Pigmentstörungen im Kindesalter

 

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Zusammenfassung

Störungen des Pigmentsystems manifestieren sich häufig bereits im Kindesalter. Während bei Hypomelanosen eine Verminderung des Melanins, z. B. durch defekte Synthese oder Mangel an Melanozyten zugrunde liegt, werden viele Hypermelanosen durch Vermehrung von Melanozyten bzw. verstärkte Speicherung von Melanin hervorgerufen. Die Pathomechanismen sind vielfältig. Unterscheiden lassen sich umschriebene, disseminierte und generalisierte Pigmentstörungen sowie epidermal und dermal gelegene. Sie können erworben sein, wie Vitiligo und postinflammatorische Hypo- und Hyperpigmentierungen, angeboren, wie Naevus depigmentosus und Mongolenfleck, oder durch monogene Erbleiden verursacht sein, wie Piebaldismus und Albinismus. Besondere Bedeutung haben Störungen der Pigmentie-rung im Rahmen von Systemkrankheiten wie neurokutanen Syndromen oder Pigmentmosaiken, da sie Initialsymptom sein und auf assoziierte Manifestationen an anderen Organen hinweisen können. Die vorliegende Arbeit über eine Auswahl angeborener und erworbener Pigmentstörungen im Säuglings- und Kindes-alter stellt besonders jene heraus, die häufig vorkommen und die im Rahmen komplexer Syndrome diagnostisch bedeutsam sind.

Summary

Pigmentary disorders often become evident already in childhood. Hypomelanoses are based on a decrease in melanin content, for example due to defective melanin synthesis or lack of melanocytes, whereas many hypermelanoses are caused by an increase in melanocytes or storage of melanin. The pathomechanisms are manifold. Pigmentary abnormalities may follow a circumscribed, disseminated, or generalized pattern and the pathology may be located in the epidermis or dermis. They may be acquired, as vitiligo and postinflammatory hypo- and hyperpigmentations, congenital, as naevus depigmentosus and Mongolian spot, or caused by monogenic traits, like piebaldism and albinism. Pigmentary lesions are of particular importance in the context of systemic diseases, e. g. neurocutaneous syndromes and pigmentary mosaicism, as they may be the initial sign and indicative for associated abnormalities of other organs. The present work on a selection of congenital or acquired pigmentary disorders in infancy and childhood gives special emphasis to frequent conditions and to findings which are of diagnostic significance in the scope of complex syndromes.

