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Hypomelanosis of Ito: a round on the frequency and type of epileptic complications

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Abstract

There is an ample evidence that hypopigmentation of the skin along the Blaschko’s lines is frequently associated with neurological disorders. Nowadays, the term “Hypomelanosis of Ito” (HI) is applied when, together with the cutaneous lesions, various and multisystem organs are involved. Among these, the most frequent are cerebral manifestations, such as cognitive delay and epileptic seizures. For this reason, hypomelanosis of Ito has been included in the group of neurocutaneous syndromes, neurologic manifestations being one of the most frequent. Epileptic seizures have been reported in patients with this disorder, but in a very few particular attention has been focused on the type and frequency of epilepsy and on the response to the treatment. Herein, we report on five patients with HI who showed episodes of epileptic seizures with onset in childhood, in absence of malformative anomalies except for the skin lesions. A survey on the frequency and types of epileptic seizures in HI children and in the literature is reported.

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References

  1. Happle R (1993) Mosaicism in human skin. Understanding the patterns and mechanisms. Arch Dermatol 129:1460–1470

    Article  CAS  PubMed  Google Scholar 

  2. Happle R (1998) Incontinentia pigmenti versus hypomelanosis of Ito: the whys and wherefores of a confusing issue. Am J Med Genet 79:64–65

    Article  CAS  PubMed  Google Scholar 

  3. Ito M (1952) Studies of melanin XI. Incontinentia pigmenti achromians: a singular case of nevus depigmentosus systematicus bilateralis. Tohoku Exper Med 55(suppl):57–59

    Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  5. Taibjee SM, Bennett DC, Moss C (2004) Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes. B J Dermatol 151:269–282

    Article  CAS  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. Küster W, König A (1999) Hypomelanosis of Ito: no entity, but a cutaneous sign of mosaicism. Am J Med Genet 85:346–350

    Article  PubMed  Google Scholar 

  8. Jelinek JE, Bart RS, Shiff GM (1973) Hypomelanosis of Ito (“Incontinentia pigmenti achromians”). Arch Dermatol 107:596–601

    Article  CAS  PubMed  Google Scholar 

  9. Pascual-Castroviejo I, Lopez Martin V, Tendero A, Martinez Bermejo A, Lopez-Terradas JM, Roche C et al (1989) Epidemiología y experiencia personal de los trastornos neuroectodérmicos. In: Pascual-Castroviejo I (ed) Trastornos Neuroectodérmicos. JR Prous, Barcelona, pp 1–71

    Google Scholar 

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

    Article  CAS  Google Scholar 

  11. Zappella M (1993) Autism and hypomelanosis of Ito in twins. Develop Med Child Neurol 35:826–832

    Article  CAS  PubMed  Google Scholar 

  12. 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 

  13. Nehal KS, Pe Benito 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 

  14. Ruggieri M (2000) Familial hypomelanosis of Ito: implications for genetic counseling. Am J Med Genet 95:82–84

    Article  CAS  PubMed  Google Scholar 

  15. Edelstein S, Naidich TP, Newton TH (2004) The rare phakomatoses. Neuroimaging Clin N Am 14:185-217, vii

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

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  18. Turleau C, Taillard F, Doussau de Bezignan M, Delépine N, Desbois JC, de Grouchy J (1984) Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15 q1. Hum Genet 74:185–187

    Article  Google Scholar 

  19. Ardinger HH, Bell WE (1986) Hypomelanosis of Ito Wood’s light and magnetic resonance imaging as diagnostic measures. Arch Neurol 43:848–850

    Article  CAS  PubMed  Google Scholar 

  20. Malherbe V, Pariente D, Tardieu M, Lacroix C, Venencie PY, Hibon D et al (1993) Central nervous system lesions in hypomelanosis of Ito: an MRI and pathological study. J Neurol 240:302–304

    Article  CAS  PubMed  Google Scholar 

  21. 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 

  22. Schwartz MF, Esterly NB, Fretzin DF, Pergament E, Rozenfeld IH (1977) Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome. J Pediatr 90:236–240

    Article  PubMed  Google Scholar 

  23. Fleury P, Dingemans K, de Groot WP, Oranje AP, Voûte PA, Woerdeman MJ 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 

  24. Glover MT, Brett EM, Atherton DJ (1989) Hypomelanosis of Ito: spectrum of the disease. J Pediatr 115:75–80

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  27. Pascual-Castroviejo I, Roche MC, Martinez Fernandez V, Pérez-Romero M, Escudero RM, Garcia-Peñas JJ et al (1994) Incontinentia pigmenti: MR demonstration of brain changes. Am J Neuroradiol 115:1521–1527

    Google Scholar 

  28. Ruggieri V, Granama N, Palacios C (1998) Nervous system involvement in 30 children with Hypomelanosis of Ito. Brain Dev 20:372

    Google Scholar 

  29. Pavone L, Ruggieri M, Spalice A, Pavone P, Savasta S, Iannetti P (2006) “Hypomelanosis of Ito”. In: Curatolo P, Riva D (eds) Neurocutaneous Syndromes in children, John Libbey Eurotext, pp. 25-32

  30. Assogba K, Ferlazzo E, Striano P, Calarese T, Villeneuve N, Ivanov I et al (2010) Heterogeneous seizure manifestations in Hypomelanosis of Ito: report of four new cases and review of the literature. Neurol Sci 31:9–16

    Article  PubMed  Google Scholar 

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Acknowledgments

The authors wish to thank Prof. Mike Wilkinson who assisted in the proof-reading of the manuscript.

Conflict of interest

The authors have no financial disclosures or conflicts of interest to declare concerning this manuscript.

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Authors and Affiliations

  1. Unit of Pediatrics and Pediatric Emergency “Costanza Gravina”, University-Hospital “Vittorio Emanuele, Policlinic”, University of Catania, Via Santa Sofia 78, Catania, Italy

    Piero Pavone & Andrea Domenico Praticò

  2. Department of Educational Sciences, University of Catania, Catania, Italy

    Martino Ruggieri & Raffaele Falsaperla

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  1. Piero Pavone
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  2. Andrea Domenico Praticò
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  3. Martino Ruggieri
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  4. Raffaele Falsaperla
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Correspondence to Andrea Domenico Praticò.

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Pavone, P., Praticò, A.D., Ruggieri, M. et al. Hypomelanosis of Ito: a round on the frequency and type of epileptic complications. Neurol Sci 36, 1173–1180 (2015). https://doi.org/10.1007/s10072-014-2049-1

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  • DOI: https://doi.org/10.1007/s10072-014-2049-1

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