Skip to main content

Mucinosis and Disorders of Collagen and Elastic Fibers

  • Chapter
  • First Online:

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.

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

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   249.99
Price excludes VAT (USA)
  • Durable hardcover 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

Learn about institutional subscriptions

References

  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.

    Chapter  Google Scholar 

  2. Vanakker O, Callewaert B, Malfait F, Coucke P. The genetics of soft connective tissue disorders. Rev Genomics Hum Genet. 2015;16:229–55.

    Article  CAS  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  5. Rongioletti F. Scleromyxedema. In Callen J, editor. UpToDate Inc. https://www.uptodate.com. Accessed Feb 15 2018.

  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.

    Article  PubMed  Google Scholar 

  7. Rongioletti F, Rebora A. Cutaneous mucinoses: microscopic criteria for diagnosis. Am J Dermatopathol. 2001;23:257–67.

    Article  CAS  PubMed  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  9. Rongioletti F. Lichen myxedematosus (papular mucinosis): new concepts and perspectives for an old disease. Semin Cutan Med Surg. 2006;25:100.

    Article  CAS  PubMed  Google Scholar 

  10. Rongioletti F. Localized lichen myxedematosus. In Callen J, editor. UpToDate Inc. https://www.uptodate.com. Accessed 23 Mar 2017.

  11. Fatourechi V. Thyroid dermopathy and acropachy. Best Pract Res Clin Endocrinol Metab. 2012;26:553.

    Article  CAS  PubMed  Google Scholar 

  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.

    PubMed  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  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.

    Article  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  PubMed  PubMed Central  Google Scholar 

  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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    PubMed  PubMed Central  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  PubMed  PubMed Central  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  41. Gambichler T. Mid-dermal elastolysis revisited. Arch Dermatol Res. 2010;302:85–93.

    Article  PubMed  Google Scholar 

  42. Hashimoto K, Tye MJ. Upper dermal elastolysis: a comparative study with mid-dermal elastolysis. J Cutan Pathol. 1994;21:533–40.

    Article  CAS  PubMed  Google Scholar 

  43. Rebora A, Parodi A, Rongioletti F. Mid-dermal elastolysis and pseudoxanthoma elasticum-like papillary dermal elastolysis. Br J Dermatol. 1995;132:487.

    Article  CAS  PubMed  Google Scholar 

  44. Brown KR, Rzucidlo E. Acute and chronic radiation injury. J Vasc Surg. 2011;53:15S–21S.

    Article  PubMed  Google Scholar 

  45. Spałek M. Chronic radiation-induced dermatitis: challenges and solutions. Clin Cosmet Investig Dermatol. 2016;9:473–82.

    Article  PubMed  PubMed Central  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  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. 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.

    Article  PubMed  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  52. Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol. 1986;14:646–60.

    Article  CAS  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  59. Mullins TB, Zito PM. Reactive perforating collagenosis. Source Stat Pearls. Treasure Island: StatPearls Publishing; 2018–2019.

    Google Scholar 

  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.

    Article  PubMed  PubMed Central  Google Scholar 

  61. Patterson JW. The perforating disorders. J Am Acad Dermatol. 1984;10:561–81.

    Article  CAS  PubMed  Google Scholar 

  62. Saraswat N, Chopra A, Mitra D. Talukdar K Nilotinib-induced perforating folliculitis: two cases. Int J Trichol. 2018;10:89–91.

    Article  Google Scholar 

  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.

    PubMed  Google Scholar 

  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.

    PubMed  Google Scholar 

  65. Langeveld-Wildschut EG, Toonstra J, van Vloten WA. Beemer FA Familial elastosis perforans serpiginosa. Arch Dermatol. 1993;129:205–7.

    Article  CAS  PubMed  Google Scholar 

  66. Hashimoto K, McEvoy B, Belcher R. Ultrastructure of penicillamine-induced skin lesions. J Am Acad Dermatol. 1981;4:300–15.

    Article  CAS  PubMed  Google Scholar 

  67. Kyrle J. Hyperkeratosis follicularis et parafollicularis in cutem penetrans. Arch Derm Syph. 1916;123:466.

    Article  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  69. Schamroth JM, Kellen P, Grieve TP. Atypical Kyrle’s disease. Int J Dermatol. 1986;25:310–3.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Franco Rongioletti .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2020 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Rongioletti, F., Romanelli, P., Ferreli, C. (2020). Mucinosis and Disorders of Collagen and Elastic Fibers. In: Hoang, M., Selim, M. (eds) Hospital-Based Dermatopathology. Springer, Cham. https://doi.org/10.1007/978-3-030-35820-4_6

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-35820-4_6

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-35819-8

  • Online ISBN: 978-3-030-35820-4

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics