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Mucinosis and Disorders of Collagen and Elastic Fibers

  • Franco RongiolettiEmail author
  • Paolo Romanelli
  • Caterina Ferreli
Chapter
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Abstract

Cutaneous mucinoses are a heterogeneous group of disorders having as a common denominator the deposition of an excess of mucin (acid glycosaminoglycans, mostly hyaluronic acid) in the dermis or in the hair follicles. They are divided into primary and secondary forms. Primary cutaneous mucinoses are characterized by specific clinical lesions in which mucin deposition is the distinctive histological sign, while in secondary mucinoses, mucin deposition is simply an accessory histological sign. Disorders of collagen and elastic fibers are divided into hereditary and acquired forms. Both forms can be further divided into those diseases characterized by an increase and those by a decrease in collagen and elastic tissue. A peculiar variant of disorders of dermal connective tissue includes the primary perforating dermatoses.

Keywords

Mucinoses Elastic disorders Collagen disorders Perforating disorders 

References

  1. 1.
    Rongioletti F. Mucinoses. In: Rongioletti F, Smoller BR, editors. Clinical and pathological aspects of skin diseases in endocrine, metabolic, nutritional and deposition disease. New York: Springer; 2010. p. 139–52.CrossRefGoogle Scholar
  2. 2.
    Vanakker O, Callewaert B, Malfait F, Coucke P. The genetics of soft connective tissue disorders. Rev Genomics Hum Genet. 2015;16:229–55.CrossRefGoogle Scholar
  3. 3.
    Colombi M, Dordoni C, Chiarelli N, Ritelli M. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. Am J Med Genet C Semin Med Genet. 2015;169C(1):6–22.CrossRefGoogle Scholar
  4. 4.
    Andrés-Ramos I, Alegría-Landa V, Gimeno I, Pérez-Plaza A, Rütten A, Kutzner H, Requena L. Cutaneous elastic tissue anomalies. Am J Dermatopathol. 2019;41(2):85–117.CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Rongioletti F. Scleromyxedema. In Callen J, editor. UpToDate Inc. https://www.uptodate.com. Accessed Feb 15 2018.
  6. 6.
    Rongioletti F, Merlo G, Cinotti E, et al. Scleromyxedema: a multicenter study of characteristics, comorbidities, course, and therapy in 30 patients. J Am Acad Dermatol. 2013;69:66.CrossRefGoogle Scholar
  7. 7.
    Rongioletti F, Rebora A. Cutaneous mucinoses: microscopic criteria for diagnosis. Am J Dermatopathol. 2001;23:257–67.CrossRefGoogle Scholar
  8. 8.
    Rongioletti F, Merlo G, Carli C, Cribier B, Metze D, Calonje E, Kempf W, Stefanato CM, Marinho E, Kanitakis J. Histopathologic characteristics of scleromyxedema: A study of a series of 34 cases. J Am Acad Dermatol. 2016;74:1194.CrossRefGoogle Scholar
  9. 9.
    Rongioletti F. Lichen myxedematosus (papular mucinosis): new concepts and perspectives for an old disease. Semin Cutan Med Surg. 2006;25:100.CrossRefGoogle Scholar
  10. 10.
    Rongioletti F. Localized lichen myxedematosus. In Callen J, editor. UpToDate Inc. https://www.uptodate.com. Accessed 23 Mar 2017.
  11. 11.
    Fatourechi V. Thyroid dermopathy and acropachy. Best Pract Res Clin Endocrinol Metab. 2012;26:553.CrossRefGoogle Scholar
  12. 12.
    Verma S, Rongioletti F, Braun-Falco M, Ruzicka T. Preradial myxedema in a euthyroid male: A distinct rarity. Dermatol Online J. 2013;19:9.PubMedGoogle Scholar
  13. 13.
    Rongioletti F, Donati P, Amantea A, Ferrara G, Montinari M, Santoro F, et al. Obesity-associated lymphoedematous mucinosis. J Cutan Pathol. 2009;36:1089–94.CrossRefPubMedPubMedCentralGoogle Scholar
  14. 14.
