A Clinical Classification of Pigmentary Disorders

Chapter
Part of the Updates in Clinical Dermatology book series (UCD)

Abstract

Pigmentary disorders include a large number of heterogeneous conditions that can be congenital or acquired. In this chapter a clinical approach to the pigmentary disorders is proposed. An attempt has been made to include most known disorders that lead to the discolouration of the skin (including melanin as well as non-melanin pigmentation). The disorders are classified as hypopigmented/depigmented, hyperpigmented and mixed pigmentation (hypopigmented and hyperpigmented), which can have their onset in early childhood or in later childhood through to adulthood. They can manifest as generalized and diffuse pigmentation or circumscribed lesions. Clinical findings including the degree of pigment loss or colour of pigment change, lesional morphology, associated extracutaneous signs and organ involvement are used to distinguish the disorders further. It is particularly important to have a systematic approach for the pigmentary disorders as the causes are heterogeneous, investigations (including histopathology) are not typically diagnostic, and the genetic basis of many congenital pigmentary disorders is still not known. This classification provides a systematic approach for the diagnosis of pigmentary disorders, allowing appropriate counselling and specific treatment where available.

Keywords

Pigmentary disorders Hypopigmented Depigmented Hyperpigmented Mixed pigmentation Classification Hyperchromia Hypochromia Dyschromia Pigmentation 

