Skip to main content
SpringerLink
Log in

Störungen der Melaninpigmentierung

  • Living reference work entry
  • First Online:
Braun-Falco's Dermatologie, Venerologie und Allergologie

Part of the book series: Springer Reference Medizin ((SRM))

  • 1534 Accesses

Zusammenfassung

Melanin ist ein wichtiges endogenes Pigment der Haut. Es wird dort von speziellen Zellen, den Melanozyten, die der Neuralleiste entstammen, und in speziellen Organellen, den Melanosomen, gebildet. Das Melanin wird an benachbarte Keratinozyten abgegeben. Dieser komplexe Prozess der Melanogenese, ist zum großen Teil genetisch determiniert, allerdings auch von exogenen Reizen beeinflussbar, besonders UV-Strahlung. Störungen der Melaninpigmentierung haben deshalb medizinisch bedeutsame Konsequenzen für die Patienten. Das Spektrum der Erkrankungen, die durch fehlerhafte Funktion der Melanozyten in Bezug auf die Pigmentierung zustande kommt, ist sehr breit und reicht von umschriebenen, generalisierten bis zu universellen angeborenen oder erworbenen Hypopigmentierungen und Hyperpigmentierungen der Haut. Da die durch Melanin determinierte Hautfarbe auch die Identität eines Individuums in seinem jeweiligen soziokulturellen Kontext bestimmt, führen generalisierte Störungen der Melaninpigmentierung nicht selten zu erheblichen psychosozialen Konsequenzen für Patienten.

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

Access this chapter

Log in via an institution

Institutional subscriptions

Similar content being viewed by others

Literatur

Grundlagen

Hypermelanosen

  • Amyere M, Vogt T, Hoo J et al (2011) KITLG mutations cause familial progressive hyper- and hypopigmentation. J Invest Dermatol 131:1234–1239

    Article  CAS  PubMed  Google Scholar 

  • Argos M, Kalra T, Rathouz PJ et al (2010) Arsenic exposure from drinking water, and all-cause and chronic-disease mortalities in Bangladesh (HEALS): a prospective cohort study. Lancet 24:252–258

    Article  Google Scholar 

  • Batycka-Baran A, Baran W, Hryncewicz-Gwozdz A et al (2010) Dowling-Degos disease: case report and review of the literature. Dermatology 220:254–258

    Article  PubMed  Google Scholar 

  • Baykal C, Buyukbabani N, Akinturk S et al (2006) Prurigo pigmentosa: not an uncommon disease in the Turkish population. Int J Dermatol 45:1164–1168

    Article  PubMed  Google Scholar 

  • Hanneken S, Rütten A, Pasternack SM et al (2010) Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. Br J Dermatol 163:197–200

    CAS  PubMed  Google Scholar 

  • Hanneken S, Rütten A, Eigelshoven S et al (2011) Morbus Galli-Galli. Klinische und histopathologische Untersuchung anhand einer Fallserie von 18 Patienten. Hautarzt 62:842–851

    Article  CAS  PubMed  Google Scholar 

  • Hong SP, Ahn SY, Lee WS (2008) Linear and whorled nevoid hypermelanosis: unique clinical presentations and their possible association with chromosomal abnormality inv (9). Arch Dermatol 144:415–416

    PubMed  Google Scholar 

  • Lee AY (2015) Recent progress in melasma pathogenesis. Pigment Cell Melanoma Res 28:648–660

    Article  CAS  PubMed  Google Scholar 

  • Li M, Yang L, Li C et al (2010) Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria. Arch Dermatol Res 302:469–476

    Article  CAS  PubMed  Google Scholar 

  • Lugassy J, McGrath JA, Itin P et al (2008) KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-α-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. J Invest Dermatol 128:1517–1524

    Article  CAS  PubMed  Google Scholar 

  • Sarkar R, Ranjan R, Garg S et al (2016) Periorbital hyperpigmentation: A comprehensive review. J Clin Aesthet Dermatol 9:49–55