    Rongioletti F, Kaiser F, Cinotti E, et al. Scleredema. A multicentre study of characteristics, comorbidities, course and therapy in 44 patients. J Eur Acad Dermatol Venereol. 2015;29:2399–404.CrossRefGoogle Scholar
  15. 15.
    Knobler R, Moinzadeh P, Hunzelmann N, et al. European dermatology forum S1-guideline on the diagnosis and treatment of sclerosing diseases of the skin, part 2: scleromyxedema, scleredema and nephrogenic systemic fibrosis. J Eur Acad Dermatol Venereol. 2017;3:1581–94.CrossRefGoogle Scholar
  16. 16.
    Ferreli C, Gasparini G, Parodi A, Cozzani E, Rongioletti F, Atzori L. Cutaneous manifestations of scleroderma and scleroderma-like disorders: a comprehensive review. Clin Rev Allergy Immunol. 2017;53:306–36.CrossRefGoogle Scholar
  17. 17.
    Rongioletti F, Merlo V, Riva S, et al. Reticular erythematous mucinosis: a review of patients characteristics, associated conditions, therapy and outcome in 25 cases. Br J Dermatol. 2013;169:1207–11.CrossRefGoogle Scholar
  18. 18.
    Cinotti E, Merlo V, Kempf W, et al. Reticular erythematous mucinosis: histopathological and immunohistochemical features of 25 patients compared with 25 cases of lupus erythematosus tumidus. J Eur Acad Dermatol Venereol. 2015;29:689–97.CrossRefGoogle Scholar
  19. 19.
    Uitto J, Jiang Q, Váradi A, Bercovitch LG, Terry SF. Pseudoxanthoma elasticum: diagnostic features, classification, and treatment options. Expert Opin Orphan Drugs. 2014;2:567–77.CrossRefPubMedPubMedCentralGoogle Scholar
  20. 20.
    Li Q, Jiang Q, Uitto J. Ectopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcification. Matrix Biol. 2014;33:23–8.CrossRefGoogle Scholar
  21. 21.
    Rongioletti F, Izakovic J, Romanelli P, Lanuti E, Miteva M. Pseudoxanthoma elasticum-like papillary dermal elastolysis: a large case series with clinicopathological correlation. J Am Acad Dermatol. 2012;67:128–35.CrossRefGoogle Scholar
  22. 22.
    Hosen MJ, Lamoen A, De Paepe A, Vanakker OM. Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues. Scientifica. 2012;2012:598262.CrossRefPubMedPubMedCentralGoogle Scholar
  23. 23.
    Du J, Cleghorn WM, Contreras L, Lindsay K, Rountree AM, Chertov AO, Turner SJ, Sahaboglu A, Linton J, Sadilek M, Satrústegui J, Sweet IR, Paquet-Durand F, Hurley JB. Inhibition of mitochondrial pyruvate transport by zaprinast causes massive accumulation of aspartate at the expense of glutamate in the retina. J Biol Chem. 2013;288:36129–40.CrossRefPubMedPubMedCentralGoogle Scholar
  24. 24.
    Uchiyama A, Motegi S, Okada E, Hirai N, Nagai Y, Tamura A, Ishikawa O. Cutaneous marginal zone B-cell lymphoma evolving into anetoderma: a role of matrix metalloproteinases? Acta Derm Venereol. 2015;95:499–500.CrossRefPubMedPubMedCentralGoogle Scholar
  25. 25.
    Kim JE, Sohn KM, Woo YJ, Jeong KH, Kim M, Lee JD, Lee JY, Park HJ, Kim GM, Park CJ, Yu DS, Kang H. A clinicoimmunohistopathologic study of anetoderma: is protruding type more advanced in stage than indented type? J Immunol Res. 2016;2016:4325463.PubMedPubMedCentralGoogle Scholar
  26. 26.
    Goujon E, Beer F, Gay S, Sandre D, Gouyon JB, Vabres P. Anetoderma of prematurity: an iatrogenic consequence of neonatal intensive care. Arch Dermatol. 2010;146:565–7.CrossRefGoogle Scholar
  27. 27.
