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Esophageal Manifestations of Dermatological Diseases, Diagnosis, and Management

  • Esophagus (K Ravi, Section Editor)
  • Published:
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Abstract

Purpose of Review

The purpose of this article is to discuss the diagnosis and treatment of diseases that affect both the skin and the esophagus.

Recent Findings

The diagnosis of dermatological conditions that affect the esophagus often requires endoscopy and biopsy with some conditions requiring further investigation with serology, immunofluorescence, manometry, or genetic testing. Many conditions that affect the skin and esophagus can be treated successfully with systemic steroids and immunosuppressants including pemphigus, pemphigoid, HIV, esophageal lichen planus, and Crohn’s disease. Many conditions are associated with esophageal strictures which are treated with endoscopic dilation. Furthermore, many of the diseases are pre-malignant and require vigilance and surveillance endoscopy.

Summary

Diseases that affect the skin and esophagus can be grouped by their underlying etiology: autoimmune (scleroderma, dermatomyositis, pemphigus, pemphigoid), infectious (herpes simplex virus, cytomegalovirus, human immunodeficiency virus), inflammatory (lichen planus and Crohn’s disease), and genetic (epidermolysis bullosa, Cowden syndrome, focal dermal hypoplasia, and tylosis). It is important to consider primary skin conditions that affect the esophagus when patients present with dysphagia of unknown etiology and characteristic skin findings.

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References and Recommended Reading

Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

  1. Lee MH, Lubner MG, Peebles JK, Hinshaw MA, Menias CO, Levine MS, et al. Clinical, Imaging, and pathologic features of conditions with combined esophageal and cutaneous manifestations. Radiographics. 2019;39(5):1411–34. Highly recommended recent review article on esophageal manifestations of dermatological illness from radiologist perspective.

    Article  Google Scholar 

  2. Gualtierotti R, Marzano AV, Spadari F, Cugno M. Main oral manifestations in immune-mediated and inflammatory rheumatic diseases. J Clin Med. 2018;8(1):21.

    Article  Google Scholar 

  3. Braun-Moscovici Y, Brun R, Braun M. Systemic sclerosis and the gastrointestinal tract-clinical approach. Rambam Maimonides Med J. 2016;7(4):e0031.

    Article  Google Scholar 

  4. Wise JL, Murray JA. Esophageal manifestations of dermatologic disease. Curr Gastroenterol Rep. 2002;4(3):205–12.

    Article  Google Scholar 

  5. Rohof WOA, Bredenoord AJ. Chicago classification of esophageal motility disorders: lessons learned. Curr Gastroenterol Rep. 2017;19(8):3.

    Article  Google Scholar 

  6. Crowell MD, Umar SB, Griffing WL, DiBaise JK, Lacy BE, Vela MF. Esophageal motor abnormalities in patients with scleroderma: heterogeneity, risk factors, and effects on quality of life. Clin Gastroenterol Hepatol. 2017;15(2):207–13 e1. https://doi.org/10.1016/j.cgh.2016.08.034  Interesting article on the prevalence of manometry findings in scleroderma.

    Article  Google Scholar 

  7. Christopher P Denton M. Overview of the treatment and prognosis of systemic sclerosis (scleroderma) in adults. Wolters Kluwer. 2021. https://www.uptodate.com/contents/overview-of-the-treatment-and-prognosis-of-systemic-sclerosis-scleroderma-in-adults. Accessed 21 Feb 2021.

  8. Kowal-Bielecka O, Fransen J, Avouac J, Becker M, Kulak A, Allanore Y, et al. Update of EULAR recommendations for the treatment of systemic sclerosis. Ann Rheum Dis. 2017;76(8):1327–39.

    Article  Google Scholar 

  9. Karamanolis GP, Panopoulos S, Denaxas K, Karlaftis A, Zorbala A, Kamberoglou D, et al. The 5-HT1A receptor agonist buspirone improves esophageal motor function and symptoms in systemic sclerosis: a 4-week, open-label trial. Arthritis Res Ther. 2016;18:195.

    Article  Google Scholar 

  10. Castell DO. The lower esophageal sphincter. Physiologic and clinical aspects. Ann Intern Med. 1975;83(3):390–401.

    Article  CAS  Google Scholar 

  11. McMahan ZH, Hummers LK. Gastrointestinal involvement in systemic sclerosis: diagnosis and management. Curr Opin Rheumatol. 2018;30(6):533–40.

    Article  Google Scholar 

  12. Bogdanov I, Kazandjieva J, Darlenski R, Tsankov N. Dermatomyositis: Current concepts. Clin Dermatol. 2018;36(4):450–8.

    Article  Google Scholar 

  13. Casal-Dominguez M, Pinal-Fernandez I, Mego M, Accarino A, Jubany L, Azpiroz F, et al. High-resolution manometry in patients with idiopathic inflammatory myopathy: elevated prevalence of esophageal involvement and differences according to autoantibody status and clinical subset. Muscle Nerve. 2017;56(3):386–92.

    Article  CAS  Google Scholar 

  14. Waldman R, DeWane ME, Lu J. Dermatomyositis: diagnosis and treatment. J Am Acad Dermatol. 2020;82(2):283–96.

    Article  Google Scholar 

  15. Amos J, Baron A, Rubin AD. Autoimmune swallowing disorders. Curr Opin Otolaryngol Head Neck Surg. 2016;24(6):483–8.

    Article  Google Scholar 

  16. Yuan H, Pan M. Endoscopic characteristics of oesophagus involvement in mucous membrane pemphigoid. Br J Dermatol. 2017;177(4):902–3.

    Article  CAS  Google Scholar 

  17. de Macedo AG, Bertges ER, Bertges LC, Mendes RA, Bertges T, Bertges KR, et al. Pemphigus Vulgaris in the Mouth and Esophageal Mucosa. Case Rep Gastroenterol. 2018;12(2):260–5.

    Article  Google Scholar 

  18. Cecinato P, Laterza L, De Marco L, Casali A, Zanelli M, Sassatelli R. Esophageal involvement by pemphigus vulgaris resulting in dysphagia. Endoscopy. 2015;47(Suppl 1 UCTN):E271–2.

    Google Scholar 

  19. Nakamura R, Omori T, Suda K, Wada N, Kawakubo H, Takeuchi H, et al. Endoscopic findings of laryngopharyngeal and esophageal involvement in autoimmune bullous disease. Dig Endosc. 2017;29(7):765–72.

    Article  Google Scholar 

  20. Benoit S, Scheurlen M, Goebeler M, Stoevesandt J. Structured diagnostic approach and risk assessment in mucous membrane pemphigoid with oesophageal involvement. Acta Derm Venereol. 2018;98(7):660–6.

    Article  CAS  Google Scholar 

  21. DeGrazia T, Eisenstadt R, Willingham FF, Feldman R. Mucous membrane pemphigoid presenting with esophageal manifestations: a case series. Am J Gastroenterol. 2019;114(10):1695–7.

    Article  Google Scholar 

  22. Sanchez Prudencio S, Domingo Senra D, Martin Rodriguez D, Botella Mateu B, Esteban Jimenez-Zarza C, de la Morena LF, et al. Esophageal cicatricial pemphigoid as an isolated involvement treated with mycophenolate mofetil. Case Rep Gastrointest Med. 2015;2015:620374.

    Google Scholar 

  23. Umeda Y, Tanaka K, Yamada R. An unusual web stricture in the cervical esophagus. Gastroenterology. 2020;158(1):54–5.

    Article  Google Scholar 

  24. Gopal P, Gibson JA, Lisovsky M, Nalbantoglu I. Unique causes of esophageal inflammation: a histopathologic perspective. Ann N Y Acad Sci. 2018;1434(1):219–26.

    Article  Google Scholar 

  25. Amber KT, Murrell DF, Schmidt E, Joly P, Borradori L. Autoimmune subepidermal bullous diseases of the skin and mucosae: clinical features, diagnosis, and management. Clin Rev Allergy Immunol. 2018;54(1):26–51.

    Article  Google Scholar 

  26. Ozeki KA, Zikos TA, Clarke JO, Sonu I. Esophagogastroduodenoscopy and Esophageal Involvement in Patients with Pemphigus Vulgaris. Dysphagia. 2020;35(3):503–8. Relatively large retrospective study of 111 pemphigus vulgaris patients examining the incidence of esophageal involvement.

    Article  Google Scholar 

  27. Galloro G, Mignogna M, de Werra C, Magno L, Diamantis G, Ruoppo E, et al. The role of upper endoscopy in identifying oesophageal involvement in patients with oral pemphigus vulgaris. Dig Liver Dis. 2005;37(3):195–9.

    Article  CAS  Google Scholar 

  28. Usman RM, Jehangir Q, Bilal M. Recurrent esophageal stricture secondary to pemphigus vulgaris: a rare diagnostic and therapeutic challenge. ACG Case Rep J. 2019;6(2):e00022.

    Article  Google Scholar 

  29. Zehou O, Raynaud JJ, Le Roux-Villet C, Alexandre M, Airinei G, Pascal F, et al. Oesophageal involvement in 26 consecutive patients with mucous membrane pemphigoid. Br J Dermatol. 2017;177(4):1074–85. Retrospective study of MMP patients with esophageal involvement. Within this study there is a good description of physical exam findings, endoscopic findings, and response to therapeutics.

    Article  CAS  Google Scholar 

  30. Peter AL, Bonis CNK. Herpes simplex virus infection of the esophagus. Wolters Kulwer. 2020. https://www.uptodate.com/contents/herpes-simplex-virus-infection-of-the-esophagus. Accessed 14 Feb 2021.

  31. Bannoura S, Barada K, Sinno S, Boulos F, Chakhachiro Z. Esophageal cytomegalovirus and herpes simplex virus co-infection in an immunocompromised patient: case report and review of literature. IDCases. 2020;22:e00925.

    Article  Google Scholar 

  32. Li L, Chakinala RC. Cytomegalovirus Esophagitis. Treasure Island (FL): StatPearls; 2020.

    Google Scholar 

  33. Sato Y, Takenaka R, Matsumi A, Takei K, Okanoue S, Yasutomi E, et al. A Japanese case of esophageal lichen planus that was successfully treated with systemic corticosteroids. Intern Med. 2018;57(1):25–9.

    Article  Google Scholar 

  34. Thomas M, Makey IA, Francis DL, Wolfsen HC, Bowers SP. Squamous cell carcinoma in lichen planus of the esophagus. Ann Thorac Surg. 2020;109(2):e83–e5.

    Article  Google Scholar 

  35. Schauer F, Monasterio C, Technau-Hafsi K, Kern JS, Lazaro A, Deibert P, et al. Esophageal lichen planus: towards diagnosis of an underdiagnosed disease. Scand J Gastroenterol. 2019;54(10):1189–98. Retrospective study of 52 patients with esophageal lichen planus examining disease severity, diagnosis, and response to therapeutics.

    Article  CAS  Google Scholar 

  36. Kern JS, Technau-Hafsi K, Schwacha H, Kuhlmann J, Hirsch G, Brass V, et al. Esophageal involvement is frequent in lichen planus: study in 32 patients with suggestion of clinicopathologic diagnostic criteria and therapeutic implications. Eur J Gastroenterol Hepatol. 2016;28(12):1374–82. Retrospective study of 32 patients with esophageal lichen planus commenting on diagnosis and therapeutics.

