Download PDF
Journal of Pediatric Neurology 2018; 16(05): 265-275
DOI: 10.1055/s-0038-1667206
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Hypomelanosis of Ito

Andrea D. Praticò
1   Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Italy
2   Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom
,
Federica Sullo
1   Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Italy
,
Agata Polizzi
3   Institute of Neurological Sciences, National Research Council, Catania, Italy
,
Chiara Maria Battaglini
1   Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Italy
,
Carmelo Schepis
4   Unit of Dermatology, Oasi Research Institute - IRCCS, Troina, Enna, Italy
,
Concetta Pirrone
5   Section of Psychology, Department of Educational Sciences, University of Catania, Catania, Italy
,
Francesco Lacarrubba
6   Dermatology Clinic, University of Catania, Catania, Italy
,
Giuseppe Micali
6   Dermatology Clinic, University of Catania, Catania, Italy
,
Franco Dinotta
6   Dermatology Clinic, University of Catania, Catania, Italy
,
Salvatore Savasta
7   Department of Pediatrics, Fondazione Policlinico San Matteo IRCCS, University of Pavia, Pavia, Italy.
,
Elena Commodari
5   Section of Psychology, Department of Educational Sciences, University of Catania, Catania, Italy
,
Stefania Salafia
8   Unit of Pediatrics, Lentini Hospital, Lentini, Italy
,
Antonio Zanghì
9   Department of Medical and Surgical Sciences and Advanced Technology “G.F. Ingrassia,” University of Catania, Catania, Italy
,
Ignacio Pascual-Castroviejo
10   Servicio de Neurología, Hospital Universitario La Paz, Madrid, España
,
Martino Ruggieri
1   Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Italy
› Author Affiliations
Further Information

Publication History

27 December 2017

29 April 2018

Publication Date:
20 August 2018 (online)

Also available at
    Permissions and Reprints

Abstract

Hypomelanosis of Ito (HI) is a congenital neurocutaneous syndrome presenting in the first year of life. It was first described by Ito in 1952 as a purely cutaneous disease presenting with skin hypopigmentation. Several extracutaneous manifestations were later described, and it is now known that several organs can be involved (including brain, muscle, bone, heart, eye, kidney, and teeth) and that the prognosis is strictly related to the number of involved organs. The incidence and prevalence of this syndrome have been estimated to range between 1 in 7,540 births and 1 in 82,000; the disorder affects both the sexes, occurs in all races, and is characterized by depigmentation of the skin along the lines of Blaschko on the trunk and extremities in whorled and linear streaks and patterns. The pathogenesis is unknown, but it is likely to be multifactorial. Several models of inheritance have been proposed but not proved; genetic mosaicism is nowadays the most likely explanation for its inheritance. The differential diagnosis comprises other disorders with hypopigmentation following the lines of Blaschko and thus includes the atrophic/hypopigmented (fourth) stage manifestations of incontinentia pigmenti of the Bloch–Sulzberger type, tuberous sclerosis complex, vitiligo, and skin fungal infections. Consensus recommendations for the screening of associated extracutaneous conditions do not exist and management is symptomatic, but a regular evaluation of somatic growth, neurodevelopment, endocrine status, eyes, and teeth should be performed, and the screening of renal function is also advisable. HI still represents a challenging disorder for the child neurologist and a controversial issue in the medical literature. Awareness of this disorder could allow an early diagnosis and appropriate genetic counseling and screening.

Keywords

hypomelanosis - Ito - lines of Blaschko - neurologic complication - seizures - orthopaedic - mosaic neurocutaneous disorders
 

  • References

  • 1 Pascual-Castroviejo I, Roche C, Martinez-Bermejo A. , et al. Hypomelanosis of Ito. A study of 76 infantile cases. Brain Dev 1998; 20 (01) 36-43
    CrossrefPubMedGoogle Scholar
  • 2 Daniel RT, Meagher-Villemure K, Farmer JP, Andermann F, Villemure JG. Posterior quadrantic epilepsy surgery: technical variants, surgical anatomy, and case series. Epilepsia 2007; 48 (08) 1429-1437
    CrossrefPubMedGoogle Scholar
  • 3 Placantonakis DG, Ney G, Edgar M, Souweidane M, Hosain S, Schwartz TH. Neurosurgical management of medically intractable epilepsy associated with hypomelanosis of Ito. Epilepsia 2005; 46 (02) 329-331
    CrossrefPubMedGoogle Scholar
  • 4 David TJ. Hypomelanosis of Itô: a neurocutaneous syndrome. Arch Dis Child 1981; 56 (10) 798-800
    CrossrefPubMedGoogle Scholar
  • 5 Hara M, Saito K, Yakjima K, Fukuyama Y. Clinical-pathological study on hypomelanosis of Ito: a neurocutaneous syndrome. Brain Dev 1987; 9: 141
    CrossrefPubMedGoogle Scholar
  • 6 Happle R. Lyonization and the lines of Blaschko. Hum Genet 1985; 70 (03) 200-206
    PubMedGoogle Scholar
  • 7 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 2010; 31 (01) 9-16
