review of the literature. Neurol Sci 31, 9–16 (2010). https://doi.org/10.1007/s10072-009-0160-5

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  • DOI: https://doi.org/10.1007/s10072-009-0160-5

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