    PubMed  PubMed Central  Google Scholar 

  • Shankar K, Godse K, Aurangabadkar S et al (2014) Evidence-based treatment for melasma: expert opinion and a review. Dermatol Ther 4:165–186

    Article  Google Scholar 

  • Stuhrmann M, Hennies HC, Bukhari IA et al (2008) Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23. Clin Genet 73:566–572

    Article  CAS  PubMed  Google Scholar 

  • Wang ZQ, Si L, Tang Q et al (2009) Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. Am J Hum Genet 84:672–677

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Zhang C, Li D, Zhang J et al (2013) Mutations in ABCB6 cause dyschromatosis universalis hereditaria. J Invest Dermatol 133:2221–2228

    Article  CAS  PubMed  Google Scholar 

Hypomelanosen

  • Cavalié M, Ezzedine K, Fontas E et al (2015) Maintenance therapy of adult vitiligo with 0,1 % tacrolimus ointment: a randomized, double blind, placebo-controlled study. J Invest Dermatol 135:970–974

    Google Scholar 

  • Ezzedine K, Eleftheriadou V, Whitton M et al (2015) Vitiligo. Lancet 386:74–84

    Article  PubMed  Google Scholar 

  • Hamzavi I, Jain H, McLean D et al (2004) Parametric modeling of narrowband UV-B phototherapy for vitiligo using a novel quantitative tool: the Vitiligo Area Scoring Index. Arch Dermatol 140:677–683

    Article  PubMed  Google Scholar 

  • Huizing M, Helip-Wooley A, Westbroek W et al (2008) Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet 9:359–386

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Jin Y, Andersen G, Yorgov D et al (2016) Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. Nat Genet 48:1418–1424

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kamaraj B, Purohit R (2014) Mutational analysis of oculocutaneous albinism: a compact review. Biomed Res Int :90547

    Google Scholar 

  • Kaplan J, De Domenico I, Ward DM (2008) Chediak-Higashi syndrome. Curr Opin Hematol 15:22–29

    Article  CAS  PubMed  Google Scholar 

  • O’Keefe GA, Rao NA (2017) Vogt-Koyanagi-Harada disease. Surv Ophthalmol 62:1–25

    Article  PubMed  Google Scholar 

  • Pingault V, Ente D, Dastot-Le Moal F et al (2010) Review and update of mutations causing Waardenburg syndrome. Hum Mutat 31:391–406

    Article  CAS  PubMed  Google Scholar 

  • Relyveld GN, Menke HE, Westerhof W (2007) Progressive macular hypomelanosis: an overview. Am J Clin Dermatol 8:13–19

    Article  PubMed  Google Scholar 

  • van Geel N, Lommerts J, Bekkenk M et al (2016) Development and validation of the vitiligo extent score (VES): an International Collaborative Initiative. J Invest Dermatol 136:978–984

    Article  PubMed  Google Scholar 

  • Van Gele M, Dynoodt P, Lambert J (2010) Griscelli syndrome: a model system to study vesicular trafficking. Pigment Cell Melanoma Res 22:268–282

    Article  Google Scholar 

  • Whitton M, Batchelor JM, Leonardi-Bee J et al (2016) Evidence-based management of vitiligo: summary of a Cochrane systematic review. Br J Dermatol 174:962–969

    Article  CAS  PubMed  Google Scholar 

Erstbeschreiber

  • Bardach H, Gebhart W, Luger T (1982) Genodermatose bei einem Brüderpaar: Morbus Dowling-Degos, Grover, Hailey-Hailey oder Galli-Galli? Hautarzt 33:378–383

    CAS  PubMed  Google Scholar 

  • Beguez César A (1943) Neutropenia cronica maligna familial con granulaciones atipicas de los leucocitos. Bol Soc Cubana Pediatr 15:900–922

    Google Scholar 

  • Brocq L (1923) L’erythrose pigmentée péri-buccale. Presse Med 31:727–728

    Google Scholar 

  • Casala AM, Alezzandrini AA (1959) Vitiligo, poliosis, unilateral con retinitis pigmentaria y hypoacusia. Arch Agrent Dermatol 9:449