    PubMedGoogle Scholar
  • 8 Horn D, Rommeck M, Sommer D, Körner H. Phylloid pigmentary pattern with mosaic trisomy 13. Pediatr Dermatol 1997; 14 (04) 278-280
    CrossrefPubMedGoogle Scholar
  • 9 Happle R. Nevi. In: Happle R. , ed. Mosaicism in Human Skin: Understanding Nevi, Nevoid Skin Disorders, and Cutaneous Neoplasia. Berlin/Heidelberg: Springer-Verlag; 2014: 69-108
    Google Scholar
  • 10 Ruggieri M, Praticò AD. Mosaic neurocutaneous phenotypes and their causes. Semin Pediatr Neurol 2015; 22 (04) 207-233
    CrossrefPubMedGoogle Scholar
  • 11 Happle R. Mosaicism in human skin. Understanding the patterns and mechanisms. Arch Dermatol 1993; 129 (11) 1460-1470
    CrossrefPubMedGoogle Scholar
  • 12 Happle R. Pigmentary patterns associated with human mosaicism: a proposed classification. Eur J Dermatol 1993; 3: 170-174
    PubMedGoogle Scholar
  • 13 Happle R. Incontinentia pigmenti versus hypomelanosis of Ito: the whys and wherefores of a confusing issue. Am J Med Genet 1998; 79 (01) 64-65
    CrossrefPubMedGoogle Scholar
  • 14 Küster W, König A. Hypomelanosis of Ito: no entity, but a cutaneous sign of mosaicism. Am J Med Genet 1999; 85 (04) 346-350
    CrossrefPubMedGoogle Scholar
  • 15 Pascual-Castroviejo I, Ruggieri M. Hypomelanosis of Ito and related disorders (pigmentary mosaicism). In: Ruggieri M, Pascual-Castroviejo I, Di Rocco C. , eds. Neurocutaneous Disorders: Phakomatoses and Hamartoneoplastic Syndromes. New York-Wien: Springer-Verlag; 2008: 363-385
    CrossrefGoogle Scholar
  • 16 Pavone V, Signorelli SS, Praticò AD. , et al. Total hemi-overgrowth in pigmentary mosaicism of the (hypomelanosis of) Ito type: eight case reports. Medicine (Baltimore) 2016; 95 (10) e2705
    PubMedGoogle Scholar
  • 17 Cohen III J, Shahrokh K, Cohen B. Analysis of 36 cases of Blaschkoid dyspigmentation: reading between the lines of Blaschko. Pediatr Dermatol 2014; 31 (04) 471-476
    CrossrefPubMedGoogle Scholar
  • 18 Ruggieri M, Mastrangelo M, Spalice A. , et al. Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1. Am J Med Genet A 2011; 155A (03) 582-585
    PubMedGoogle Scholar
  • 19 Pavone P, Praticò AD, Ruggieri M, Falsaperla R. Hypomelanosis of Ito: a round on the frequency and type of epileptic complications. Neurol Sci 2015; 36 (07) 1173-1180
    CrossrefPubMedGoogle Scholar
  • 20 Michiko H, Satio K, Yajima K, Fukuyama Y. Clinico-pathological study on hypomelanosis of Ito. A neurocutaneous syndrome. Brain Dev 1987; 9: 141-153
    CrossrefPubMedGoogle Scholar
  • 21 Griebel V, Krägeloh-Mann I, Michaelis R. Hypomelanosis of Ito--report of four cases and survey of the literature. Neuropediatrics 1989; 20 (04) 234-237
    Article in Thieme ConnectPubMedGoogle Scholar
  • 22 Miller CA, Parker Jr WD. Hypomelanosis of Ito: association with a chromosomal abnormality. Neurology 1985; 35 (04) 607-610
    CrossrefPubMedGoogle Scholar
  • 23 Donnai D, Read AP, McKeown C, Andrews T. Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. J Med Genet 1988; 25 (12) 809-818
    CrossrefPubMedGoogle Scholar
  • 24 Portnoï MF, Boutchneï S, Bouscarat F. , et al. Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q. J Med Genet 1999; 36 (03) 246-250
    PubMedGoogle Scholar
  • 25 Ruggieri M, Iannetti P, Pavone L. Delineation of a newly recognized neurocutaneous malformation syndrome with “cutis tricolor”. Am J Med Genet A 2003; 120A (01) 110-116
    CrossrefPubMedGoogle Scholar
  • 26 Ruggieri M, Iannetti F, Polizzi A. , et al. Cataracts in the setting of a newly recognised neurocutaneous malformation syndrome with cutis tricolor. Br J Ophthalmol 2009; 93: 175-176
    PubMedGoogle Scholar
  • 27 Ruggieri M, Roggini M, Kennerknecht I, Polizzi A, Distefano A, Pavone V. Spectrum of skeletal abnormalities in a complex malformation syndrome with “cutis tricolor” (Ruggieri-Happle syndrome). Acta Paediatr 2011; 100 (01) 121-127
    CrossrefPubMedGoogle Scholar
  • 28 Nicita F, Spalice A, Roggini M. , et al. Complex malformation (Ruggieri-Happle) phenotype with “cutis tricolor” in a 10-year-old girl. Brain Dev 2012; 34 (10) 869-872
    CrossrefPubMedGoogle Scholar
  • 29 Ruggieri M, Polizzi A, Schepis C. , et al. Cutis tricolor: a literature review and report of five new cases. Quant Imaging Med Surg 2016; 6 (05) 525-534
    CrossrefPubMedGoogle Scholar
  • 30 Lionetti E, Pavone P, Kennerknecht I. , et al. Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with “cutis tricolor”: a study of 14 cases. Neuropediatrics 2010; 41 (02) 60-65
    Article in Thieme ConnectPubMedGoogle Scholar
  • 31 Papetti L, Tarani L, Nicita F. , et al. Macrocephaly-capillary malformation syndrome: description of a case and review of clinical diagnostic criteria. Brain Dev 2012; 34 (02) 143-147
    CrossrefPubMedGoogle Scholar
  • 32 Ruggieri M, Milone P, Pavone P. , et al. Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients. Am J Med Genet A 2012; 158A (11) 2870-2880
    CrossrefPubMedGoogle Scholar