    Article  CAS  Google Scholar 

  37. Zamani F, Haghighi M, Roshani M, Sohrabi M. Esophageal Lichen Planus Stricture. Middle East J Dig Dis. 2019;11(1):52–4.

    Article  Google Scholar 

  38. Ravi K, Codipilly DC, Sunjaya D, Fang H, Arora AS, Katzka DA. Esophageal Lichen planus is associated with a significant increase in risk of squamous cell carcinoma. Clin Gastroenterol Hepatol. 2019;17(9):1902–3 e1. https://doi.org/10.1016/j.cgh.2018.10.018.

    Article  Google Scholar 

  39. Schwartzberg DM, Brandstetter S, Grucela AL. Crohn's disease of the esophagus, duodenum, and stomach. Clin Colon Rectal Surg. 2019;32(4):231–42. Great review article on the clinical manifestations, diagnosis, and treatment of upper gastrointestinal Crohn's disease.

    Article  Google Scholar 

  40. Greuter T, Navarini A, Vavricka SR. Skin manifestations of inflammatory bowel disease. Clin Rev Allergy Immunol. 2017;53(3):413–27.

    Article  CAS  Google Scholar 

  41. Nguyen GC, Torres EA, Regueiro M, Bromfield G, Bitton A, Stempak J, et al. Inflammatory bowel disease characteristics among African Americans, Hispanics, and non-Hispanic Whites: characterization of a large North American cohort. Am J Gastroenterol. 2006;101(5):1012–23.

    Article  Google Scholar 

  42. De Felice KM, Katzka DA, Raffals LE. Crohn’s disease of the esophagus: clinical features and treatment outcomes in the biologic era. Inflamm Bowel Dis. 2015;21(9):2106–13. Study of 24 patients with esophageal Crohn's disease examining clinical symptoms, endoscopic findings, and therapeutic response.

    Article  Google Scholar 

  43. Pokala A, Shen B. Update of endoscopic management of Crohn’s disease strictures. Intest Res. 2020;18(1):1–10.

    Article  Google Scholar 

  44. Makker J, Bajantri B, Remy P. Rare case of dysphagia, skin blistering, missing nails in a young boy. World J Gastrointest Endosc. 2015;7(2):154–8.

    Article  Google Scholar 

  45. Anderson BT, Feinstein JA, Kramer RE, Narkewicz MR, Bruckner AL, Brumbaugh DE. Approach and safety of esophageal dilation for treatment of strictures in children with epidermolysis bullosa. J Pediatr Gastroenterol Nutr. 2018;67(6):701–5. Retrospective study examining the rate of adverse events after esophageal balloon dilation in patients with epidermolysis bullosa.

    Article  Google Scholar 

  46. Vowinkel T, Laukoetter M, Mennigen R, Hahnenkamp K, Gottschalk A, Boschin M, et al. A two-step multidisciplinary approach to treat recurrent esophageal strictures in children with epidermolysis bullosa dystrophica. Endoscopy. 2015;47(6):541–4.

    Article  Google Scholar 

  47. Kang YH, Lee HK, Park G. Cowden Syndrome detected by FDG PET/CT in an endometrial cancer patient. Nucl Med Mol Imaging. 2016;50(3):255–7.

    Article  CAS  Google Scholar 

  48. Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet. 2000;37(11):828–30.

    Article  CAS  Google Scholar 

  49. Inukai K, Takashima N, Fujihata S, Miyai H, Yamamoto M, Kobayashi K, et al. Arteriovenous malformation in the sigmoid colon of a patient with Cowden disease treated with laparoscopy: a case report. BMC Surg. 2018;18(1):21.

    Article  Google Scholar 

  50. Yilmaz N. The relationship between reflux symptoms and glycogenic acanthosis lesions of the oesophagus. Prz Gastroenterol. 2020;15(1):39–43 48.

