10.5826/dpc.1303a158
text/xml
2160-9381
3016
en
Bryan Edgar Guevara
https://creativecommons.org/licenses/by-nc/4.0
Dermatology Practical & Conceptual
Adult-Onset Epidermolysis Bullosa Pruriginosa in a 52-Year-Old Filipino Female: A Case Report
Text.Serial.Journal
https://dpcj.org/index.php/dpc
Image Letter
2023-07-31
2022-11-22
2023-07-31
2023-08-24
e2023158
Dermatol Pract Concept
Bryan Edgar Guevara
2023/07/31
10.5826/dpc.1303a158
e2023158
Department of Dermatology, Southern Philippines Medical Center, Davao City, Philippines
2160-9381
en
e2023158
Nijhawan, M., Agarwal, S., Nijhawan, S., Jhangra, R., Goel, P., & Sehgal, V. N. Epidermolysis bullosa pruriginosa a Clinico-pathological study in an index case, highlighting its affliction in 11 of 27 member of the family. Journal of Dermatology & Dermatologic Surgery, 2017. 21(2), 100–103. https://doi.org/10.1016/j.jdds.2017.04.002.
Adult-Onset Epidermolysis Bullosa Pruriginosa in a 52-Year-Old Filipino Female: A Case Report
https://dpcj.org/index.php/dpc/article/download/3016/2233
      Adult-Onset Epidermolysis Bullosa Pruriginosa
      in a 52-Year-Old Filipino Female: A Case Report
        Brice Patangan Serquiña1, Niña Aala Gabaton1, Yu-Chen Lin2,3, Han-Tang Wang2,
                           Chao-Kai Hsu2, Bryan Edgar Ko Guevara1


1 Department of Dermatology, Southern Philippines Medical Center, Davao City, Philippines
2 Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University,
   Tainan, Taiwan
3 International Center for Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan



Citation: Serquiña BP, Gabaton NA, Lin YC, Wang HT, Hsu CK, Guevara BEK. Adult-Onset Epidermolysis Bullosa Pruriginosa in a
52-Year-Old Filipino Female: A Case Report. Dermatol Pract Concept. 2023;13(3):e2023158. DOI: https://doi.org/10.5826/dpc.1303a158
Accepted: January 22, 2023; Published: July 2023
Copyright: ©2023 Serquiña et al. This is an open-access article distributed under the terms of the Creative Commons Attribution-
NonCommercial License (BY-NC-4.0), https://creativecommons.org/licenses/by-nc/4.0/, which permits unrestricted noncommercial use,
distribution, and reproduction in any medium, provided the original authors and source are credited.
Funding: None.
Competing interests: None.
Authorship: All authors have contributed significantly to this publication.
Corresponding author: Bryan Edgar K. Guevara, MD, FPDS, FDSP-PDS, Consultant, Department of Dermatology, Southern Philippines
Medical Center, Davao City, Philippines. E-mail: bry0529@yahoo.com




Case Presentation                                                        heterozygous for a nonsense and another splice-site mutation
                                                                         in COL7A1. In silico splicing effect prediction of COL7A1:
A 52-year-old Filipino female presented with a 29-year                   c.7485G>A indicates that COL7A1 protein translation may
history of a recurrent pruritic erythematous blisters which              be affected. These results confirmed the diagnosis of epider-
evolved into coalescent nodules and plaques on the lower                 molysis bullosa (EB) pruriginosa.
extremities. She was previously treated with topical and in-
tralesional steroid injection with partial resolution. Two of            Teaching Point
her siblings were affected with similar lesions. Upon physical
examination, there were multiple erythematous to hyperpig-               EB pruriginosa manifests as prurigo-like plaques and nod-
mented prurigo-like lesions with excoriations on both dis-               ules with pruritus [1,2]. Histopathology findings of a sub-
tal legs, dorsum of feet and forearms. Nail dystrophy was                epidermal blister, negative DIF findings, and a COL7A1
noted on all toes (Figure 1, A and B). Histopathological ex-             mutation confirms the diagnosis [2]. We present a rare case
amination showed a hyperkeratosis overlying an acanthotic                which can be misdiagnosed as prurigo nodularis. However,
epidermis associated with a cell-poor subepidermal blister               the chronicity of the lesions, partial and temporary relief
and fibrotic changes with abundant blood vessels on the                  to topical and intralesional steroids, affectation of siblings,
superficial dermis (Figure C). Direct immunofluorescence                 prompted further investigation. Histopathology, DIF studies
(DIF) results showed negative findings. Genetic testing of               and COL7A1 gene mutation confirmed the diagnosis of this
her blood samples revealed that the proband was compound                 rare and challenging case.




Image Letter | Dermatol Pract Concept. 2023;13(3):e2023158                                                                            1
Figure 1. (A) Multiple erythematous to hyperpigmented prurigo-like lesions with linear excoriations on both distal legs and dorsum of feet
associated with nail dystrophy on all toes. (B) A closer view of the prurigo-like linear lesions on the left leg. (C) Histopathology, H&E 4x.
Cell-poor subepidermal blister.



References                                                               2. Nijhawan M, Agarwal ., Nijhawan ., Jhangra R, Goel P,
                                                                             Sehgal VN. Epidermolysis bullosa pruriginosa a Clinico
 1. Pai VV, Sori T, Naveen KN, Athanikar SB, Rai V, Shastry DU.              -pathological study in an index case, highlighting its affliction
    Epidermolysis bullosa pruriginosa: A report of two cases. ­Indian        in 11 of 27 member of the family. Journal of Dermatology &
    Dermatol Online J. 2014;5(1):44-47. DOI: 10.4103/2229                    ­Dermatologic Surgery. 2017;21(2):100–103. DOI: 10.1016/j
    -5178.126030. PMID: 24616855. PMCID: PMC3937487.                          .jdds.2017.04.002.




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