  • 33 Ruggieri M, Polizzi A, Strano S. , et al. Mixed vascular nevus syndrome: a report of four new cases and a literature review. Quant Imaging Med Surg 2016; 6 (05) 515-524
    CrossrefPubMedGoogle Scholar
  • 34 Barbagallo M, Ruggieri M, Incorpora G. , et al. Infantile spasms in the setting of Sturge-Weber syndrome. Childs Nerv Syst 2009; 25 (01) 111-118
    CrossrefPubMedGoogle Scholar
  • 35 Ruggieri M, D'Arrigo G, Abbate M, Distefano A, Upadhyaya M. Multiple coronary artery aneurysms in a child with neurofibromatosis type 1. Eur J Pediatr 2000; 159 (07) 477-480
    CrossrefPubMedGoogle Scholar
  • 36 Ruggieri M, Packer RJ. Why do benign astrocytomas become malignant in NF1?. Neurology 2001; 56 (07) 827-829
    CrossrefPubMedGoogle Scholar
  • 37 Ruggieri M, Polizzi A. Choroidal abnormalities and mental retardation in neurofibromatosis type 1. Lancet 2001; 357 (9252): 311-312
    PubMedGoogle Scholar
  • 38 Ruggieri M, Pavone V, Tiné A. , et al. Ossifying fibroma of the skull in a patient with neurofibromatosis type 1. Case report. J Neurosurg 1996; 85 (05) 941-944
    CrossrefPubMedGoogle Scholar
  • 39 Pavone P, Falsaperla R, Ruggieri M. , et al. Clinical course of NMDAr encephalitis and effectiveness of cyclosphosphamide treatment. J Pediatr Neurol 2017; 15: 84-89
    Article in Thieme ConnectPubMedGoogle Scholar
  • 40 Polizzi A, Pavone P, Ciancio E, La Rosa C, Sorge G, Ruggieri M. Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome. J Pediatr Endocrinol Metab 2005; 18 (10) 1019-1025
    CrossrefPubMedGoogle Scholar
  • 41 Ruggieri M. Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): no longer neurofibromatosis type 5 (NF5). Am J Med Genet 2001; 101 (02) 178-180
    CrossrefPubMedGoogle Scholar
  • 42 Matricardi S, Spalice A, Salpietro V. , et al. Epilepsy in the setting of full trisomy 18: a multicenter study on 18 affected children with and without structural brain abnormalities. Am J Med Genet C Semin Med Genet 2016; 172 (03) 288-295
    CrossrefPubMedGoogle Scholar
  • 43 Ruggieri M, Pavone V, De Luca D, Franzò A, Tiné A, Pavone L. Congenital bone malformations in patients with neurofibromatosis type 1 (Nf1). J Pediatr Orthop 1999; 19 (03) 301-305
    Google Scholar
  • 44 Sorge G, Ruggieri M, Polizzi A, Scuderi A, Di Pietro M. SHORT syndrome: a new case with probable autosomal dominant inheritance. Am J Med Genet 1996; 61 (02) 178-181
    CrossrefPubMedGoogle Scholar
  • 45 Polizzi A, Coghill S, McShane MA, Squier W. Acute ataxia complicating Langherans cell histiocytosis. Arch Dis Child 2002; 86 (02) 130-131
    CrossrefPubMedGoogle Scholar
  • 46 Polizzi A, Pavone P, Parano E, Incorpora G, Ruggieri M. Lack of progression of brain atrophy in Aicardi-Goutières syndrome. Pediatr Neurol 2001; 24 (04) 300-302
    CrossrefPubMedGoogle Scholar
  • 47 Distefano G, Praticò AD. Actualities on molecular pathogenesis and repairing processes of cerebral damage in perinatal hypoxic-ischemic encephalopathy. Ital J Pediatr 2010; 36: 63
    CrossrefPubMedGoogle Scholar
  • 48 Pavone P, Praticò AD, Gentile G. , et al. A neurocutaneous phenotype with paired hypo- and hyperpigmented macules, microcephaly and stunted growth as prominent features. Eur J Med Genet 2016; 59 (05) 283-289
    CrossrefPubMedGoogle Scholar
  • 49 Pavone P, Nigro F, Falsaperla R. , et al. Hemihydranencephaly: living with half brain dysfunction. Ital J Pediatr 2013; 39: 3
    CrossrefPubMedGoogle Scholar
  • 50 Pavone P, Praticò AD, Rizzo R. , et al. A clinical review on megalencephaly: a large brain as a possible sign of cerebral impairment. Medicine (Baltimore) 2017; 96 (26) e6814
    PubMedGoogle Scholar
  • 51 Ruggieri M, Roggini M, Spalice A, Addis M, Iannetti P. Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions. Pediatr Neurol 2009; 40 (05) 383-386
    CrossrefPubMedGoogle Scholar
  • 52 Ruggieri M, Polizzi A. From Aldrovandi's “Homuncio” (1592) to Buffon's girl (1749) and the “Wart Man” of Tilesius (1793): antique illustrations of mosaicism in neurofibromatosis?. J Med Genet 2003; 40 (03) 227-232
    CrossrefPubMedGoogle Scholar
  • 53 Ruggieri M, Praticò AD, Caltabiano R, Polizzi A. Rediagnosing one of Smith's patients (John McCann) with “neuromas tumours” (1849). Neurol Sci 2017; 38 (03) 493-499
    CrossrefPubMedGoogle Scholar
  • 54 Ruggieri M, Praticò AD, Scuderi A, Sorge G, Polizzi A. The multiple faces of artwork diagnoses. Lancet Neurol 2017; 16 (06) 417-418
    CrossrefPubMedGoogle Scholar
  • 55 Ruggieri M, Praticò AD, Caltabiano R, Polizzi A. Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: first descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes. Am J Med Genet A 2018; 176 (03) 515-550
    CrossrefPubMedGoogle Scholar
  • 56 Ruggieri M, Praticò AD, Serra A. , et al. Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms. Childs Nerv Syst 2017; 33 (04) 549-560
    CrossrefPubMedGoogle Scholar
  • 57 Ruggieri M, Gabriele AL, Polizzi A. , et al. Natural history of neurofibromatosis type 2 with onset before the age of 1 year. Neurogenetics 2013; 14 (02) 89-98
    CrossrefPubMedGoogle Scholar