References

  1. 1.
    Fistarol SK, Itin PH. Disorders of pigmentation. JDDG. 2010;8:187–202.CrossRefGoogle Scholar
  2. 2.
    Nordlund JJ, Boissy RE. The biology of melanocytes. In: Freinkel RK, Woodley DT, editors. The biology of the skin. New York: Parthenon Publishing; 2001. p. 113–31.Google Scholar
  3. 3.
    Anstey AV. Disorders of skin colour. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook’s textbook of dermatology. West Sussex: Wiley; 2010. p. 58.1–58.59.Google Scholar
  4. 4.
    Park HY, Pongpudpunth M, Lee J, Yaar M. Biology of melanocytes. In: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, editors. Fitzpatrick’s dermatology in general medicine. US: The McGraw-Hill Companies; 2008. p. 591–608.Google Scholar
  5. 5.
    Bolognia JL, Orlow SJ. Melanocyte biology. In: Bolognia JL, Jorizzo JL, Schaffer JV, editors. Dermatology. US: Elselvier Limited; 2012. p. 1011–22.Google Scholar
  6. 6.
    Nieuweboer-Krobotova L. Hyperpigmentation: types, diagnostics and targeted treatment options. 2012;27(1):2–4.Google Scholar
  7. 7.
    Ortonne JP, Passeron T. Vitiligo and other disorders of hypopigmentation. In: Bolognia JL, Jorizzo JL, Schaffer JV, editors. Dermatology. US: Elselvier Limited; 2012. p. 1023–48.Google Scholar
  8. 8.
    Passeron T, Ortonne JP. Atlas of pigmentary disorders (eBook). Switzerland: Springer International Publishing; 2016.CrossRefGoogle Scholar
  9. 9.
    Allen CM, Camisa C. Oral disease. In: Bolognia JL, Jorizzo JL, Schaffer JV, editors. Dermatology. US: Elselvier Limited; 2012. p. 1149–70.Google Scholar
  10. 10.
    Halder RM, Taliaferro SJ. Vitiligo. In: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, editors. Fitzpatrick’s dermatology in general medicine. US: The McGraw-Hill Companies; 2008. p. 616–22.Google Scholar
  11. 11.
    Mollet I, Ongenae K, Naeyaert JM. Origin, clinical presentation, and diagnosis of hypomelanotic skin disorders. Dermatol Clin. 2007;25:363–71.CrossRefGoogle Scholar
  12. 12.
    Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). Retrieved from http://www.ncbi.nlm.nih.gov/omim/
  13. 13.
    Kumarasinghe P, Chio MTW. Pigmentary disorders. In: Goh CL, Chua SH, Ng SK, editors. The Asian skin. A reference colour atlas of dermatology. Singapore: McGraw-Hill Education; 2005. p. 48–74.Google Scholar
  14. 14.
    Tey HL. Approach to hypopigmentation disorders in adults. J Clin Exp Dermatol. 2010;35:829–34.CrossRefGoogle Scholar
  15. 15.
    Tey HL. A practical classification of childhood hypopigmentation disorders. Acta Derm Venereol. 2010;90:6–11.CrossRefGoogle Scholar
  16. 16.
    Lahiri K, Chatterjee M, Sarkar R. Pigmentary disorders. A comprehensive compendium. 1st ed. New Delhi: Jaypee Brothers Medical Publishers (P) Ltd; 2014.Google Scholar
  17. 17.
    Kumarasinghe P, Hewitt D. Neoplasms with pigmentary changes or discolouration. In: Lahiri K, Chatterjee M, Sarkar R, editors. Pigmentary disorders. A comprehensive compendium. 1st ed. New Delhi: Jaypee Brothers Medical Publishers (P) Ltd; 2014. p. 95–6.Google Scholar
  18. 18.
    Vachiramon V. Approach to reticulate hyperpigmentation. J Clin Exp. Dermatol. 2011;36:459–66.CrossRefGoogle Scholar
  19. 19.
    Tadini G, Brena M, Gelmetti C, Pezzani L. Atlas of genodermatoses. 2nd ed. Florida: CRC Press; 2015.CrossRefGoogle Scholar
  20. 20.
    Hornyak TJ. Albinism and other genetic disorders of pigmentation. In: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, editors. Fitzpatrick’s dermatology in general medicine. US: The McGraw-Hill Companies; 2008. p. 608–16.Google Scholar
  21. 21.
    Hua C, Boussemart L, Mateus C, Routier E, Boutros C, Cazenave H, et al. Association of vitiligo with tumour response in patients with metastatic melanoma treated with Pembrolizumab. JAMA Dermatol. 2016;152(1):45–51.CrossRefGoogle Scholar
  22. 22.
    Sonthalia S, Daulatabad D, Sarkar R. Glutathione as a skin whitening agent: facts, myths, evidence and controversies. Indian J Dermatol Venereol Leprol. 2016;82:262–72.CrossRefGoogle Scholar
  23. 23.
