Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 6, 2021; 9(13): 3090-3094
Published online May 6, 2021. doi: 10.12998/wjcc.v9.i13.3090
Misdiagnosed dystrophic epidermolysis bullosa pruriginosa: A case report
Zi Wang, Yi Lin, Xing-Wu Duan, Hai-Yan Hang, Xia Zhang, Ling-Ling Li
Zi Wang, Yi Lin, Xing-Wu Duan, Hai-Yan Hang, Xia Zhang, Ling-Ling Li, Department of Dermatology, Dongzhimen Hospital Affiliated to Beijing University of Chinese Medicine, Beijing 100000, China
Author contributions: Wang Z and Lin Y drafted the manuscript and were involved in the conceptualization and submission of the manuscript; Duan XW, Hang HY, and Zhang X analyzed the data; Li LL treated the patient and revised the manuscript; all authors approved the final version of this manuscript.
Supported by National Natural Science Foundation of China, No. 81874393.
Informed consent statement: The patient involved in this study provided informed consent.
Conflict-of-interest statement: All authors declare that they have no conflicts of interest to report.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Ling-Ling Li, PhD, Doctor, Department of Dermatology, Dongzhimen Hospital Affiliated to Beijing University of Chinese Medicine, No. 5 Haiyuncang Road, Dongcheng District, Beijing 100000, China. linglingli1980@163.com
Received: October 15, 2020
Peer-review started: October 15, 2020
First decision: January 24, 2021
Revised: January 28, 2021
Accepted: February 26, 2021
Article in press: February 26, 2021
Published online: May 6, 2021
Processing time: 187 Days and 7.8 Hours
Abstract
BACKGROUND

Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of DEB, characterized by recurrent pruritus of the extremities, pruritus papules, nodules, and mossy-like plaques. To date, fewer than 100 cases have been reported. We report a misdiagnosed 30-year-old man with sporadic late-onset DEB-Pr who responded well to tacrolimus treatment, thereby serving as a guide to correct diagnosis and treatment.

CASE SUMMARY

A 30-year-old man presented with recurrent itching plaques of 1-year duration in the left tibia that aggravated and involved both legs and the back. Examination revealed multiple symmetrical, purple, and hyperpigmented papules and nodules with surface exfoliation involving the tibia and dorsum of the neck with negative Nissl's sign, no abnormalities in the skin, mucosa, hair, or fingernail, and no local lymph node enlargement. Blisters were never reported prior to presentation. Serum immunoglobulin E level was 636 IU/mL. Clinical manifestations suggested DEB-Pr. Histological examination showed subepidermal fissure, scar tissue, and milia. Direct immunofluorescence showed no obvious abnormalities. However, we were unable to perform electron microscopy or genetic research following his choice. We treated him with topical tacrolimus. After 2 wk, the itching alleviated, and the skin lesions began to subside. No adverse reactions were observed during treatment.

CONCLUSION

Topical tacrolimus is a safe treatment option for patients with DEB-Pr and can achieve continuous relief of severe itching.

Keywords: Differential diagnoses; Dystrophic epidermolysis bullosa pruriginosa; Pruritus; Nodular prurigo; Histopathological examinations; Case report

Core Tip: At present, fewer than 100 cases of dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) have been reported. Delayed cases coupled with diversity of skin lesions make the diagnosis difficult. We report a late-onset case in which the patient did not develop the disease until the age of 30 years. There were no associated skin lesions in children and adulthood, and no family history was reported. The case was misdiagnosed many times, suggesting the importance of skin histopathology in diagnosing DEB-Pr. This patient was successfully treated with tacrolimus.