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Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1

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Summary

Hypomelanosis of Ito (incontinentia pigmenti achromians), a sacrococcygeal complex dysembryoma, seizures, severe cerebral lesions, mental retardation, chorioretinal atrophy, hemihypotrophy of the body, and skeletal anomalies are reported in a female infant of North African origin. Karyotype analysis revealed mosaicism for a microdeletion of the proximal region of 15q similar to that observed in Willi-Prader syndrome. The possibility of gene assignment of Ito's disease or that it may represent a nonspecific marker for mosaicism are discussed.

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References

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

    Google Scholar 

  • Buzas JW, Sina B, Burnett JW (1981) Hypomelanosis of Ito. Report of a case and review of the literature. J Am Acad Dermatol 4: 195–204

    Google Scholar 

  • de Grouchy J, Turleau C, Doussau de Bazignan M, Maroteaux P, Thibaud D (1985) Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region. Ann Génét (Paris) 28:86–89

    Google Scholar 

  • Flannery DB, Byrd JR, Freeman WE, Perlman SA (1985) A cutaneous marker of chromosomal mosaicism. Am J Hum Genet 37: A93

  • Fujimoto A, Ming SL, Korula SR, Wilson MG (1985) Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of a balanced translocation carrier mother. Am J Med Genet 22:333–342

    Google Scholar 

  • Gilgenkrantz S, Tridon P, Pinel-Briquel N, Beurey I, Weber M (1985) Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11? Ann Génét (Paris) 28:90–92

    Google Scholar 

  • Happle R, Vakilzadeh F (1982) Hamartomatous dental cusps in hypomelanosis of Ito. Clin Genet 21:65–68

    Google Scholar 

  • Hodgson SV, Neville B, Jones RWA, Fear C, Bobrow M (1985) Two cases of X/autosome translocation in females with incontinentia pigmenti. Hum Genet 71:231–234

    Google Scholar 

  • 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

    Google Scholar 

  • Ito M (1951) A singular case of naevus depigmentosus systematicus bilateralis. Nippon Hifuka Gakkai Zasshi 61:31–32

    Google Scholar 

  • Kajii T, Tsukahara M, Fukushima Y, Hata A, Matsuo K, Kuroki Y (1985) Translocation (X;13)(p11.21;q12.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma. Ann Génét (Paris) 28:219–223

    Google Scholar 

  • Miller CA, Parker WD (1985) Hypomelanosis of Ito: association with chromosomal abnormality. Neurology (NY) 35:607–610

    Google Scholar 

  • Pallister PD, Meisner LF, Elejalde BR, Francke Y, Herrmann J, Spranger J, Tiddy W, Inhorn SL, Opitz JM (1977) The Pallister mosaic syndrome. Birth Defects 13:103–110

    Google Scholar 

  • Rosenberg S, Arita FN, Campos C, Alonso F (1984) Hypomelanosis of Ito. Case report with involvement of the central nervous system and review of the literature. Neuropediatrics 15:52–55

    Google Scholar 

  • Takematsu H, Sato S, Igarashi M, Seiji M (1983) Incontinentia pigmenti achromians (Ito). Arch Dermatol 119:391–395

    Google Scholar 

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Turleau, C., Taillard, F., Doussau de Bazignan, M. et al. Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1. Hum Genet 74, 185–187 (1986). https://doi.org/10.1007/BF00282090

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  • DOI: https://doi.org/10.1007/BF00282090

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