Abstract
The term cutis tricolor describes the combination of congenital hyper- and hypopigmented lesions (in the form of macules, patches or streaks), in close proximity to each other, in a background of normal skin (Baba et al. 2003; Happle 2006; Happle et al. 1997; Khumalo et al. 2001; Ruggieri 2000; Ruggieri et al. 2003, 2000, Seraslan and Atik 2005) This phenomenon has been reported either as an isolated skin disorder (Baba et al. 2003, Khumalo et al. 2001, Ruggieri 2000, Seraslan and Atik 2005) or as a part of a neurocutaneous malformation syndrome (Cutis tricolor syndrome or Ruggieri-Happle syndrome) (POSSUM 2006) in association with multiple congenital anomalies, including facial anomalies, cortical cataract (Ruggieri et al. 2008) neurological (mild hypotonia, mild to moderate mental retardation, epilepsy and EEG abnormalities) and behavioural abnormalities and specific skeletal defects consisting in skull, vertebral and long bones dysplasia (Happle et al. 1997; Ruggieri 2000; Ruggieri et al. 2003, 2008).
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Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JT, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L (2006) Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet A 140: 2730–2741.
Baba M, Seckin D, Akcali C, Happle R (2003) Familial cutis tricolor: a possible example of paradominant inheritance. Eur J Dermatol 13: 343–345.
Battaglia A, Gurrieri F, Bertini E, Bellacosa A, Pomponi MG, Paravatou-Petsotas M, Mazza S, Neri G (1997) The inv dup(15) syndrome: a clinically recognizable syndrome with altered behaviour, mental retardation, and epilepsy. Neurology 48: 1081–1086.
Bruckner AL (2004) Incontinentia pigmenti: a window to the role of NF-kB function. Semin Cut Med Surg 23: 116–124.
Cerruti-Mainardi P, Pastore G, Zweier C, Rauch A (2004) Mowat-Wilson syndrome and mutation in the zinc finger homeobox 1B gene; a well defined clinical entity. J Med Genet 41: el6
Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M (2007) ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat 28: 313–321.
Donnai D (2006) Incontinentia pigmenti and pigmentary mosaicism. In: Harper J, Oranje A, Prose N (eds.) Textbook of Pediatric Dermatology. 2nd ed. Oxford: Blackwell Science, pp. 1237–1247.
Grosshans EM (1999) Acquired Blaschkolinear dermatoses. Am J Med Genet 85: 334–337.
Happle R (1993a) Mosaicism in human skin. Understanding the patterns and mechanisms. Arch Dermatol 129: 13: 170–174.
Happle R (1993b) Pigmentary patterns associated with human mosaicism: a proposed classification. Eur J Dermatol 3: 170–174.
Happle R (1997a) Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity. Am J Med Genet 66: 241–242.
Happle R (1997b) A rule concerning the segmental manifestations of autosomal dominant skin disorders: review of clinical examples providing evidence for dichotomous types of severity. Arch Dermatol 133: 1505–1509.
Happle R (2006) Principles of genetics, mosaicism and molecular biology. In: Harper J, Oranje A, Prose N (eds.) Textbook of Pediatric Dermatology. 2nd ed. Oxford: Blackwell Science, pp. 1221–1246.
Happle R, Barbi G, Eckert D, Kennerknecht I (1997) “Cutis tricolor”: congenital hyper-and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting? J Med Genet 34: 676–678.
Khumalo NP, Joss DV, Huson SM, Burge S (2001) Pigmentary anomalies in ataxia-telangiectasia: a clue to diagnosis and an example of twin spotting. Br J Dermatol 1444: 369–371.
Koopman RJJ (1999) Concept of twin spotting. Am J Med Genet 85: 355–358.
Larralde M, Happle R (2005) Cutis tricolor parvimaculata: a distinct neurocutaneous phenotype? Dermatology 211: 149–151.
Moss C, Savin J (1995) Dermatology and the new genetics. Oxford: Blackwell Science.
Mowat DR, Wilson MJ, Goosens M (2003) Mowat-Wilson syndrome. J Med Genet 40: 305–310.
POSSUM (2006) Pictures of standard syndromes and undiagnosed malformations. Version 7.0. Melbourne: Murdoch Institute for Research into Birth Defects.
Ruggieri M (2000) “Cutis tricolor”: congenital hyper-and hypopigmented lesions in a background of normal skin, with and without associated systemic features: further expansion of the phenotype. Eur J Pediatr 159: 745–749.
Ruggieri M, Pavone L (2000) Hypomelanosis of Ito: clinical syndrome or just phenotype? J Child Neurol 15: 635–644.
Ruggieri M, Iannetti P, Pavone L (2003) Delineation of a newly recognised neurocutaneous malformation syndrome with “cutis tricolor”. Am J Med Genet 120A: 110–116.
Ruggieri M, Iannetti F, Polizzi A, Puzo L, Iannetti L, Di Pietro M, Caltabiano R, Magro G, Iannetti P (2008) Congenital cataract in a newly recognised neurocutaneous malformation syndrome with “cutis tricolor”. Br J Ophthalmol (in press).
Seraslan G, Atik E (2005) Cutis tricolor: two case reports. Case Rep Clin Pract Rev 6: 317–319.
Spitz JL (2005) Genodermatoses. A full-color clinical guide to genetic skin disorders. 2nd ed. Baltimore: Williams & Wilkins.
Sybert VP (1997) Genetic Skin Disorders. New York: Oxford University Press.
Taybi H, Lachman RS (1996) Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasia. 4th ed. St. Louis: Mosby.
Zweier C, Thile CT, Dufke A, Crow YJ, Meinicke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillesen-Kaesbach G, Hudgins L, Kaariainen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mucke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A (2005) Clinical and mutational spectrum of Mowat-Wilson disease. Eur J Med Genet 48: 97–111.
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Ruggieri, M., Roggini, M., Kennerknecht, I., Schepis, C., Iannetti, P. (2008). Cutis Tricolor (Ruggieri-Happle Syndrome). In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_25
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DOI: https://doi.org/10.1007/978-3-211-69500-5_25
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