    Google Scholar 

  • Chédiak M (1952) Nouvelle anomalie leucocytaire de charactère constitutionel et familial. Rev Hematol (Paris) 7:362–367

    Google Scholar 

  • Chernosky ME, Anderson DE, Chang JP et al (1971) Familial progressive hyperpigmentation. Arch Dermatol 10:581–591

    Article  Google Scholar 

  • Civatte A (1923) Poikilodermie réticulée pigmentaire du visage et du cou. Ann Dermatol Syph 6:605–620

    Google Scholar 

  • Convit J, Kerdel-Vegas F, Rodriguez G (1961) Erythema dyschromicum perstans, a hitherto undescribed skin disease. J Invest Dermatol 36:457–462

    Article  Google Scholar 

  • Costa OC (1951) Leucopathie symétrique progressive des extremités. Ann Dermatol Syph 78:452–454

    CAS  Google Scholar 

  • Cronkhite LS, Canada WJ (1955) Generalized intestinal polyposis: an unusual syndrome of polyposis, pigmentation, alopecia and onychotropia. N Eng J Med 252:1011–1015

    Article  Google Scholar 

  • Cross HE, McKusick VA, Breen W (1967) A new oculocerebral syndrome with hypopigmentation. J Pediatr 70:398–406

    Article  CAS  PubMed  Google Scholar 

  • Cummings K, Cottel W (1966) Idiopathic guttate hypomelanosis. Arch Dermatol 93:184–186

    Article  CAS  PubMed  Google Scholar 

  • Degos R, Ossipowski B (1954) Dermatose pigmentaire réticulées des plis. Ann Dermatol Syph 81:147–151

    CAS  Google Scholar 

  • Degos R, Civatte J, Belaich S (1978) La pigmentation maculeuse eruptive idiopathique. Ann Dermatol Venerol 105:177–182

    CAS  Google Scholar 

  • Dowling GD, Freudenthal W (1938) Acanthosis nigricans. Proc R Soc Med 31:1147–1150

    CAS  PubMed  PubMed Central  Google Scholar 

  • Falabella R, Escobar CE, Carrascal E et al (1988) Leucoderma punctata. J Am Acad Dermatol 18:485–494

    Article  CAS  PubMed  Google Scholar 

  • Fowler T (1786) Medical reports of the effects of arsenic, in the cure of agues, remitting fevers, and periodic headaches. Together with a letter from Dr. Arnold, of Leicester, and another from Dr. Withering. Johnsonn & Brown, London

    Google Scholar 

  • Franceschetti A, Jadassohn W (1954) A propos de „l’incontinenti pigmenti“ limitation de deux syndromes differents figurant sous le même terme. Dermatologica 108:1–28

    Article  CAS  PubMed  Google Scholar 

  • Griscelli C, Durandy A, Guy-Grand D et al (1978) A syndrome associating partial albinism and immunodeficiency. Am J Med 65:691–702

    Article  CAS  PubMed  Google Scholar 

  • Guillet G, Helenon R, Gauthier Y et al (1988) Progressive macular hypomelanosis of the trunk: primary acquired hypopigmentation. J Cutan Pathol 15:286–289

    Article  CAS  PubMed  Google Scholar 

  • Harada E (1926) Beiträge zur klinischen Kenntnis von nichteitriger Choroiditis. Nippon Ganka Gakkai Zasshi 30:356–361

    Google Scholar 

  • Hauss H, Oberste-Lehn H (1958) Dermatopathia pigmentosa reticularis. Dermatol Wochenschr 138:1337

    Google Scholar 

  • Hermansky F, Pudlak P (1959) Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 14:162–169

    CAS  PubMed  Google Scholar 

  • Higashi O (1954) Congenital gigantism of peroxidase granules. Tohoku J Exp Med 59:315–322