• Literatur

• 1 Alkhateeb A, Fain PR, Thody A. et al. Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families. Pigment Cell Res 2003; 16: 208-214.
  CrossrefPubMedGoogle Scholar
• 2 Barona MI, Arrunátegui A, Falabella R, Alzate A. An epidemiologic case-control study in a population with vitiligo. J Am Acad Dermatol 1995; 33: 621-625.
  CrossrefPubMedGoogle Scholar
• 3 Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002; 47: 169-187.
  CrossrefPubMedGoogle Scholar
• 4 Chiaverini C, Passeron T, Ortonne JP. Treatment of vitiligo by topical calcipotriol. J Eur Acad Dermatol Venereol 2002; 16: 137-138.
  CrossrefPubMedGoogle Scholar
• 5 Falabella R, Barona M, Escobar C. et al. Surgical combination therapy for vitiligo and piebaldism. Dermatol Surg 1995; 21: 852-857.
  PubMedGoogle Scholar
• 6 Fonacier L, Spergel J, Charlesworth EN. et al. Report of the Topical Calcineurin Inhibitor Task Force of the American College of Allergy, Asthma and Immunology and the American Academy of Allergy, Asthma and Immunology. J Allergy Clin Immunol 2005; 115: 1249-1253.
  CrossrefPubMedGoogle Scholar
• 7 Hadj-Rabia S, Froidevaux D, Bodak N. et al. Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol 2003; 139: 1163-1170.
  PubMedGoogle Scholar
• 8 Hartmann A, Hofmann UB, Hoehn H. et al. Postnatal confirmation of prenatally diagnosed trisomy 20 mosaicism in a patient with linear and whorled nevoid hypermelanosis. Pediatr Dermatol 2004; 21: 636-641.
  CrossrefPubMedGoogle Scholar
• 9 Hartmann A, Bröcker EB, Becker JC. Hypopigmentary skin disorders: current treatment options and future directions. Drugs 2004; 64: 89-107.
  CrossrefPubMedGoogle Scholar
• 10 Hartmann A, Lurz C, Hamm H. et al. Narrow-band UVB311 nm vs. broad-band UVB therapy in combination with topical calcipotriol vs. placebo in vitiligo. Int J Dermatol 2005; 44: 736-742.
  CrossrefPubMedGoogle Scholar
• 11 Hartmann A, Zajitschek J, Schuler G. Intense-Pulsed-Light (IPL)-UVB-Lichttherapie: Erste Erfahrungen bei der Behandlung der Vitiligo. J Dtsch Dermatol Ges 2007; 5: 164S.
  CrossrefPubMedGoogle Scholar
• 12 Hartmann A, Bröcker EB, Hamm H. Occlusive treatment enhances efficacy of tacrolimus 0.1 % ointment in adult patients with vitiligo: results of a placebo-controlled 12-months prospective study. Acta Derm Venereol 2008; 88: 474-479.
  CrossrefPubMedGoogle Scholar
• 13 Hartmann A, Bröcker EB, Hamm H. Repigmentation of pretibial vitiligo with calcineurin inhibitors under occlusion. J Dtsch Dermatol Ges 2008; 6: 383-385.
  CrossrefPubMedGoogle Scholar
• 14 Hartmann A, Bröcker EB, Hamm H. Repigmentation of skin and hairs in stable vitiligo by transplantation of autologous melanocytes in fibrin suspension. J Eur Acad Dermatol Venereol 2008; 22: 624-626.
  CrossrefPubMedGoogle Scholar
• 15 Jimbow K, Fitzpatrick TB, Szabo G, Hori Y. Congenital circumscribed hypomelanosis: a characterization based on electron microscopic study of tuberous sclerosis, nevus depigmentosus, and piebaldism. J Invest Dermatol 1975; 64: 50-62.
  CrossrefPubMedGoogle Scholar
• 16 Kwiatkowski DJ, Short MP. Tuberous sclerosis. Arch Dermatol 1994; 130: 348-354.
  CrossrefPubMedGoogle Scholar
• 17 Landau M, Krafchik BR. The diagnostic value of café-au-lait macules. J Am Acad Dermatol 1999; 40: 877-890.
  CrossrefPubMedGoogle Scholar
• 18 Lee SJ, Hann SK, Im S. Sacral spot of infancy. In: Nordlund JJ, Boissy RE, Hearing VJ, King RA, Oetting WS, Ortonne JP. The pigmentary system: physiology and pathophysiology. 2. ed. Malden, Oxford, Carlton: Blackwell Publishing; 2006: 1003-1006.
  Google Scholar
• 19 Lepe V, Moncada B, Castanedo-Cazares JP. et al. A double-blind randomized trial of 0.1 % tacrolimus vs 0.05 % clobetasol for the treatment of childhood vitiligo. Arch Dermatol 2003; 139: 581-585.
  PubMedGoogle Scholar
• 20 Lerner AB, Nordlund JJ. Vitiligo: The loss of pigment in skin, hair and eyes. J Dermatology 1978; 1: 1-8.