    Jeong NJ, Park SB, Im M, Seo YJ, Lee JH, Lee Y. Eruptive anetoderma in a patient with systemic lupus erythematosus. Ann Dermatol. 2014;26:621–3.CrossRefPubMedPubMedCentralGoogle Scholar
  28. 28.
    Fukayama M, Miyagaki T, Akamata K, Suzuki S, Tanaka M, Sato S. Japanese familial anetoderma: a report of two cases and review of the published work. J Dermatol. 2018;45:1459–62.CrossRefGoogle Scholar
  29. 29.
    Lewis KG, Bercovitch L, Dill SW, Robinson-Bostom L. Acquired disorders of elastic tissue: part II. Decreased elastic tissue. J Am Acad Dermatol. 2004;51:165–85.CrossRefGoogle Scholar
  30. 30.
    Göebel-Pinto JB, de Almeida HL Jr, de Castro LAS, Rocha NM. Ultrastructural aspects of primary anetoderma. J Cutan Pathol. 2017;44:786–9.CrossRefPubMedPubMedCentralGoogle Scholar
  31. 31.
    Uitto J, Li Q, Urban Z. The complexity of elastic fiber biogenesis in the skin – a perspective to the clinical heterogeneity of cutis laxa. Exp Dermatol. 2013;22:88–92.CrossRefPubMedPubMedCentralGoogle Scholar
  32. 32.
    Jachiet M, Harel S, Saussine A, Battistella M, Rybojad M, Asli B, Bengoufa D, Mahevas T, Bessis D, Galicier L, Schmutz JL, Hadj-Rabia S, Boutboul D, Lebbé C, Bagot M, Malphettes M, Lipsker D, Fermand JP, Bouaziz JD, Arnulf B, Study Group of Systemic Diseases in Dermatology (Étude des Maladies Systémiques en Dermatologie); Groupe d’Etude des Dermatoses Associées à une Immunoglobuline Monoclonale. Cutis laxa associated with monoclonal gammopathy: 14 new cases and review of the literature. J Am Acad Dermatol. 2018;79:945–7.CrossRefPubMedPubMedCentralGoogle Scholar
  33. 33.
    New HD, Callen JP. Generalized acquired cutis laxa associated with multiple myeloma with biphenotypic IgG-? And IgA-? Gammopathy following treatment of a nodal plasmacytoma. Arch Dermatol. 2011;147:323–8.CrossRefPubMedPubMedCentralGoogle Scholar
  34. 34.
    O’Malley JT, D’Agati VD, Sherman WH, Grossman ME. Acquired cutis Laxa associated with heavy chain deposition disease involving dermal elastic fibers. JAMA Dermatol. 2014;150:1192–6.CrossRefPubMedPubMedCentralGoogle Scholar
  35. 35.
    Hill VA, Seymour CA, Mortimer PS. Pencillamine-induced elastosis perforans serpiginosa and cutis laxa in Wilson’s disease. Br J Dermatol. 2000;142:560–1.CrossRefPubMedPubMedCentralGoogle Scholar
  36. 36.
    Rongioletti F, Cutolo M, Bondavalli P, Rebora A. Acral localized acquired cutis laxa associated with rheumatoid arthritis. J Am Acad Dermatol. 2002;46:128–30.CrossRefGoogle Scholar
  37. 37.
    Igoucheva O, Alexeev V, Halabi CM, Adams SM, Stoilov I, Sasaki T, Arita M, Donahue A, Mecham RP, Birk DE, Chu M. Fibulin-4 E57K knock-in mice recapitulate cutaneous, vascular and skeletal defects of recessive cutis Laxa 1B with both elastic fiber and collagen fibril abnormalities. J Biol Chem. 2015;290:21443–59.CrossRefPubMedPubMedCentralGoogle Scholar
  38. 38.
    Bultmann-Mellin I, Conradi A, Maul AC, Dinger K, Wempe F, Wohl AP, Imhof T, Wunderlich FT, Bunck AC, Nakamura T, Koli K, Bloch W, Ghanem A, Heinz A, von Melchner H, Sengle G, Sterner-Kock A. Modeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoforms. Dis Model Mech. 2015;8:403–15.CrossRefPubMedPubMedCentralGoogle Scholar
  39. 39.
    Nozaki F, Kusunoki T, Okamoto N, Yamamoto Y, Miya F, Tsunoda T, et al. ALDH18A1-related cutis laxa syndrome with cyclic vomiting. Brain and Development. 2016;38:678–84.CrossRefGoogle Scholar
  40. 40.
    Gu W, Liu W, Yang X, Yuan X, Tian Y, Meng R, Zhao Q. Cutis laxa: analysis of metalloproteinases and extracellular matrix expression by immunohistochemistry and histochemistry. Eur J Dermatol. 2011;21:717–21.CrossRefGoogle Scholar
  41. 41.
    Gambichler T. Mid-dermal elastolysis revisited. Arch Dermatol Res. 2010;302:85–93.CrossRefGoogle Scholar
  42. 42.
    Hashimoto K, Tye MJ. Upper dermal elastolysis: a comparative study with mid-dermal elastolysis. J Cutan Pathol. 1994;21:533–40.CrossRefGoogle Scholar
  43. 43.
    Rebora A, Parodi A, Rongioletti F. Mid-dermal elastolysis and pseudoxanthoma elasticum-like papillary dermal elastolysis. Br J Dermatol. 1995;132:487.CrossRefGoogle Scholar
  44. 44.
    Brown KR, Rzucidlo E. Acute and chronic radiation injury. J Vasc Surg. 2011;53:15S–21S.CrossRefGoogle Scholar
  45. 45.
    Spałek M. Chronic radiation-induced dermatitis: challenges and solutions. Clin Cosmet Investig Dermatol. 2016;9:473–82.CrossRefPubMedPubMedCentralGoogle Scholar
  46. 46.
    Batrani M, Kubba A, Sundharam J. Fluoroscopy-induced chronic radiation dermatitis masquerading as morphea: a diagnostic pitfall. Indian J Pathol Microbiol. 2018;61:393–6.CrossRefGoogle Scholar
  47. 47.
    Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers- Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998;77:31–7.CrossRefGoogle Scholar
  48. 48.
    Hakim A, De Wandele I, O’Callaghan C, Pocinki A. Chronic fatigue in Ehlers-Danlos syndrome-hypermobile type. Rowe PAm J Med Genet C Semin Med Genet. 2017;175:175–80.Google Scholar
  49. 49.
    Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H. Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): clinical description and natural history. Am J Med Genet C Semin Med Genet. 2017;175:48–69.CrossRefGoogle Scholar
  50. 50.
    Bicca Ede B, Almeida FB, Pinto GM, Castro LA, Almeida HL Jr. Classical Ehlers-Danlos syndrome: clinical, histological and ultrastructural aspects. An Bras Dermatol. 2011;86(4 Suppl 1):S164–7.CrossRefGoogle Scholar
  51. 51.
    Kim J, Lee M, et al. A case of aplasia cutis congenita with widespread multifocal skin defects without extracutaneous abnormalities. Acta Derm Venereol. 2019;99:343–4.CrossRefGoogle Scholar
  52. 52.
    Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol. 1986;14:646–60.CrossRefGoogle Scholar
  53. 53.
    Humphrey SR, Hu X, Adamson K, Schaus A, Jensen JN, Drolet B. A practical approach to the evaluation and treatment of an infant with aplasia cutis congenita. J Perinatol. 2018;38:110–7.CrossRefGoogle Scholar
  54. 54.
    Cho AY, Lee SS, Lee Y, Kim CD, Lee JH, Seo YJ. Aplasia cutis congenita with hair collar sign and dermal melanocytosis. Int J Dermatol. 2012;51:745–7.CrossRefGoogle Scholar
  55. 55.
    Severino-Freire M, Maza A, Lombardi MP, Tournier E, Chassaing N, Mazereeuw-Hautier J. Mosaic focal dermal hypoplasia (Goltz syndrome) in two female patients. Acta Derm Venereol. 2017;97:853–4.CrossRefGoogle Scholar
  56. 56.
    Ko CJ, Antaya RJ, Zubek A, Craiglow B, Damsky W, Galan A, et al. Revisiting histopathologic findings in Goltz syndrome. J Cutan Pathol. 2016;43:418–21.CrossRefGoogle Scholar
  57. 57.
    Knobler R, Moinzadeh P, Hunzelmann NJ, et al. European dermatology forum S1-guideline on the diagnosis and treatment of sclerosing diseases of the skin, part 2: scleromyxedema, scleredema and nephrogenic systemic fibrosis. J Eur Acad Dermatol Venereol. 2017;31:1581–94.CrossRefGoogle Scholar
  58. 58.
    Reid J, Almond L, Matthewman N, Stringer H, Francis N, Al AM. A case of acquired reactive perforating collagenosis. Australas J Dermatol. 2018;59:e75–6.CrossRefPubMedPubMedCentralGoogle Scholar
  59. 59.
    Mullins TB, Zito PM. Reactive perforating collagenosis. Source Stat Pearls. Treasure Island: StatPearls Publishing; 2018–2019.Google Scholar
  60. 60.
    Kim SW, Kim MS, Lee JH, Son SJ, Park KY, Li K, et al. A clinicopathologic study of thirty cases of acquired perforating dermatosis in Korea. Ann Dermatol. 2014;26:162–71.CrossRefPubMedPubMedCentralGoogle Scholar
  61. 61.
    Patterson JW. The perforating disorders. J Am Acad Dermatol. 1984;10:561–81.CrossRefGoogle Scholar
  62. 62.
    Saraswat N, Chopra A, Mitra D. Talukdar K Nilotinib-induced perforating folliculitis: two cases. Int J Trichol. 2018;10:89–91.CrossRefGoogle Scholar
  63. 63.
    Montesu MA, Onnis G, Gunnella S, Lissia A, Satta R. Elastosis perforans serpiginosa: causes and associated disorders. Eur J Dermatol. 2018;28:476–81.PubMedGoogle Scholar
  64. 64.
    Atzori L, Pinna AL, Pau M, Aste N. D-penicillamine elastosis perforans serpiginosa: description of two cases and review of the literature. Dermatol Online J. 2011;17:3.PubMedGoogle Scholar
  65. 65.
    Langeveld-Wildschut EG, Toonstra J, van Vloten WA. Beemer FA Familial elastosis perforans serpiginosa. Arch Dermatol. 1993;129:205–7.CrossRefGoogle Scholar
  66. 66.
    Hashimoto K, McEvoy B, Belcher R. Ultrastructure of penicillamine-induced skin lesions. J Am Acad Dermatol. 1981;4:300–15.CrossRefPubMedPubMedCentralGoogle Scholar
  67. 67.
    Kyrle J. Hyperkeratosis follicularis et parafollicularis in cutem penetrans. Arch Derm Syph. 1916;123:466.CrossRefGoogle Scholar
  68. 68.
    Zelger B, Hintner H, Auböck J, Fritsch PO. Acquired perforating dermatosis. Transepidermal elimination of DNA material and possible role of leukocytes in pathogenesis. Arch Dermatol. 1991;127:695–700.CrossRefPubMedPubMedCentralGoogle Scholar
  69. 69.
    Schamroth JM, Kellen P, Grieve TP. Atypical Kyrle’s disease. Int J Dermatol. 1986;25:310–3.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  • Franco Rongioletti
    • 1
    Email author
  • Paolo Romanelli
    • 2
  • Caterina Ferreli
    • 1
  1. 1.Unit of Dermatology, Department of Medical Sciences and Public HealthUniversity of CagliariCagliari, SardiniaItaly
  2. 2.Unit of Clinical Dermatology, Department of Dermatology and Cutaneous Surgery, Miller School of MedicineUniversity of MiamiMiamiUSA

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