  • 58 Ruggieri M, Polizzi A, Spalice A. , et al. The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features. Clin Genet 2015; 87 (05) 401-410
    CrossrefPubMedGoogle Scholar
  • 59 Ruggieri M, Praticò AD, Evans DGE. Diagnosis, management and new therapeutic options in childhood neurofibromatosis type 2 and related disorders. Semin Pediatr Neurol 2015; 22 (04) 240-258
    CrossrefPubMedGoogle Scholar
  • 60 Ruggieri M, Praticò AD, Serra A. , et al. Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies. Acta Otorhinolaryngol Ital 2016; 36 (05) 345-367
    Google Scholar
  • 61 Caltabiano R, Magro G, Polizzi A. , et al. A mosaic pattern of INI1/SMARCB1 protein expression distinguishes schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas. Childs Nerv Syst 2017; 33 (06) 933-940
    CrossrefPubMedGoogle Scholar
  • 62 Ruggieri M, Iannetti P, Clementi M. , et al. Neurofibromatosis type 1 and infantile spasms. Childs Nerv Syst 2009; 25 (02) 211-216
    CrossrefPubMedGoogle Scholar
  • 63 Ito M. Studies on Melanin. XI. Incontinentia pigmenti achromians. A singular Case of nevus depigmentosus systematicus bilateralis. Tohoku J Exp Med 1952; (Suppl. 55) 57-59
    PubMedGoogle Scholar
  • 64 McKusick VA. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. 12th ed. Baltimore, MD: Johns Hopkins University Press; 1998
    Google Scholar
  • 65 Jones KL. , ed. Incontinentia pigmenti syndrome (Bloch–Sulzberger's syndrome). In: Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: W.B. Saunders; 1998: 448-449
    Google Scholar
  • 66 Jelinek JE, Bart RS, Schiff SM. Hypomelanosis of Ito (“incontinentia pigmenti achromians”). Report of three cases and review of the literature. Arch Dermatol 1973; 107 (04) 596-601
    CrossrefPubMedGoogle Scholar
  • 67 Sybert VP. Hypomelanosis of Ito. Pediatr Dermatol 1990; 7 (01) 74-76
    CrossrefPubMedGoogle Scholar
  • 68 Sybert VP. Hypomelanosis of Ito: a description, not a diagnosis. J Invest Dermatol 1994; 103 (5, Suppl): 141S-143S
    CrossrefPubMedGoogle Scholar
  • 69 Ruggieri M, Tigano G, Mazzone D, Tiné A, Pavone L. Involvement of the white matter in hypomelanosis of Ito (incontinentia pigmenti achromiens). Neurology 1996; 46 (02) 485-492
    CrossrefPubMedGoogle Scholar
  • 70 Happle R, Krenz J, Pfeiffer R. Ito's syndrome (incontinentia pigmenti achromians) [in German]. Hautarzt 1976; 27 (06) 286-290
    PubMedGoogle Scholar
  • 71 Donnai D. Pigmentary mosaicism: hypomelanosis of Ito. In: Donnai D, Winter RM. , eds. Congenital Malformation Syndromes. London: Chapman & Hall; 1995: 379-385
    Google Scholar
  • 72 Moss C, Savin J. , eds. Skin development and its disorders In: Dermatology and the New Genetics. Oxford: Blackwell Science; 1995: 1-35
    Google Scholar
  • 73 van Steensel MA, Steijlen PM. Hypomelanosis of Ito: a symptom, not a syndrome. Am J Med Genet 1998; 80 (04) 435
    CrossrefPubMedGoogle Scholar
  • 74 Ruggieri M, Pavone L. Hypomelanosis of Ito: clinical syndrome or just phenotype?. J Child Neurol 2000; 15 (10) 635-644
    CrossrefPubMedGoogle Scholar
  • 75 Ruiz-Maldonado R, Toussaint S, Tamayo L, Laterza A, del Castillo V. Hypomelanosis of Ito: diagnostic criteria and report of 41 cases. Pediatr Dermatol 1992; 9 (01) 1-10
    CrossrefPubMedGoogle Scholar
  • 76 Pascual-Castroviejo I, López-Rodriguez L, de la Cruz Medina M, Salamanca-Maesso C, Roche Herrero C. Hypomelanosis of Ito. Neurological complications in 34 cases. Can J Neurol Sci 1988; 15 (02) 124-129
    PubMedGoogle Scholar
  • 77 Pascual-Castroviejo I. Hypomelanosis of Ito. In: Gomez MR. , ed. Neurocutaneous Diseases: A Practical Approach. Boston, MA: Butterworths; 1987: 85-90
    Google Scholar
  • 78 Ronger S, Till M, Kanitakis J, Balme B, Thomas L. Hypomelanosis of Ito in a girl with Trisomy 13 mosaicism: a cytogenetic study [in French]. Ann Dermatol Venereol 2003; 130 (11) 1033-1038
    PubMedGoogle Scholar
  • 79 Taibjee SM, Bennett DC, Moss C. Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes. Br J Dermatol 2004; 151 (02) 269-282
    CrossrefPubMedGoogle Scholar
  • 80 Donnai D, Read AP. Hypomelanosis of Ito. Lancet 1992; 339 (8796): 819-820
    PubMedGoogle Scholar
  • 81 Ruggieri V, Granana N, Palacios C. , et al. Nervous system involvement in 38 children with hypomelanosis of Ito [Abstract]. Brain Dev 1998; 20: 372
    PubMedGoogle Scholar
  • 82 Pascual-Castroviejo I. Hypomelanosis of Ito. In: Gilman S, Goldstein GW, Waxman SG. , eds. Neurobase. San Diego, CA: Arbor Publishing Corp; 1999: 45-49
    Google Scholar
  • 83 Schwartz Jr MF, Esterly NB, Fretzin DF, Pergament E, Rozenfeld IH. Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome. J Pediatr 1977; 90 (02) 236-240
    CrossrefPubMedGoogle Scholar
  • 84 Glover MT, Brett EM, Atherton DJ. Hypomelanosis of Ito: spectrum of the disease. J Pediatr 1989; 115 (01) 75-80
    CrossrefPubMedGoogle Scholar
  • 85 Meurer M. Pigmentation disorders. Hautarzt 2017; 68 (11) 866
    CrossrefPubMedGoogle Scholar
  • 86 Kromann AB, Ousager LB, Ali IKM. , et al. Pigmentary mosaicism: a review of original literature and recommendations for future handling. Orphanet J Rare Dis. 2018; 13 (01) 39