  Google Scholar
• 21 Lindelöf B, Hedblad MA, Sigurgeirsson B. On the association between vitiligo and malignant melanoma. Acta Derm Venereol 1998; 78: 483-484.
  CrossrefPubMedGoogle Scholar
• 22 Margolis DJ, Hoffstad O, Bilker W. Lack of association between exposure to topical calcineurin inhibitors and skin cancer in adults. Dermatology 2007; 214: 289-295.
  CrossrefPubMedGoogle Scholar
• 23 Nehal KS, PeBenito R, Orlow SJ. Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko. Arch Dermatol 1996; 132: 1167-1170.
  CrossrefPubMedGoogle Scholar
• 24 Nishikawa S, Kusakabe M, Yoshinaga K. et al. In utero manipulation of coat color formation by a monoclonal anti-c-kit antibody: two distinct waves of c-kit-dependency during melanocyte development. EMBO J 1991; 10: 2111-2118.
  PubMedGoogle Scholar
• 25 Njoo MD, Bos JD, Westerhof W. Treatment of generalized vitiligo in children with narrow-band (TL-01) UVB radiation therapy. J Am Acad Dermatol 2000; 42: 245-253.
  CrossrefPubMedGoogle Scholar
• 26 Nordlund JJ, Boissy RE, Hearing VJ. et al. The pigmentary system: physiology and pathophysiology. , 2. ed. Blackwell Publ, USA; 2006
  Google Scholar
• 27 Ochiai T, Ito K, Okada T. et al. Significance of extensive Mongolian spots in Hunter’s syndrome. Br J Dermatol 2003; 148: 1173-1178.
  CrossrefPubMedGoogle Scholar
• 28 Oetting WS, King RA. Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat 1999; 13: 99-115.
  CrossrefPubMedGoogle Scholar
• 29 Ostovari N, Passeron T, Zakaria W. et al. Treatment of vitiligo by 308-nm excimer laser: an evaluation of variables affecting treatment response. Lasers Surg Med 2004; 35: 152-156.
  CrossrefPubMedGoogle Scholar
• 30 Phan TA, Wargon O, Turner AM. Incontinentia pigmenti case series: clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives. Clin Exp Dermatol 2005; 30: 474-480.
  CrossrefPubMedGoogle Scholar
• 31 Read RW, Holland GN, Rao NA. et al. Revised diagnostic criteria for Vogt-Koyanagi-Harada disease: report of an international committee on nomenclature. Am J Ophthalmol 2001; 131: 647-652.
  CrossrefPubMedGoogle Scholar
• 32 Reynolds JE, Meyer JM, Landa B. et al. Analysis of variability of clinical manifestations in Waardenburg syndrome. Am J Med Genet 1995; 57: 540-547.
  CrossrefPubMedGoogle Scholar
• 33 Rezaei N, Gavalas NG, Weetman AP, Kemp EH. Autoimmunity as an aetiological factor in vitiligo. J Eur Acad Dermatol Venereol 2007; 21: 865-876.
  CrossrefPubMedGoogle Scholar
• 34 Rieger E, Kofler R, Borkenstein M. et al. Melanotic macules following Blaschko’s lines in McCune-Albright syndrome. Br J Dermatol 1994; 130: 215-220.
  CrossrefPubMedGoogle Scholar
• 35 Schallreuter KU, Wood JM, Lemke KR, Levenig C. Treatment of vitiligo with a topical application of pseudocatalase and calcium in combination with short-term UVB exposure: a case study on 33 patients. Dermatology 1995; 190: 223-229.
  CrossrefPubMedGoogle Scholar
• 36 Soong F, Levin AV, Westall CA. Comparison of techniques for detecting visually evoked potential asymmetry in albinism. J Am Assoc Pediatr Ophthalmol Strabismus 2000; 4: 302-310.
  CrossrefPubMedGoogle Scholar
• 37 Silverberg NB, Lin P, Travis L. et al. Tacrolimus ointment promotes repigmentation of vitiligo in children: a review of 57 cases. J Am Acad Dermatol 2004; 51: 760-766.
  CrossrefPubMedGoogle Scholar
• 38 Steijlen PM, Viëtor HE, Steensel MV, Happle R. Sweat testing in hypomelanosis of Ito: divergent results reflecting genetic heterogeneity. Eur J Dermatol 2000; 10: 217-219.
  PubMedGoogle Scholar
• 39 Taibjee SM, Bennett DC, Moss C. Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes. Br J Dermatol 2004; 151: 269-282.
  CrossrefPubMedGoogle Scholar
• 40 Tekin M, Bodurtha JN, Riccardi VM. Café au lait spots: the pediatrician’s perspective. Pediatr Rev 2001; 22: 82-90.
  CrossrefPubMedGoogle Scholar