    Article  CAS  PubMed  Google Scholar 

  • Hoffmann E, Habermann R (1918) Arzneiliche und gewerbliche Dermatosen durch Kriegserzatzmittel (Vaseline Schmieröl) und eigenartige Melanodermatitiden. Dtsch Med Wochenschr 4:261–264

    Article  Google Scholar 

  • Ichikawa T, Hiraya Y (1933) Über eine noch nicht beschriebene Pigmentanomalie, Dyschromatosis universalis hereditaria Toyama, Ichikawa und Hiraga. Jpn J Dermatol Urol 34:360–364

    Google Scholar 

  • Kalter D, Griffiths S, Hirokawa K (1988) Linear and whorled nevoid hypermelanosis. J Am Acad Dermatol 19:1037–1044

    Article  CAS  PubMed  Google Scholar 

  • Kitamura K, Akamatsu S, Hirokawa K (1953) Eine besondere Form der Akropigmentation: Akropigmentatio reticularis. Hautarzt 4:152–156

    CAS  PubMed  Google Scholar 

  • Klein D (1947) Albinisme partiel (leucisme) accompagné surdi-mutité, d’ostéomyodysplasie, de raideurs articularis congénitales. Arch Julius Klaus Stift Vererbungsforsch Sozialanthropol Rassenhyg 22:336

    CAS  PubMed  Google Scholar 

  • Komaya G (1924) Symmetrische Pigmentanomalie der Extremitäten. Arch Dermatol Syph 147:389–393

    Article  Google Scholar 

  • Koyanagi Y (1929) Dysakusis, Alopecie und Pollinosis bei schwerer Uveitis nicht traumatischen Ursprungs. Klin Monatsbl Augenheilkd 82:194–211

    Google Scholar 

  • Lesser E (1884) Anomalien der Hautfärbung. In: von Ziemssen H (Hrsg) Handbuch der speziellen Pathologie und Therapie, Bd 14/2, Handbuch der Hautkrankheiten. Vogel, Leipzig, S 161–200 (Albinismus partialis: 182–184)

    Google Scholar 

  • Margolis E (1962) A new hereditary syndrome sex-linked deaf mutism associated with total albinism. Acta Genet Statist Med 12:12–19

    CAS  PubMed  Google Scholar 

  • Mason HS (1959) Structure of melanins. In: Gordon M (Hrsg) Pigment Cell Biol. Academic Press, New York, S 563–583

    Chapter  Google Scholar 

  • Matsumoto S (1923) Leucopathia punctate et reticularis symmetrica. Acta Dermatol 2:191–197

    Google Scholar 

  • Meirowsky E (1909) Über Pigmentbildung in vom Körper losgelöster Haut. Frankfurter Z Pathol 2:438–448

    Google Scholar 

  • Morgan J (1786) Some accounts of motley colored or pye Negro and mulatto boy. Trans Am Phil Soc 2:392–395

    Article  Google Scholar 

  • Naegeli O (1927) Familiärer Chromatophorennaevus. Schweiz Med Wochenschr 57:48

    Google Scholar 

  • Nagashima M, Ohshiro A, Shimizu N (1971) A peculiar pruriginous dermatosis with gross reticular pigmentation. Jpn J Dermatol 81:38–39

    Google Scholar 

  • Pearson K, Nettleship E, Usher CH (1911) A monograph on albinism in man; Draper‘s company research memoirs, Biometric series VI. Dula, London

    Google Scholar 

  • Ramirez CO (1957) Los cenicientos, problem clinic. In: Memoria del Primer Congresso Centroamericano de Dermatologie, San Salvador, S 122–130

    Google Scholar 

  • Raper HS (1927) The tyrosinase reaction VI. Production from tyrosine of 5, 6-dihydropindole and 5,6-dihydroxyindole-2-carboxylic acid – the precursors of melanin. Biochem J 21:89–96

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Riehl G (1917) Über eine eigenartige Melanose. Wien Klin Wochenschr 30:780–781

    Google Scholar 

  • Ruiz-Maldonado R, Tamayo L, Fernandez-Diez J (1978) Universal acquired melanosis.The carbon baby. Arch Dermatol 114:775–778

    Article  CAS  PubMed  Google Scholar 

  • Steinbrinck E (1948) Über eine neue Granulationsanomalie der Leukozyten. Dtsch Arch Klin Med 193:577–581

    Google Scholar 

  • Tietz W (1963) A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. Am J Hum Genet 15:259–264

    CAS  PubMed  PubMed Central  Google Scholar 

  • Vogt A (1906) Frühzeitiges Ergrauen der Zilien und Bemerkungen über den sog. plötzlichen Eintritt dieser Veränderung. Klin Monatsbl Augenheilkd 44:228–242

    Google Scholar 

  • Waardenburg P (1948) Dystophia punctorum lacrimalium, blepharophimosis en patiële irisatrophie bij een doofstomme. Ned Tijdschr Geneeskd 92:3463

    CAS  PubMed  Google Scholar 

  • Wende GW, Baukus HH (1919) A hitherto undescribed generalized pigmentation of the skin appearing in infancy in brother and sister. J Cut Dis 37:685–701

    Google Scholar 

  • Westerhof W, Beemer FA, Cormane RH et al (1978) Hereditary congenital hypopigmented and hyperpigmented macules. Arch Dermatol 114:931–936

    Article  CAS  PubMed  Google Scholar 

  • Witkop CJ Jr (1979) Depigmentations of the general and oral tissues and their genetic foundations. Ala J Med Sci 16:330–333

    CAS  PubMed  Google Scholar 

  • Woolf C, Dolowitz DA, Aldous HE (1965) Congenital deafness associated with piebaldness. Arch Otolaryngol 82:244–250

    Article  CAS  PubMed  Google Scholar 

  • Zanardo L, Stolz W, Schmitz G et al (2004) Progressive hyperpigmentation and generalized lentiginosis without associated systemic symptoms: a rare hereditary pigmentation disorder in south-east Germany. Acta Derm Venereol 84:57–60

    Article  PubMed  Google Scholar 

  • Ziprkowski L, Krakowski A, Adarn A et al (1962) Partial albinism and deaf-mutism due to a recessive sex-linked gene. Arch Dermatol 86:530–539

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Klinik für Hautkrankheiten, Universitätsklinikum Münster, Von-Esmarch-Str. 58, 48149, Münster, Deutschland

    Markus Böhm

Authors
  1. Markus Böhm
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Markus Böhm .

Editor information

Editors and Affiliations

  1. Dermatologie und Allergologie, Universitätsklinikum München Klinik und Poliklinik für, München, Bayern, Germany

    Gerd Plewig

  2. Dermatologie und Allergologie, Universitätsklinikum München Klinik und Poliklinik für, München, Bayern, Germany

    Thomas Ruzicka

  3. J.W.Goethe-Universität, Klinik für Dermatologie, Venerologie und Allergologie, Frankfurt, Hessen, Germany

    Roland Kaufmann

  4. Univ.Klinikum Marburg Klinik für Dermatologie und Allergologie, Marburg, Germany

    Michael Hertl

Section Editor information

  1. Klinik und Poliklinik für Dermatologie und Allergologie, Universität München, Frauenlobstr. 9-11, 80337, München, Deutschland

    Thomas Ruzicka

Rights and permissions

Reprints and permissions

Copyright information

© 2017 © Springer-Verlag GmbH Deutschland

About this entry

Cite this entry

Böhm, M. (2017). Störungen der Melaninpigmentierung. In: Plewig, G., Ruzicka, T., Kaufmann, R., Hertl, M. (eds) Braun-Falco's Dermatologie, Venerologie und Allergologie. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49546-9_69-1

Download citation

  • DOI: https://doi.org/10.1007/978-3-662-49546-9_69-1

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-49546-9

  • Online ISBN: 978-3-662-49546-9

  • eBook Packages: Springer Referenz Medizin

Publish with us

Policies and ethics

Search

Navigation