Urticaria pigmentosa complicated with esophageal eosinophilia
Authors: Rirei Nin-Asai, Michihiro Kono, Masashi Akiyama
Journal: Journal of the American Academy of Dermatology (2014)

To the Editor: Mastocytosis is defined as an accumulation of clonal mast cells, and it may involve only the skin (urticaria pigmentosa, UP) or it may have a systemic presentation with multiorgan involvement. We report a patient with UP associated with esophageal eosinophilia. A 20-year-old man was referred to our hospital with an 8-year history of itchy eruptions. He had intense itching after rubbing the lesions. He had had no episodes of diarrhea, abdominal pain, dysphagia, or gastroesophageal reflux disease (GERD)-like symptoms. Physical examination revealed multiple round brownish macules of less than 1 cm in diameter on the trunk and extremities (Fig 1). Darier sign was positive. Skin biopsy showed dense mast cell infiltrates in the dermis. They were CD117 (c-KIT) positive. Laboratory analyses showed a white blood cell count of 4600/μL, eosinophils at 6.6%, IgE at 737 IU/L, a total tryptase level of 2.2 μg/mL, and a histamine level of 1.52 ng/mL (normal range: 0.15 to 1.23). To exclude systemic mastocytosis with multiorgan involvement, we performed computed tomography scans and endoscopic examinations. Upper gastrointestinal endoscopy revealed white linear furrows on the esophageal mucosa (Fig 2). Biopsy specimens from the esophageal mucosa showed dense eosinophilic infiltrates at more than 20 eosinophils per high-power field, and the specimens also contained sparsely infiltrating tryptase-positive mast cells. The infiltrating mast cells aberrantly expressed CD2. No activating germline KIT mutations were detected in the patient's peripheral blood cells. Under the diagnosis of UP complicated with esophageal eosinophilia, we have been following up the patient every half-year without medication. Eosinophilic esophagitis (EoE) can be diagnosed based on clinical and histopathologic features.1Furuta G.T. Liacouras C.A. Collins M.H. Gupta S.K. Justinich C. Putnam P.E. et al.Eosinophilic esophagitis in children and adults: a systematic review and consensus recommendations for diagnosis and treatment.Gastroenterology. 2007; 133: 1342-1363Abstract Full Text Full Text PDF PubMed Scopus (1391) Google Scholar, 2Liacouras C.A. Furuta G.T. Hirano I. Atkins D. Attwood S.E. Bonis P.A. et al.Eosinophilic esophagitis: updated consensus recommendations for children and adults.J Allergy Clin Immunol. 2011; 128: 3-20Abstract Full Text Full Text PDF PubMed Scopus (1610) Google Scholar Clinically, symptoms of esophageal dysfunction are characteristic of EoE. Histopathologically, eosinophil-predominant infiltration is seen in esophageal biopsy specimens.1Furuta G.T. Liacouras C.A. Collins M.H. Gupta S.K. Justinich C. Putnam P.E. et al.Eosinophilic esophagitis in children and adults: a systematic review and consensus recommendations for diagnosis and treatment.Gastroenterology. 2007; 133: 1342-1363Abstract Full Text Full Text PDF PubMed Scopus (1391) Google Scholar, 2Liacouras C.A. Furuta G.T. Hirano I. Atkins D. Attwood S.E. Bonis P.A. et al.Eosinophilic esophagitis: updated consensus recommendations for children and adults.J Allergy Clin Immunol. 2011; 128: 3-20Abstract Full Text Full Text PDF PubMed Scopus (1610) Google Scholar Various conditions presenting esophageal eosinophilia, including GERD, should be excluded. The present case could not be diagnosed as EoE, because the patient had no apparent symptoms of esophageal dysfunction, although dense eosinophilic infiltration was seen in the esophageal biopsy specimens and the endoscopic features were consistent with EoE. The patient had no other disorders that might cause esophageal eosinophilia, and we cannot completely exclude the possibility that the patient's condition will progress to EoE in the future. Chemical mediators released from mast cells are well known to induce eosinophilic infiltration. TGF-β1, which is expressed by both eosinophils and mast cells, has been recognized as an important molecular mediator of EoE.3Abonia J.P. Franciosi J.P. Rothenberg M.E. TGF-β1: mediator of a feedback loop in eosinophilic esophagitis—or should we really say mastocytic esophagitis?.J Allergy Clin Immunol. 2010; 126: 1205-1207Abstract Full Text Full Text PDF PubMed Scopus (26) Google Scholar Abonia et al4Abonia J.P. Blanchard C. Butz B.B. Rainey H.F. Collins M.H. Stringer K. et al.Involvement of mast cells in eosinophilic esophagitis.J Allergy Clin Immunol. 2010; 126: 140-149Abstract Full Text Full Text PDF PubMed Scopus (224) Google Scholar provided evidence for the involvement of KIT ligand in the pathogenesis of EoE. Niranjan et al5Niranjan R. Mavi P. Rayapudi M. Dynda S. Mishra A. Pathogenic role of mast cells in experimental eosinophilic esophagitis.Am J Physiol Gastrointest Liver Physiol. 2013; 304: G1087-G1094Crossref PubMed Scopus (63) Google Scholar reported that mast cells play a critical role in muscular cell hyperplasia and possibly in the esophageal functional impairment of EoE. In this context, mast cell infiltration in the esophagus and/or the skin may have triggered the onset of esophageal eosinophilia in the present case, although the mast cell infiltration in the esophagus was sparse and the esophagus was not apparently involved in the mastocytosis. The present case might indicate an association between UP and esophageal eosinophilia.