Abstract
Six well established archetypical patterns of cutaneous mosaicismcan be distinguished. The best known pattern is the system of Blaschko’s lines. Analogous linear or sectorial patterns of mosaicism have been documented in other human organs such as the bones, the teeth, the lens, and the retina. Moreover, the hereditary trait brindle as noted in dogs, cattle, horses and other mammals represents a perfect counterpart of the human lines of Blaschko. - The checkerboard pattern is characterized by flag-like or block-like patches. In the phylloid pattern, the leaf-like or oblong macules are reminiscent of the floral ornaments of Jugendstil or art nouveau. Large round patches without midline separation are the archetypical pattern of giant melanocytic nevi. A peculiar pattern of lateralization is noted in the X-linked dominant, male-lethal trait, CHILD syndrome. The sash-like pattern, as documented in children with cutis tricolor of the Ruggieri-Happle type, is characterized by large oblique hyper- or hypopigmented macules reminiscent of a sash, and by large round or flag-like areas of hyper- or hypopigmention. This pattern does not respect the dorsal and ventral midline.
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References
Alexander A, Blaschko A (1895) Ein Fall von Naevus linearis (Ichthyosis linearis) unius lateris. Dermatol Zeitschr 2:343–361
Alfonso-Trujillo I, Arteaga-Hernandez E, Perez-Suarez JC (2009) Eccrine spiradenoma in a zosteriform distribution: presentation of a case. Actas Dermosifiliogr 100:619–620
Babilas P, Schreml S, Landthaler M, Vogt T (2009) A 12-month-old boy with impaired pigmentation. Diagnosis: nevus depigmentosus. Pediatr Ann 38:617–621
Balmer R, Cameron AC, Ades L, Aldred MJ (2004) Enamel defects and Lyonization in focal dermal hypoplasia. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 98:686–691
Blaschko A (1895) Bemerkungen zu vorstehendem Aufsatz [Alexander A (1985) Ein Fall von Naevus linearis (Ichthyosis linearis) unius lateris. Dermatol Zeitschr 2:343–361]. Dermatol Zeitschr 2:361–372
Blaschko A (1901) Die Nervenverteilung in der Haut in ihrer Beziehung zu den Erkrankungen der Haut. Beilage zu den Verhandlungen der Deutschen Dermatologischen Gesellschaft, VII. Congress zu Breslau im Mai 1901. Wien und Leipzig, Braumüller
Bolognia JL, Orlow SJ, Glick SA (1994) Lines of Blaschko. J Am Acad Dermatol 31:157–190; quiz 190–192
Born G, Grützner P, Hemminger H (1976) Evidence for reduced colour vision in carriers of congenital colour vision deficiencies (author’s transl). Hum Genet 32:189–196
Carol WLL (1944) Leerboek der Huidziekten. Scheltema & Holkema’s Boekhandel en Uitgeversmaatschappij, Amsterdam
Cattanach BM, Wolfe HG, Lyon MF (1972) A comparative study of the coats of chimaeric mice and those of heterozygotes for X-linked genes. Genet Res 19:213–228
Cattanach BM (2005) Finding the gene for brindle. Boxer Ring 2:28–32
Curth HO, Warburton D (1965) The genetics of incontinentia pigmenti. Arch Dermatol 92:229–235
Danarti R, Bittar M, Happle R, König A (2003) Linear atrophoderma of Moulin: postulation of mosaicism for a predisposing gene. J Am Acad Dermatol 49:492–498
Elston DM (1999) Zosteriform distribution of acantholytic dyskeratotic epidermal nevus? J Am Acad Dermatol 40:647
Engelman DE, Kotz EA 3rd, Maize JC Sr (2007) Linear cutaneous lupus erythematosus in the lines of Blaschko. Pediatr Dermatol 24:125–129
Englander L, Emer JJ, McClain D, Amin B, Turner RB (2011) A rare case of multiple segmental eccrine spiradenomas. J Clin Aesthet Dermatol 4:38–44
Faletra F, Berti I, Tommasini A, Pecile V, Cleva L, Alberini E, Bruno I, Gasparini P (2012) Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis. Dermatology 225:294–297
Findlay GH, Moores PP (1980) Pigment anomalies of the skin in the human chimaera: their relation to systematized naevi. Br J Dermatol 103:489–498
Fitzgerald PH, Donald RA, Kirk RL (1979) A true hermaphrodite dispermic chimera with 46, XX and 46, XY karyotypes. Clin Genet 15:89–96
Gilmore S, Maini P (2006) Viewpoint 3 in: what is the biological basis of pattern formation in skin lesions? Exp Dermatol 15:557–559