    Google Scholar 

  51. Modi RM, Arnold CA, Stanich PP. Diffuse Esophageal glycogenic acanthosis and colon polyposis in a patient with Cowden syndrome. Clin Gastroenterol Hepatol. 2017;15(8):e131–e2.

    Article  Google Scholar 

  52. Cowden syndrome. National Institutes of Health: Health and Human Services. 2017. https://rarediseases.info.nih.gov/diseases/6202/cowden-syndrome. Accessed 14 Feb 2021.

  53. Parvataneni S, Chaudhari D, Swenson J, Young M. Cowden syndrome. Indian J Gastroenterol. 2015;34(6):468.

    Article  Google Scholar 

  54. Pasman EA, Heifert TA, Nylund CM. Esophageal squamous papillomas with focal dermal hypoplasia and eosinophilic esophagitis. World J Gastroenterol. 2017;23(12):2246–50.

    Article  Google Scholar 

  55. Hafiz M, Sundaram S, Naqash AR, Speicher J, Sutton A, Walker P, et al. A Rare case of squamous cell carcinoma of the esophagus in a patient with Goltz syndrome. ACG Case Rep J. 2019;6(3):1–4.

    Article  Google Scholar 

  56. Bostwick B, Van den Veyver IB, Sutton VR. Focal Dermal Hypoplasia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, et al., editors. GeneReviews((R)). Seattle1993.

  57. Ellis A, Risk JM, Maruthappu T, Kelsell DP. Tylosis with oesophageal cancer: diagnosis, management and molecular mechanisms. Orphanet J Rare Dis. 2015;10:126.

    Article  Google Scholar 

  58. Maillefer RH, Greydanus MP. To B or not to B: is tylosis B truly benign? Two North American genealogies. Am J Gastroenterol. 1999;94(3):829–34.

    CAS  Google Scholar 

  59. Ramai D, Lai JK, Ofori E, Linn S, Reddy M. Evaluation and management of premalignant conditions of the esophagus: a systematic survey of International Guidelines. J Clin Gastroenterol. 2019;53(9):627–34. Interesting review article on premalignant conditions of the esophagus. This article provides clinicians with guidance on the clinical presentation, surveillance, and management of tylosis.

    Article  Google Scholar 

  60. Surapaneni BK, Kancharla P, Vinayek R, Dutta SK, Goldfinger M. Uncommon endoscopic findings in a tylosis patient: a case report. Case Rep Oncol. 2019;12(2):385–90.

    Article  Google Scholar 

  61. Lykova SG, Maksimova YV, Nemchaninova OB, Guseva SN, Omigov VV, Aidagulova SV. Inherited epidermolysis bullosa. Arkh Patol. 2018;80(4):54–60.

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Internal Medicine, University of Colorado School of Medicine - Anschutz Medical Campus, Denver, CO, USA

    Amr M. Arar MD

  2. Division of Gastroenterology and Hepatology, University of Colorado School of Medicine - Anschutz Medical Campus, Denver, CO, 80045, USA

    Kelli DeLay MD & Paul Menard-Katcher MD

  3. Division of Gastroenterology, Duke University Medical Center, Durham, NC, USA

    David A. Leiman MD, MSHP

  4. Duke Clinical Research Institute, Durham, NC, USA

    David A. Leiman MD, MSHP

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  1. Amr M. Arar MD
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Correspondence to Paul Menard-Katcher MD.

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Amr M. Arar declares that he has no potential conflicts of interest. 

Kelli DeLay declares that she has no potential conflicts of interest.

David A. Leiman declares that he has no potential conflicts of interest.

Paul Menard-Katcher declares that he has no potential conflicts of interest.

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Arar, A.M., DeLay, K., Leiman, D.A. et al. Esophageal Manifestations of Dermatological Diseases, Diagnosis, and Management. Curr Treat Options Gastro 20, 513–528 (2022). https://doi.org/10.1007/s11938-022-00399-6

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