    CrossrefPubMedGoogle Scholar
  • 87 Hatchwell E. Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis. J Med Genet 1996; 33 (03) 177-183
    CrossrefPubMedGoogle Scholar
  • 88 Devillers C, Quatresooz P, Hermanns-Lê T. , et al. Hypomelanosis of Ito: pigmentary mosaicism with immature melanosome in keratinocytes. Int J Dermatol 2011; 50 (10) 1234-1239
    CrossrefPubMedGoogle Scholar
  • 89 Oiso N, Kawada A. Hypomelanosis of Ito (pigmentary mosaicism of the hypopigmented type) with endoplasmic reticulum stress in melanocytes. J Eur Acad Dermatol Venereol 2017; 31 (02) e77-e79
    CrossrefPubMedGoogle Scholar
  • 90 Ardinger HH, Bell WE. Hypomelanosis of Ito. Wood's light and magnetic resonance imaging as diagnostic measures. Arch Neurol 1986; 43 (08) 848-850
    CrossrefPubMedGoogle Scholar
  • 91 Pavone P, Praticò AD, Falsaperla R. , et al. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes. Ital J Pediatr 2015; 41: 55
    CrossrefPubMedGoogle Scholar
  • 92 Ruggieri M, Rizzo R, Pavone P, Baieli S, Sorge G, Happle R. Temporal triangular alopecia in association with mental retardation and epilepsy in a mother and daughter. Arch Dermatol 2000; 136 (03) 426-427
    CrossrefPubMedGoogle Scholar
  • 93 Spalice A, Ruggieri M, Grosso S. , et al. Dysembryoplastic neuroepithelial tumors: a prospective clinicopathologic and outcome study of 13 children. Pediatr Neurol 2010; 43 (06) 395-402
    CrossrefPubMedGoogle Scholar
  • 94 Paller AS. Pigmentary patterning as a clinical clue of genetic mosaicism. Arch Dermatol 1996; 132 (10) 1234-1235
    CrossrefPubMedGoogle Scholar
  • 95 Khurana A, Singal A, Pandhi D. Hypomelanosis of Ito and multiple naevoid hypertrichosis: rare cutaneous mosaicism. Australas J Dermatol 2014; 55 (02) e29-e32
    CrossrefPubMedGoogle Scholar
  • 96 Esquivel EE, Pitt MC, Boyd SG. EEG findings in hypomelanosis of Ito. Neuropediatrics 1991; 22 (04) 216-219
    Article in Thieme ConnectPubMedGoogle Scholar
  • 97 Fukai K, Ishii M, Wakamatsu K. , et al. Selective decrease of eumelanin in hypopigmented epidermis of hypomelanosis of Ito. Pediatr Dermatol 1994; 11 (03) 261-263
    CrossrefPubMedGoogle Scholar
  • 98 Browne RM, Byrne JPH. Dental dysplasia in incontinentia pigmenti achromians (Ito). An unusual form. Br Dent J 1976; 140 (06) 211-214
    CrossrefPubMedGoogle Scholar
  • 99 Amon M, Menapace R, Kirnbauer R. Ocular symptomatology in familial hypomelanosis Ito. Incontinentia pigmenti achromians. Ophthalmologica 1990; 200 (01) 1-6
    CrossrefPubMedGoogle Scholar
  • 100 Pinol J, Mascarò JM, Romaguera C, Asprer J. Considèrations sur l'incontinentia pigmenti achromians de Ito: a propos de deux nouveaux cas. Bull Soc Fr Dermatol Syphiligr 1969; 76: 533-535
    PubMedGoogle Scholar
  • 101 Weaver Jr RG, Martin T, Zanolli MD. The ocular changes of incontinentia pigmenti achromians (hypomelanosis of Ito). J Pediatr Ophthalmol Strabismus 1991; 28 (03) 160-163
    PubMedGoogle Scholar
  • 102 Donat JF, Walsworth DM, Turk LL. Focal cerebral atrophy in incontinentia pigmenti achromians. Am J Dis Child 1980; 134 (07) 709-710
    PubMedGoogle Scholar
  • 103 Reese PD, Judisch GF. Hypomelanosis of Ito. Arch Ophthalmol 1986; 104 (08) 1136-1137
    CrossrefPubMedGoogle Scholar
  • 104 Pavone P, Praticò AD, Vitaliti G. , et al. Hydranencephaly: cerebral spinal fluid instead of cerebral mantles. Ital J Pediatr 2014; 40: 79
    CrossrefPubMedGoogle Scholar
  • 105 Praticò AD, Falsaperla R, Ruggieri M, Corsello G, Pavone P. Prognostic challenges of SCN1A genetic mutations: report on two children with mild features. J Pediatr Neurol 2016; 14: 82-88
    Article in Thieme ConnectPubMedGoogle Scholar
  • 106 O'Connor KC, Lopez-Amaya C, Gagne D. , et al. Anti-myelin antibodies modulate clinical expression of childhood multiple sclerosis. J Neuroimmunol 2010; 223 (1-2): 92-99
    CrossrefPubMedGoogle Scholar
  • 107 Salpietro V, Polizzi A, Bertè LF. , et al. Idiopathic intracranial hypertension: a unifying neuroendocrine hypothesis through the adrenal-brain axis. Neuroendocrinol Lett 2012; 33 (06) 569-573
    PubMedGoogle Scholar
  • 108 Salpietro V, Polizzi A, Di Rosa G. , et al. Adrenal disorders and the paediatric brain: pathophysiological considerations and clinical implications. Int J Endocrinol 2014; 2014: 282489
    Google Scholar
  • 109 Lionetti E, Francavilla R, Maiuri L. , et al. Headache in pediatric patients with celiac disease and its prevalence as a diagnostic clue. J Pediatr Gastroenterol Nutr 2009; 49 (02) 202-207
    CrossrefPubMedGoogle Scholar
  • 110 Salpietro V, Mankad K, Kinali M. , et al. Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study. J Pediatr Endocrinol Metab 2014; 27 (1–2): 107-115
    Google Scholar
  • 111 Crawford D, Dearmun A. Ito syndrome. Nurs Child Young People 2017; 29 (04) 21
    PubMedGoogle Scholar
  • 112 Ruggieri M. Familial hypomelanosis of Ito: implications for genetic counselling. Am J Med Genet 2000; 95 (01) 82-84
    CrossrefPubMedGoogle Scholar
  • 113 Golden SE, Kaplan AM. Hypomelanosis of Ito: neurologic complications. Pediatr Neurol 1986; 2 (03) 170-174
    CrossrefPubMedGoogle Scholar
  • 114 Ross DL, Liwnicz BH, Chun RWM, Gilbert E. Hypomelanosis of Ito (incontinentia pigmenti achromians)--a clinicopathologic study: macrocephaly and gray matter heterotopias. Neurology 1982; 32 (09) 1013-1016
    CrossrefPubMedGoogle Scholar
  • 115 Steiner J, Adamsbaum C, Desguerres I. , et al. Hypomelanosis of Ito and brain abnormalities: MRI findings and literature review. Pediatr Radiol 1996; 26 (11) 763-768
    CrossrefPubMedGoogle Scholar
  • 116 Nehal KS, PeBenito R, Orlow SJ. Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko. Arch Dermatol 1996; 132 (10) 1167-1170
    CrossrefPubMedGoogle Scholar
  • 117 Fleury P, Dingemans K, de Groot WP. , et al. Ito's hypomelanosis (incontinentia pigmenti achromians). A review of four cases. Clin Neurol Neurosurg 1986; 88 (01) 39-44
    CrossrefPubMedGoogle Scholar
  • 118 Hashimoto K, Enokido H, Koizumi Y. , et al. MRI and autopsy findings of hypomelanosis of Ito with intractable epileptic seizures: report of two cases. Jpn J Psychiatry Neurol 1990; 44 (02) 414-416
    PubMedGoogle Scholar
  • 119 Malherbe V, Pariente D, Tardieu M. , et al. Central nervous system lesions in hypomelanosis of Ito: an MRI and pathological study. J Neurol 1993; 240 (05) 302-304
    CrossrefPubMedGoogle Scholar
  • 120 Taybi H. Hypomelanosis of Ito. In: Taybi H, Lachman RS. , eds. Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 4th ed. St. Louis, MO: Mosby; 1996: 242-243
    Google Scholar
  • 121 Fujino O, Hashimoto K, Fujita T. , et al. Clinico-neuropathological study of incontinentia pigmenti achromians–an autopsy case. Brain Dev 1995; 17 (06) 425-427
    CrossrefPubMedGoogle Scholar
  • 122 Praticò AD, Pavone P, Scuderi MG. , et al. Symptomatic hypocalcemia in an epileptic child treated with valproic acid plus lamotrigine: a case report. Cases J 2009; 2: 7394
    PubMedGoogle Scholar
  • 123 Pratico AD, Ruggieri M, Falsaperla R, Pavone P. A probable topiramate-induced limbs paraesthesia and rigid fingers flexion. Curr Drug Saf 2018; 13 (02) 131-136
    CrossrefPubMedGoogle Scholar
  • 124 Manjila S, Miller BR, Goodman A. , et al. Pharmacoresistant epilepsy in hypomelanosis of Ito: palliative surgical treatment with modified anatomic posterior quadrantic resection. Clin Neurol Neurosurg 2014; 123: 15-17
    CrossrefPubMedGoogle Scholar
  • 125 Hara M, Kozasa M, Mituisi Y, Yajima K, Saito K, Fukuyama Y. Ito syndrome (Hypomelanosis of Ito) as a cause of intractable epilepsy. In: Pascual-Castroviejo I. , ed. Trastornos Neuroectodermicos. Barcelona: JR Prous; 1989: 221-225
    Google Scholar
  • 126 Ogino T, Hata H, Minakuchi E, Iyoda K, Narahara K, Ohtahara S. Neurophysiologic dysfunction in hypomelanosis of Ito: EEG and evoked potential studies. Brain Dev 1994; 16 (05) 407-412
    CrossrefPubMedGoogle Scholar
  • 127 Akefeldt A, Gillberg C. Hypomelanosis of Ito in three cases with autism and autistic-like conditions. Dev Med Child Neurol 1991; 33 (08) 737-743
    PubMedGoogle Scholar
  • 128 Zappella M. Autism and hypomelanosis of Ito in twins. Dev Med Child Neurol 1993; 35 (09) 826-832
    PubMedGoogle Scholar
  • 129 O'Brien G, Yule W. Hypomelanosis of Ito. In: Behavioural Phenotypes. London: Cambridge University Press; 1995: 124-126
    Google Scholar
  • 130 Ruggieri M, Polizzi A, Franzò A. , et al. Speech and language disabilities in association with parietotemporal white matter anomalies in hypomelanosis of Ito: an anatomical substrate for a behavioural phenotype? [Abstract]. Ann Neurol 1996; 40: 312-313
    PubMedGoogle Scholar
  • 131 Winter RM, Baraitser M. The London Dysmorphology Database. Oxford: University Press; 1998
    Google Scholar
  • 132 García Muret MP, Puig L, Allard C, Alomar A. Hypomelanosis of Ito with Sturge-Weber syndrome-like leptomeningeal angiomatosis. Pediatr Dermatol 2002; 19 (06) 536-540
    CrossrefPubMedGoogle Scholar
  • 133 Williams III DW, Elster AD. Cranial MR imaging in hypomelanosis of Ito. J Comput Assist Tomogr 1990; 14 (06) 981-983
    CrossrefPubMedGoogle Scholar
  • 134 Kimura M, Yoshino K, Maeoka Y, Suzuki N. Hypomelanosis of Ito: MR findings. Pediatr Radiol 1994; 24 (01) 68-69
    CrossrefPubMedGoogle Scholar
  • 135 Barkovich AJ. , ed. The phakomatoses. In: Pediatric Neuroimaging. 4th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2005: 440-505
    Google Scholar
  • 136 Edelstein S, Naidich TP, Newton TH. The rare phakomatoses. In: Tortori-Donati P. , ed. Pediatric Neuroradiology: Brain. Berlin: Springer; 2005: 819-854
    Google Scholar
  • 137 Souza PV, Pinto WB, Calente FG. , et al. Hypomelanosis of Ito presenting with adult-onset dementia and marked enlarged Virchow-Robin spaces. Arq Neuropsiquiatr 2015; 73 (04) 366-368
    CrossrefPubMedGoogle Scholar
  • 138 Fryburg JS, Lin KY, Matsumoto J. Abnormal head MRI in a neurologically normal boy with hypomelanosis of Ito. Am J Med Genet 1996; 66 (02) 200-203
