Hypomelanosis of Ito. A possibly under-diagnosed heterogeneous neurocutaneous syndrome;Hipomelanosis de Ito. Un síndrome neurocutáneo heterogéneo y posiblemente infradiagnosticado

Revista de Neurologia

Volumn 38, Issue 3, 2004, Pages 223-228

  Gomez Lado C ^a   Eirís Puñal, Jesús ^a   Blanco Barca, O ^a   Del Rio Latorre E ^a   Fernandez Redondo V ^a   Castro Gago, M ^a  

^a Instituto de Salud Carlos III   (Spain)

Author keywords

Achromic nevus; Dysmorphic traits; Hypomelanosis of Ito; Incontinentia pigmenti achromians; Neurocutaneous syndrome; Psychomotor retardation

Indexed keywords

ADOLESCENT; AGE; ANAMNESIS; ARTICLE; AUTISM; CHILD; CHOANA ATRESIA; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; COARSE FACE; COLON DILATATION; CONGENITAL HEART DISEASE; CONTROLLED STUDY; CRYPTORCHISM; DISEASE ASSOCIATION; DISEASE SEVERITY; EAR MALFORMATION; EYE DISEASE; FAMILY HISTORY; FEMALE; HUMAN; HYPOACUSIS; HYPOMELANOSIS; INCONTINENTIA PIGMENTI; INGUINAL HERNIA; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCULOSKELETAL DISEASE; NEUROLOGIC DISEASE; NEURORADIOLOGY; PHAKOMATOSIS; PRECOCIOUS PUBERTY; PSYCHOMOTOR RETARDATION; RISK FACTOR; SEIZURE; SEX DIFFERENCE; VESICOURETERAL REFLUX;

EID: 17544384841     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.3803.2003618     Document Type: Article

References (28)

1. Ito M. Studies of melanin. XI: Incontinentia pigmenti achromians, a singular case of nevus despigmentosus systematicus bilateralis. Tohoku J Exp Med 1952; 55 (Suppl 55): 57-9.
2. Pascual-Castroviejo I, Roche C, Martínez-Bermejo A, Arcas J, López-Martín V, Tendero A, et al. Hypomelanosis of Ito. A study of 76 infantile cases. Brain Dev 1998; 20: 36-43.
3. Pascual-Castroviejo I. Hipomelanosis de Ito. Neurología 1997; 12: 38-42.
4. Hypomelanosis of Ito [editorial]. Lancet 1992; 339: 651-2.
5. Ruggieri M, Pavone L. Hypomelanosis of Ito: clinical syndrome or just a phenotype? J Child Neurol 2000; 15: 635-44.
6. 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: 1-10.
7. Sola-Casas MA, Salleras-Redonnet M. Síndromes neurocutá neos discrómicos. Rev Neurol 1997; 25 (Supl 3): S259-64.
8. Hermida-Prieto A, Eirís Puñal J, Álvá rez-Moreno A, Alonso-Martín A, Barreiro Conde J, Castro-Gago M. Hipomelanosis de Ito: autismo, dilatación segmentaria del colon y hallazgo inusual en neuroimagen. Rev Neurol 1997; 25: 71-4.
9. Gordon N. Hypomelanosis of Ito (incontinentia pigmenti achromians). Dev Med Child Neurol 1994; 36: 271-4.
10. Glover MT, Brett EM, Atherton DJ. Hypomelanosis of Ito: Spectrum of the disease. J Pediatr 1989; 115: 79-80.
11. Batistella PA, Peserico A, Bertoli P, Drigo P, Laverda AM, Casara GL. Hypomelanosis of Ito and hemimegalencephaly. Childs Nerv Syst 1990; 6: 421-3.
12. Zapella M. Autism and hypomelanosis of Ito in twins. Dev Med Child Neurol 1993; 35: 826-32.
13. Akefeldt A, Gillberg C. Hypomelanosis of Ito in three cases with autism and autistic-like conditions. Dev Med Child Neurol 1991; 33: 737-43.
14. Esquivel MC, Pitt MC, Boyd SG. EEG findings in hypomelanosis of Ito. Neuropediatrics 1991; 22: 216-9.
15. Tagawa T, Futagi Y, Arai H, Mushiake S, Nakayama M. Hypomelanosis of Ito associated with hemimegalencephaly: a clinicopathological study. Pediatr Neurol 1997; 17: 180-4.
16. Fujino O, Hashimoto K, Fujita T, Enokido H, Komatsuzaki H, Asano G, et al. Clinico-neuropathological study of incontinentia pigmenti achromians -an autopsy case. Brain Dev 1995; 17: 425-7.
17. Ishikawa T, Kanayama M, Sugiyama K, Katoh T, Wada Y. Hypomelanosis of Ito associated with benign tumors and chromosomal abnormalities: a neurocutaneus syndrome. Brain Dev 1985; 7: 45-9.
18. 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: 407-12.
19. Ruggieri M, Tigano G, Mazzone D, Tiné A, Pavone L. Involvement of the white matter in hypomelanosis of Ito (incontinentia pigmenti achromians). Neurology 1996; 46: 485-92.
20. Pini G, Faulkner LB. Cerebellar involvement in hypomelanosis of Ito. Neuropediatrics 1995; 26: 208-10.
21. Nieto-Barrera M, Tort MT, Rodríguez-Caña T. Aspectos neurológicos de la hipomelanosis. An Esp Pediatr 1988; 28: 311-4.
22. Tomás M, Collar JI, Muñoz MJ, Paricio JM, Silgo E. Hipomelanosis de Ito. A propósito de un caso. Rev Esp Pediatr 1991; 47: 89-91.
23. Urguellés E, Pascual-Castroviejo I, Roche C, Herná ndez-Moneo JL, Martínez MA, Vega A. Arteriovenous malformation in hypomelanosis of Ito. Brain Dev 1996; 18: 78-80.
24. Echenne BP, Leboucq N, Humbertclaude V. Ito hypomelanosis and Moya-Moya disease. Pediatr Neurol 1995; 13: 179-81.
25. Griebel V, Krägeloh-Mann I, Michaelis R. Hypomelanosis of Ito. Report of four cases and survey of the literature. Neuropediatrics 1989; 20: 234-7.
26. Rufo M, Sierra J. Facomatosis con discromías cutáneas extensas: incontinentia pigmenti, nevo acrómico. Rev Neurol 1996; 24: 1060-7.
27. Donnai D. Hypomelanosis of Ito. Lancet 1992; 339: 819-20.
28. Koiffman CP, De Souza DH, Diament A, Ventura HB, Alves RS, Kihara S, et al. Incontinentia pigmenti achromians (hypomelanosis of Ito, MIM 146150): further evidence of localization at Xp 11. Am J Med Genet 1993; 46: 529-33.