Gilmore SJ (2010) Patterns in naevoid skin disease: development, disease and modelling. Exp Dermatol 19:240–245
González-Enseñat MA, Vicente A, Poo P, Catalá V, Pérez-Iribarne MM, Fuster C, Geán E, Happle R (2009) Phylloid hypomelanosis and mosaic partial trisomy 13: two cases that provide further evidence of a distinct clinicogenetic entity. Arch Dermatol 145:576–578
Haensch R (1961) Eczema and neural factors. Observations in polyneuroradiculitis. Arch Klin Exp Dermatol 214:35–40
Hamilton C (2006) One in a million. Am Quarter Horse J 52–55
Happle R (1976) Genetic mechanisms giving rise to linear skin lesions. Joint meeting of the Vereinigung Südwestdeutscher Dermatologen and the Vereinigung Rheinisch-Westfälischer Dermatologen, Heidelberg, 8–10 Oct
Happle R (1977) Genetic significance of Blaschko’s lines. Z Hautkr 52:935–944
Happle R, Lenz W (1977) Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism? Br J Dermatol 96:133–135
Happle R (1978) Genetic interpretation of linear skin abnormalities. Hautarzt 29:357–363
Happle R, Küchle HJ (1983) Sectorial cataract: a possible example of lyonisation. Lancet 2:919–920
Happle R (1987) The lines of Blaschko: a developmental pattern visualizing functional X-chromosome mosaicism. Curr Probl Dermatol 17:5–18
Happle R (1993) Pigmentary patterns associated with human mosaicism: a proposed classification. Eur J Dermatol 3:170–174
Happle R (2000) Phylloid hypomelanosis is closely related to mosaic trisomy 13. Eur J Dermatol 10:511–512
Happle R, Assim A (2001) The lines of Blaschko on the head and neck. J Am Acad Dermatol 44:612–615
Happle R (2002) Transposable elements and the lines of Blaschko: a new perspective. Dermatology 204:4–7
Happle R (2010) Phylloid hypermelanosis: an unusual form of pigmentary mosaicism. Dermatology 220:183–185
Happle R (2010) Giant melanocytic nevus may be explained as a superimposed patchy manifestation of a polygenic trait. Dermatology 221:30–33
Happle R, Franco-Guío MF, Santacoloma-Osorio G (2012) Phylloid hypermelanosis: a cutaneous marker of several different disorders? Pediatr Dermatol. doi:10.1111/pde.12053
Jackson R (1976) The lines of Blaschko: a review and reconsideration: observations of the cause of certain unusual linear conditions of the skin. Br J Dermatol 95:349–360
Jaenisch R (1985) Mammalian neural crest cells participate in normal embryonic development on microinjection into post-implantation mouse embryos. Nature 318:181–183
Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Minaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Ades LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP (2009) Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet 41:95–100
Kerns JA, Cargill EJ, Clark LA, Candille SI, Berryere TG, Olivier M, Lust G, Todhunter RJ, Schmutz SM, Murphy KE, Barsh GS (2007) Linkage and segregation analysis of black and brindle coat color in domestic dogs. Genetics 176:1679–1689
Kinsler VA, Thomas AC, Ishida M, Bulstrode NW, Loughlin S, Hing S, Chalker J, McKenzie K, Abu-mero S, Slater O, Chanudet E, Palmer R, Morrogh D, Stanier P, Healy E, Sebire NJ, Moore GE (2013) Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by post-zygotic mutations in codon 61 of NRAS. J Invest Dermatol. doi:10.1038/jid.2013.70
Koniszewski G, Rott HD (1985) The Lyon effect of the lens: findings in the carriers of X chromosome-linked cataract and in Lowe syndrome. Klin Monbl Augenheilkd 187:525–528
Kucera GT, Bortner DM, Rosenberg MP (1996) Overexpression of an Agouti cDNA in the skin of transgenic mice recapitulates dominant coat color phenotypes of spontaneous mutants. Dev Biol 173:162–173
Lapunzina P, Gairí A, Delicado A, Mori MA, Torres ML, Goma A, Navia M, Pajares IL (2004) Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review. Am J Med Genet A 130A:45–51
Lenz W (1970) Medizinische Genetik: Grundlagen, Ergebnisse und Probleme, 2nd edn. Thieme, Stuttgart
Lenz W (1975) Half chromatid mutations may explain incontinentia pigmenti in males. Am J Hum Genet 27:690–691
Macdonald RH, Sims RT (1969) Linear lesions. Br J Dermatol 81:72–79
Mascaró JM, Torres V, Mascaro-Galy C, Botella R (1976) Un cas de fibromatose juvénile linéaire à tendance progressive et ulcéreuse. Bull Soc Fr Dermatol Syph 83:278–279
Meyer CH, Freyschmidt-Paul P, Happle R, Kroll P (2004) Unilateral linear hyperpigmentation of the skin with ipsilateral sectorial hyperpigmentation of the retina. Am J Med Genet A 126A:89–92
Meyer CH, Rodrigues EB, Mennel S, Schmidt JC, Kroll P (2005) Grouped congenital hypertrophy of the retinal pigment epithelium follows developmental patterns of pigmentary mosaicism. Ophthalmology 112:841–847
Mintz B (1967) Gene control of mammalian pigmentary differentiation. I. Clonal origin of melanocytes. Proc Natl Acad Sci U S A 58:344–351
Montgomery DW (1901) The cause of the streaks in naevus linearis. J Cutan Genitourin Dis 19:455–464
Moss C, Savin J (1995) Dermatology and the new genetics. Blackwell Science Ltd, Osney Mead, Oxford
Moss C (1999) Cytogenetic and molecular evidence for cutaneous mosaicism: the ectodermal origin of Blaschko lines. Am J Med Genet 85:330–333
Oiso N, Tsuruta D, Imanishi H, Sayasa H, Narita T, Kobayashi H, Ikegami H, Kawada A (2010) Phylloid hypermelanosis and melanocytic nevi with aggregated and disfigured melanosomes: causal relationship between phylloid pigment distribution and chromosome 13 abnormalities. Dermatology 220:169–172
Perdu B, de Freitas F, Frints SG, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, de Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B, Vanhoenacker FM, Van Hul W (2010) Osteopathia striata with cranial sclerosis due to WTX gene defect. J Bone Miner Res 25:82–90
Rott HD, Koniszewski G (1987) Analogy of Blaschko lines in the eye. J Genet Hum 35:19–27
Rott HD, Lang GE, Huk W, Pfeiffer RA (1990) Hypomelanosis of Ito (incontinentia pigmenti achromians). Ophthalmological evidence for somatic mosaicism. Ophthalmic Paediatr Genet 11:273–279
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, Roggini M, Kennerknecht I, Polizzi A, Distefano A, Pavone V (2011) Spectrum of skeletal abnormalities in a complex malformation syndrome with “cutis tricolor” (Ruggieri-Happle syndrome). Acta Paediatr 100:121–127
Siegel DH (2008) Cutaneous mosaicism: a molecular and clinical review. Adv Dermatol 24:223–244
Siemens HW (1948) Algemene Dermatologie: Diagnostiek en Therapie. Scheltema & Holtema’s Boekhandel en Uitgeversmatschappij, Amsterdam
Siemens HW (1952) Allgemeine Diagnostik und Therapie der Hautkrankheiten: als Einführung in die Dermatologie für Studierende und Praktiker. Springer, Berlin
Stevanovic D (1977) Multiple, continuous and progressive fibromatosis (author’s transl). Ann Dermatol Venereol 104:141–146
Tan SS, Breen S (1993) Radial mosaicism and tangential cell dispersion both contribute to mouse neocortical development. Nature 362:638–640
Tan SS, Faulkner-Jones B, Breen SJ, Walsh M, Bertram JF, Reese BE (1995) Cell dispersion patterns in different cortical regions studied with an X-inactivated transgenic marker. Development 121:1029–1039
Töndury G (1964) Embryologie und Hauttopographie. Arch Klin Exp Dermatol 219:12–24
Torrelo A, Baselga E, Nagore E, Zambrano A, Happle R (2005) Delineation of the various shapes and patterns of nevi. Eur J Dermatol 15:439–450
Warnke PH, Russo PA, Schimmelpenning GW, Happle R, Harle F, Hauschild A, Sherry E, Luttges J, Terheyden H, Dunsche A, Springer IN (2005) Linear intraoral lesions in the sebaceous nevus syndrome. J Am Acad Dermatol 52:62–64
Witkop CJ Jr (1967) Partial expression of sex-linked recessive amelogenesis imperfecta in females compatible with the Lyon hypothesis. Oral Surg Oral Med Oral Pathol 23:174–182
Yoshida A, Takahashi K, Maeda F, Akasaka T (2010) Multiple vascular eccrine spiradenomas: a case report and published work review of multiple eccrine spiradenomas. J Dermatol 37:990–994
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Happle, R. (2014). Six Archetypical Patterns. In: Mosaicism in Human Skin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-38765-4_5
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