    CrossrefPubMedGoogle Scholar
  • 139 Peserico A, Battistella PA, Bertoli P, Drigo P. Unilateral hypomelanosis of Ito with hemimegalencephaly. Acta Paediatr Scand 1988; 77 (03) 446-447
    CrossrefPubMedGoogle Scholar
  • 140 Maria BL, Menkes JH. Neurocutaneous syndromes. In: Menkes JH, Sarnat HB, Maria BL. , eds. Child Neurology. 7th ed. Philadelphia, PA: Lippincott Williams and Wilkins; 2006: 803-828
    Google Scholar
  • 141 Battistella PA, Peserico A, Bertoli P, Drigo P, Laverda AM, Casara GL. Hypomelanosis of Ito and hemimegalencephaly. Childs Nerv Syst 1990; 6 (07) 421-423
    CrossrefPubMedGoogle Scholar
  • 142 Urgelles E, Pascual-Castroviejo I, Roche C, Moneo JL, Martinez MA, Vega A. Arteriovenous malformation in hypomelanosis of Ito. Brain Dev 1996; 18 (01) 78-80
    CrossrefPubMedGoogle Scholar
  • 143 Echenne BP, Leboucq N, Humbertclaude V. Ito hypomelanosis and moyamoya disease. Pediatr Neurol 1995; 13 (02) 169-171
    CrossrefPubMedGoogle Scholar
  • 144 Rafay MF, Al-Futaisi A, Weiss S, Armstrong D. Hypomelanosis of Ito and Moyamoya disease. J Child Neurol 2005; 20 (11) 924-926
    CrossrefPubMedGoogle Scholar
  • 145 Değerliyurt A, Kantar A, Ceylaner S, Aysun S. Hypomelanosis of Ito and Sturge-Weber syndrome without facial nevus: an association or a new syndrome?. Pediatr Neurol 2009; 40 (05) 395-397
    CrossrefPubMedGoogle Scholar
  • 146 Inoue M, Fukuda M, Ishii E, Sayama K. Linear leukoplakia and central nervous system lesions: a clinical clue to the diagnosis of hypomelanosis of Ito. J Pediatr 2015; 167 (03) 771.e1
    PubMedGoogle Scholar
  • 147 Tan ST, Slaney SF, Ashworth G, Poole MD. Hemifacial hypoplasia and hypomelanosis of Ito. J Craniomaxillofac Surg 1995; 23 (05) 274-279
    CrossrefPubMedGoogle Scholar
  • 148 Ruggieri M, Pavone V, Polizzi A. , et al. Tuberculosis of the ankle in childhood: clinical, roentgenographic and computed tomography findings. Clin Pediatr (Phila) 1997; 36 (09) 529-534
    CrossrefPubMedGoogle Scholar
  • 149 Vergine G, Mencarelli F, Diomedi-Camassei F. , et al. Glomerulocystic kidney disease in hypomelanosis of Ito. Pediatr Nephrol 2008; 23 (07) 1183-1187
    CrossrefPubMedGoogle Scholar
  • 150 Gatter N, Hoppe B, Nützenadel F, Waldherr R, Querfeld U. A cutaneous disease with multisystem involvement: hypomelanosis of Ito may be associated with proteinuria, focal segmental glomerulosclerosis and end-stage renal disease. Nephrol Dial Transplant 2007; 22 (06) 1796-1798
    CrossrefPubMedGoogle Scholar
  • 151 Chevalier C, Colon S, Faraj G, Bouvier R, Pinçon JA, Cochat P. Glomerulopathy and hypomelanosis of Ito [in French]. Nephrologie 1997; 18 (04) 125-127
    PubMedGoogle Scholar
  • 152 Eussen BH, Bartalini G, Bakker L. , et al. 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 2000; 37 (04) 287-291
    CrossrefPubMedGoogle Scholar
  • 153 Coward RJM, Risdon RA, Bingham C, Hattersley AT, Woolf AS. Kidney disease in hypomelanosis of Ito. Nephrol Dial Transplant 2001; 16 (06) 1267-1269
    CrossrefPubMedGoogle Scholar
  • 154 Park JM, Kim HJ, Kim T, Chae HW, Kim DH, Lee MG. Sexual precocity in hypomelanosis of Ito: mosaicism-associated case report and literature review. Int J Dermatol 2011; 50 (02) 168-174
    CrossrefPubMedGoogle Scholar
  • 155 Vivas D, García-Guereta L, Bret M. , et al. Images in Cardiovascular Medicine. Hypoplasia of the abdominal aorta and hypomelanosis of Ito: “pseudo-cauda equina” imaging. Circulation 2009; 120 (20) 2025-2026
    CrossrefPubMedGoogle Scholar
  • 156 Bhat RY, Patra S, Varma PV, Prakashini K. Hypomelanosis of Ito with an unusual pulmonary abnormality in an infant. Indian Dermatol Online J 2014; 5 (02) 196-197
    CrossrefPubMedGoogle Scholar
  • 157 Janniger CK. . 2006. Hypomelanosis of Ito. eMedicine. Available at: https://emedicine.medscape.com/article/909996-overview . Accessed December 18, 2017
    PubMedGoogle Scholar
  • 158 Steichen-Gersdorf E, Trawöger R, Duba HC, Mayr U, Felber S, Utermann G. Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17). Hum Genet 1993; 90 (06) 611-613
    PubMedGoogle Scholar
  • 159 Ishikawa T, Kanayama M, Sugiyama K, Katoh T, Wada Y. Hypomelanosis of Ito associated with benign tumors and chromosomal abnormalities: a neurocutaneous syndrome. Brain Dev 1985; 7 (01) 45-49
    CrossrefPubMedGoogle Scholar
  • 160 Turleau C, Taillard F, Doussau de Bazignan M, Delépine N, Desbois JC, de Grouchy J. Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1. Hum Genet 1986; 74 (02) 185-187
    CrossrefPubMedGoogle Scholar
  • 161 Zajac V, Kirchhoff T, Levy ER. , et al. Characterisation of X;17(q12;p13) translocation breakpoints in a female patient with hypomelanosis of Ito and choroid plexus papilloma. Eur J Hum Genet 1997; 5 (02) 61-68
    PubMedGoogle Scholar
  • 162 Happle R, Vakilzadeh F. Hamartomatous dental cusps in hypomelanosis of Ito. Clin Genet 1982; 21 (01) 65-68
    PubMedGoogle Scholar
  • 163 Tateno A, Sasaki S, Tsukimoto I, Mizuno K. A case of incontinentia pigmenti achromians with acute lymphatic leukemia [in Japanese]. Shonika Rinsho 1981; 34: 831-835
    PubMedGoogle Scholar
  • 164 Oguma E, Aihara T, Shimanuki Y. , et al. Hypomelanosis of Ito associated with neuroblastoma. Pediatr Radiol 1996; 26 (04) 273-275
    CrossrefPubMedGoogle Scholar
  • 165 Ruggieri M, Magro G, Ruggieri M, Polizzi A. Tumors and hypomelanosis of Ito. Arch Pathol Lab Med 2001; 125 (05) 599-601
    PubMedGoogle Scholar
  • 166 El-Sawy T, He L, Chiang MF. , et al. Retinoblastoma presenting in a child with hypomelanosis of Ito. Open Ophthalmol J 2011; 5: 55-58
    CrossrefPubMedGoogle Scholar
  • 167 Rubin MB. Incontinentia pigmenti achromians. Multiple cases within a family. Arch Dermatol 1972; 105 (03) 424-425
    CrossrefPubMedGoogle Scholar
  • 168 Moss C, Burn J. Genetic counselling in hypomelanosis of Ito: case report and review. Clin Genet 1988; 34 (02) 109-115
    PubMedGoogle Scholar
  • 169 Masumizu T. Incontinentia pigmenti achromians. Jpn J Dermatol 1963; 73: 303
    PubMedGoogle Scholar
  • 170 Griffiths A, Payne C. Incontinentia pigmenti achromians. Arch Dermatol 1975; 111 (06) 751-752
    CrossrefPubMedGoogle Scholar
  • 171 Flannery DB, Byrd JR, Freeman WE, Perlman SA. Hypomelanosis of Ito: a cutaneous marker of chromosomal masaicism. Am J Hum Genet 1985; 37: A93
    PubMedGoogle Scholar
  • 172 Gupta S, Shah S, Mcgaw A, Mercado T, Zaslav AL, Tegay D. Trisomy 2 mosaicism in hypomelanosis of Ito. Am J Med Genet A 2007; 143A (20) 2466-2468
    CrossrefPubMedGoogle Scholar
  • 173 Ponti G, Pellacani G, Tomasi A. , et al. Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report. J Med Case Reports 2014; 8: 333
    CrossrefPubMedGoogle Scholar
  • 174 Okanari K, Miyahara H, Itoh M. , et al. Hemimegalencephaly in a patient with coexisting trisomy 21 and hypomelanosis of Ito. J Child Neurol 2014; 29 (03) 415-420
    CrossrefPubMedGoogle Scholar
  • 175 Ritter CL, Steele MW, Wenger SL, Cohen BA. Chromosome mosaicism in hypomelanosis of Ito. Am J Med Genet 1990; 35 (01) 14-17
    CrossrefPubMedGoogle Scholar
  • 176 Tunca Y, Wilroy RS, Kadandale JS, Martens PR, Gunther WM, Tharapel AT. Hypomelanosis of Ito and a ‘mirror image’ whole chromosome duplication resulting in trisomy 14 mosaicism. Ann Genet 2000; 43 (01) 39-43
    CrossrefPubMedGoogle Scholar
  • 177 Cappanera S, Passamonti C, Zamponi N. New association between ring chromosome 20 syndrome and hypomelanosis of Ito. Pediatr Neurol 2011; 45 (05) 341-343
    CrossrefPubMedGoogle Scholar
  • 178 Zou YS, Milunsky JM. Developmental disability and hypomelanosis of Ito in a female with 7.3 Mb de novo duplication of Xp11.3-p11.4 and random X inactivation. Am J Med Genet A 2009; 149A (11) 2573-2577
    CrossrefPubMedGoogle Scholar
  • 179 Sacrez R, Gigonnet JM, Stoll C, Grosshans E, Stoebner P. Quatre cas de maladie d'Ito familiale (encephalopathie congenitale et dyschromie): discussion nosologique. [English translation: Four cases of familiar Hypomelanosis of Ito (congenital encephalopathy and dyschromia): nosological discussion]. Rev Int Ped 1970; 7: 5-23
    PubMedGoogle Scholar
  • 180 Grosshans EM, Stoebner P, Bergoend H, Stoll C. Incontinentia pigmenti achromians (ITO). Clinical and histopathological study [in French]. Dermatologica 1971; 142 (02) 65-78
    CrossrefPubMedGoogle Scholar
  • 181 Cram DL, Fukuyama K. Proceedings: unilateral systematized hypochromic nevus. Arch Dermatol 1974; 109 (03) 416
    PubMedGoogle Scholar
  • 182 Patrizi A, Masina M, Varotti C, Procaccianti G, Baruzzi A, Badiali De Giorgi L. Familial hypomelanosis of Ito. Pediatr Dermatol News 1987; 6: 302-305
    PubMedGoogle Scholar
  • 183 Vormittag W, Ensinger C, Raff M. Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians). Clin Genet 1992; 41 (06) 309-314
    PubMedGoogle Scholar
  • 184 Zappella M. Hypomelanosis of Ito is frequently associated with autism. Eur Child Adolesc Psychiatry 1992; 1: 170-177
    CrossrefPubMedGoogle Scholar
  • 185 Sarnat HB, Flores-Sarnat L. Embryology of the neural crest: its inductive role in the neurocutaneous syndromes. J Child Neurol 2005; 20 (08) 637-643
    CrossrefPubMedGoogle Scholar
  • 186 Pellegrino JE, Schnur RE, Kline R, Zackai EH, Spinner NB. Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?. Hum Genet 1995; 96 (04) 485-489
    PubMedGoogle Scholar
  • 187 Failla P, Romano C, Schepis C. Hypomelanosis of Ito: a syndrome requiring a multisystem approach. Australas J Dermatol. 1997; 38 (02) 65-70
    PubMedGoogle Scholar
  • 188 Cavallari V, Ussia AF, Siragusa M, Schepis C. Hypomelanosis of Ito: electron microscopical observations on two new cases. J Dermatol Sci. 1996; 13 (01) 87-92
    CrossrefPubMedGoogle Scholar
  • 189 van Krieken JHJ, Boom BW, Scheffer E. Malignant transformation in a naevus of Ito. A case report. Histopathology 1988; 12 (01) 100-102
    PubMedGoogle Scholar
  • 190 Smahi A, Courtois G, Vabres P. , et al; The International Incontinentia Pigmenti (IP) Consortium. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. Nature 2000; 405 (6785): 466-472
    CrossrefPubMedGoogle Scholar