    Lapeere H, Boone B, De Schepper S, Verhaeghe E, Ongenae K, Van Geel N, et al. Hypomelanosis and hypermelanosis. In: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, editors. Fitzpatrick’s dermatology in general medicine. US: The McGraw-Hill Companies; 2008. p. 622–40.Google Scholar
  24. 24.
    Change MW. Disorders of hyperpigmentation. In: Bolognia JL, Jorizzo JL, Schaffer JV, editors. Dermatology. US: Elselvier Limited; 2012. p. 1049–74.Google Scholar
  25. 25.
    Gupta D, Chandrashekar L, Larizza L, Colombo E, Fontana L, Gervasini C, et al. Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib. Int. J. Dermatol. 2017;56:195–201.CrossRefGoogle Scholar
  26. 26.
    Ho JC, Chan YC, Giam YC, Ong BH, Kumarasinghe SP. Flexural pigmentation with multiple lentigines: a new primary pigmentary disorder? Br J Dermatol. 2006;154(2):382–4.CrossRefGoogle Scholar
  27. 27.
    Hernández-Martín A, Gilliam AE, Baselga E, Vicente A, Lam J, González-Enseñat M, et al. Hyperpigmented macules on the face of young children: a series of 25 cases. J Am Acad Dermatol. 2014;70:288–90.CrossRefGoogle Scholar
  28. 28.
    Berk DR, Tapia B, Lind A, Bayliss SJ. Sock-line hyperpigmentation: case series and literature review. Arch Dermatol. 2007;143:428–30.PubMedGoogle Scholar
  29. 29.
    Park JH, Lee DJ, Lee YJ, Jang YH, Kang HY, Kim YC. Acquired bilateral telangiectatic macules: a distinct clinical entity. JAMA Dermatol. 2014;150:974–7.CrossRefGoogle Scholar
  30. 30.
    Kumarasinghe SP. Understanding macular pigmentation of uncertain aetiology. Indian J Dermatol Venereol Leprol. 2015;81:581–3.PubMedGoogle Scholar
  31. 31.
    Perez-Bernal A, Munoz-Perez MA, Camacho F. Management of facial hyperpigmentation. Am J Clin Dermatol. 2000;1(5):261–8.CrossRefGoogle Scholar
  32. 32.
    Mirsky L, Watters K, Jafarian F. Chronic hyperpigmented scaly plaques. Pityriasis rotunda. Arch Dermatol. 2012;148(9):1073–8.CrossRefGoogle Scholar
  33. 33.
    Seghers AC, Lee JS, Tan CS, Koh YP, Ho MS, Lim YL, et al. Atopic dirty neck or acquired atopic hyperpigmentation? An epidemiological and clinical study from the National Skin Centre in Singapore. Dermatology. 2014;229(3):174–82.CrossRefGoogle Scholar
  34. 34.
    Ho J, Bhawan J. Mimickers of classic acantholytic diseases. J Dermatol. 2017;44(3):232–42.CrossRefGoogle Scholar
  35. 35.
    McCormack CJ, Cowen P. Harber’s syndrome. Australas J Dermatol. 1997;38(2):82–4.CrossRefGoogle Scholar
  36. 36.
    Rebora A, Crovato F. Pigmentatio reticularis faciei et colli. Arch Dermatol. 1985;121(8):968.CrossRefGoogle Scholar
  37. 37.
    Rather S, Yaseen A, Mukhija M. Erythromelanosis follicularis faciei et colli – a cross-sectional, descriptive study. Indian J Dermatol. 2016;61(3):308–13.CrossRefGoogle Scholar
  38. 38.
    Kim JY, GN O, Seo SH, Ahn HH, Kye YC, Choi JE. Progressive cribriform and zosteriform hyperpigmentation. Cutis. 2015;96(1):E4–6.PubMedGoogle Scholar
  39. 39.
    Ruggieri M, Polizzi A, Schepis C, Morano M, Strano S, et al. Cutis tricolor: a literature review and report of five new cases. Quant Imaging Med Surg. 2016;6(5):525–34.CrossRefGoogle Scholar
  40. 40.
    Mahon C, Oliver F, Purvis D, Agnew K. Amyloidosis cutis dyschromica in two siblings and review of the epidemiology, clinical features and management in 48 cases. Australas J Dermatol. 2016;57(4):307–11. CrossRefGoogle Scholar
  41. 41.
    Harmelin Y, Cardot-Leccia N, Ortonne JP, Bahadoran P, Lacour JP, et al. Localized depigmentation on genital melanosis. Br J Dermatol. 2013;168(3):663–4.CrossRefGoogle Scholar
  42. 42.
    Romero-Mate A, Minano-Medrano R, Najera-Botello L, Castano-Pascual A, Martiinez-Moran C, et al. Reticulate genital pigmentation associated with localized vitiligo. Arch Dermatol. 2010;146(5):574–5.CrossRefGoogle Scholar
  43. 43.
    Bloom B, Marchbein S, Fischer M, Kamino H, Patel R, et al. Poikilodermatous mycosis fungoides. Dermatol Online J. 2012;18(12):4.PubMedGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of DermatologyFiona Stanley HospitalMurdochAustralia
  2. 2.Department of DermatologyFiona Stanley Hospital and University of Western AustraliaPerthAustralia

Personalised recommendations