Skip to main content
SpringerLink
Log in

Didymotic Skin Disorders

  • Chapter
  • First Online:
Mosaicism in Human Skin

  • 1259 Accesses

Abstract

In the group of didymotic genodermatoses we can distinguish allelic from non-allelic twin spotting. Molecular proof is so far lacking but it is very likely that the concept will be confirmed in the proposed examples of allelic didymosis such as the paired occurrence of nevus flammeus and nevus anemicus, nevus vascularis mixtus representing the hallmark of a recently delineated neurocutaneous syndrome, various forms of cutis tricolor, and paired linear areas of either excessive or absent involvement as noted in Darier disease and epidermolytic ichthyosis of Brocq. By contrast, the possible cases of non-allelic didymosis should be considered with great caution since the etiological concept has now been disproved in phacomatosis pigmentokeratotica and phacomatosis cesioflammea. Future research may show whether the assumption of non-allelic didymosis will be confirmed or falsified in phacomatosis spilorosea or phacomatosis melanorosea.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 119.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 159.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Boente Mdel C, Bazan C, Montanari D (2011) Cutis tricolor parvimaculata in two patients with ring chromosome 15 syndrome. Pediatr Dermatol 28:670–673

    Article  PubMed  Google Scholar 

  2. Buoni S, Zannolli R, de Santi M, Macucci F, Hayek J, Orsi A, Scarinci R, Buscalferri A, Cuccia A, Zappella M, Miracco C (2006) Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defects. Eur J Neurol 13:842–851

    Article  PubMed  CAS  Google Scholar 

  3. Du Chekroun-Le L, Delaporte E, Catteau B, Destée A, Piette F (1998) Phacomatosis pigmentovascularis type II. Eur J Dermatol 8:569–572

    Google Scholar 

  4. Eng AM, Brody P, Rhee HL, Bronson DM (1991) Congenital ichthyosiform erythroderma and epidermal nevus. Int J Dermatol 30:284–287

    Article  PubMed  CAS  Google Scholar 

  5. Graf U, Würgler FE, Katz AJ, Frei H, Juon H, Hall CB, Kale PG (1984) Somatic mutation and recombination test in Drosophila melanogaster. Environ Mutagen 6:153–188

    Article  PubMed  CAS  Google Scholar 

  6. Groesser L, Herschberger E, Sagrera A, Shwayder T, Flux K, Ehmann L, Wollenberg A, Torrelo A, Bagazgoitia L, Diaz-Ley B, Tinschert S, Oschlies I, Siner S, Mickler M, Toll A, Landthaler M, Real FX, Hafner C (2013) Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. J Invest Dermatol 133:1998–2003

    Article  PubMed  CAS  Google Scholar 

  7. Hamm H, Happle R (1986) Mixed vascular nevus: report of 4 cases. Hautarzt 37:388–392

    PubMed  CAS  Google Scholar 

  8. Happle R (1991) Allelic somatic mutations may explain vascular twin nevi. Hum Genet 86:321–322

    Article  PubMed  CAS  Google Scholar 

  9. Happle R, Hoffmann R, Restano L, Caputo R, Tadini G (1996) Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome. Am J Med Genet 65:363–365

    Article  PubMed  CAS  Google Scholar 

  10. 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

    Article  PubMed  CAS  Google Scholar 

  11. Happle R, König A (1999) Dominant traits may give rise to paired patches of either excessive or absent involvement. Am J Med Genet 84:176–177

    Article  PubMed  CAS  Google Scholar 

  12. Happle R (2005) Phacomatosis pigmentovascularis revisited and reclassified. Arch Dermatol 141:385–388

    Article  PubMed  Google Scholar 

  13. Happle R (2011) Didymosis cesioanemica: an unusual counterpart of phacomatosis cesioflammea. Eur J Dermatol 21:471

    PubMed  Google Scholar 

  14. Itin PH, Happle R (2002) Darier disease with paired segmental manifestation of either excessive or absent involvement: a further step in the concept of twin spotting. Dermatology 205:344–347

    Article  PubMed  Google Scholar 

  15. Larralde M, Happle R (2005) Cutis tricolor parvimaculata: a distinct neurocutaneous syndrome? Dermatology 211:149–151

    Article  PubMed  Google Scholar 

  16. Leech SN, Taylor AE, Ramesh V, Birchall D, Ann Lynch S (2004) Widespread capillary malformation associated with global developmental delay and megalencephaly. Clin Dysmorphol 13:169–172

    Article  PubMed  Google Scholar 

  17. Lionetti E, Pavone P, Kennerknecht I, Failla G, Schepis C, De Pasquale R, Pavone L, Ruggieri M (2010) Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with “cutis tricolor”: a study of 14 cases. Neuropediatrics 41:60–65

    Article  PubMed  CAS  Google Scholar 

  18. Niessen RC, Jonkman MF, Muis N, Hordijk R, van Essen AJ (2005) Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47, XX,+7/45, X). Am J Med Genet A 137A:313–322

    Article  PubMed  Google Scholar 

  19. Rodríguez-Pazos L, Gomez-Bernal S, Loureiro M, Toribio J (2011) Type 2 segmental Darier disease with twin spot phenomenon. J Eur Acad Dermatol Venereol 25:496–497

    Article  PubMed  Google Scholar 

  20. 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

    Article  PubMed  CAS  Google Scholar 

  21. 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

    Article  PubMed  Google Scholar 

  22. Ruggieri M, Milone P, Pavone P, Falsaperla R, Polizzi A, Caltabiano R, Fichera M, Gabriele AL, Distefano A, De Pasquale R, Salpietro V, Micali G, Pavone L (2012) 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 158A:2870–2880

    Article  PubMed  Google Scholar 

  23. Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J (2013) Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 368:1971–1979

    Article  PubMed  CAS  Google Scholar 

  24. Spano MA, Frei H, Wurgler FE, Graf U (2001) Recombinogenic activity of four compounds in the standard and high bioactivation crosses of Drosophila melanogaster in the wing spot test. Mutagenesis 16:385–394

    Article  PubMed  CAS  Google Scholar 

  25. Stern C (1936) Somatic crossing over and segregation in Drosophila melanogaster. Genetics 21:625–730

    PubMed  CAS  Google Scholar 

  26. Yusuf SM, Mohammed AZ, Uloko AE (2009) Type 2 segmental Darier’s disease in a twelve-year-old Nigerian male – a case report. Niger J Med 18:413–415

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany

    Rudolf Happle

Authors
  1. Rudolf Happle
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

Copyright information

© 2014 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Happle, R. (2014). Didymotic Skin Disorders. In: Mosaicism in Human Skin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-38765-4_8

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-38765-4_8

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-38764-7

  • Online ISBN: 978-3-642-38765-4

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation