Cutaneous Involvement by Refractory Celiac Disease Type 2 Histologically Mimicking Mycosis Fungoides.
Journal
The American Journal of dermatopathology
ISSN: 1533-0311
Titre abrégé: Am J Dermatopathol
Pays: United States
ID NLM: 7911005
Informations de publication
Date de publication:
12 Jul 2024
12 Jul 2024
Historique:
medline:
15
7
2024
pubmed:
15
7
2024
entrez:
15
7
2024
Statut:
aheadofprint
Résumé
Refractory celiac disease (RCD) is a rare condition characterized by persistent malabsorptive symptoms and villous atrophy despite a gluten-free diet. While RCD type 1 has a normal intraepithelial lymphocyte phenotype, RCD type 2 is defined by the presence of immunophenotypically aberrant and monoclonal intraepithelial T lymphocytes, with a high propensity to transform to enteropathy-associated T-cell lymphoma (EATL). Although dermatological manifestations of celiac disease are common, presentation with cutaneous involvement by abnormal lymphocytes of RCD type 2 or EATL is rare, with few histologic descriptions in the literature. We describe the case of a 66-year-old man with a history of celiac disease presenting with a generalized, erythematous papular rash over his torso, upper arms, and legs. Biopsy of his skin lesions showed prominent hyperkeratosis with underlying spongiosis and interface change. Increased intraepithelial (epidermotropic) lymphocytes were observed, out of proportion to the level of spongiosis, but not overly atypical in appearance. Immunohistochemistry revealed an aberrant T-cell immunophenotype (CD3/2/7 positive; CD5/4/8 negative), raising suspicion for a cutaneous T-cell lymphoproliferative disorder. A duodenal biopsy demonstrated total villous atrophy with a morphologically bland population of epitheliotropic T lymphocytes showing the same aberrant immunophenotype. Similar cells were also identified by flow cytometry in the peripheral blood. In conjunction with the history of celiac disease, a diagnosis of RCD type 2 or 'EATL in situ' with cutaneous involvement was made. Cutaneous RCD type 2 or EATL should be considered as differential diagnoses in patients with a history of celiac disease and histopathology reminiscent of epidermotropic forms of cutaneous T-cell lymphoma.
Identifiants
pubmed: 39008507
doi: 10.1097/DAD.0000000000002793
pii: 00000372-990000000-00390
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest.
Références
Rubio-Tapia A, Murray JA. Classification and management of refractory coeliac disease. Gut. 2010;59:547–557.
Malamut G, Afchain P, Verkarre V, et al. Presentation and long-term follow-up of refractory celiac disease: comparison of type I with type II. Gastroenterology. 2009;136:81–90.
Pastre J, Juvin K, Malamut G, et al. Phenotypically aberrant clonal T cells in the lungs of patients with type II refractory celiac disease. Blood. 2014;123:3674–3675.
Verbeek WH, von Blomberg BM, Coupe VM, et al. Aberrant T-lymphocytes in refractory coeliac disease are not strictly confined to a small intestinal intraepithelial localization. Cytometry B Clin Cytom. 2009;76:367–374.
Verkarre V, Asnafi V, Lecomte T, et al. Refractory coeliac sprue is a diffuse gastrointestinal disease. Gut. 2003;52:205–211.
Liu H, Fofaria RK, Greenfield SM, et al. The aberrant intraepithelial T cells in refractory coeliac disease show epidermotropism. J Clin Pathol. 2014;67:380–382.
Malamut G, Chandesris O, Verkarre V, et al. Enteropathy associated T cell lymphoma in celiac disease: a large retrospective study. Dig Liver Dis. 2013;45:377–384.
Massone C, Kodama K, Kerl H, et al. Histopathologic features of early (patch) lesions of mycosis fungoides: a morphologic study on 745 biopsy specimens from 427 patients. Am J Surg Pathol. 2005;29:550–560.
Sanchez JL, Ackerman AB. The patch stage of mycosis fungoides. Criteria for histologic diagnosis. Am J Dermatopathol. 1979;1:5–26.
Hodak E, David M, Maron L, et al. CD4/CD8 double-negative epidermotropic cutaneous T-cell lymphoma: an immunohistochemical variant of mycosis fungoides. J Am Acad Dermatol. 2006;55:276–284.
Willemze R, Cerroni L, Kempf W, et al. The 2018 update of the WHO-EORTC classification for primary cutaneous lymphomas. Blood. 2019;133:1703–1714.
Crowson AN, Magro CM, Zahorchak R. Atypical pigmentary purpura: a clinical, histopathologic, and genotypic study. Hum Pathol. 1999;30:1004–1012.
Toro JR, Sander CA, LeBoit PE. Persistent pigmented purpuric dermatitis and mycosis fungoides: simulant, precursor, or both? A study by light microscopy and molecular methods. Am J Dermatopathol. 1997;19:108–118.
Everett MA. Early diagnosis of Mycosis fungoides: vacuolar interface dermatitis. J Cutan Pathol. 1985;12:271–278.
Naraghi ZS, Seirafi H, Valikhani M, et al. Assessment of histologic criteria in the diagnosis of mycosis fungoides. Int J Dermatol. 2003;42:45–52.
de Unamuno Bustos B, Ferriols AP, Sanchez RB, et al. Adult pityriasis lichenoides-like mycosis fungoides: a clinical variant of mycosis fungoides. Int J Dermatol. 2014;53:1331–1338.
Magro CM, Crowson AN. Drug-induced immune dysregulation as a cause of atypical cutaneous lymphoid infiltrates: a hypothesis. Hum Pathol. 1996;27:125–132.