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Pruritic Lichenified Plaques on the Legs of a Man

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A man in his 50s presented with a history of pruritic lesions of the lower legs over the past 15 years that were unresponsive to topical corticosteroid therapy. On examination, he had multiple lichenified and ulcerated papules and nodules, some of them grouped in plaques located on the medial aspect of both shins (Figure, A). Occasional tense blisters were also seen (Figure, B). The patient’s family history was significant for similar cutaneous lesions in his father, brother, and cousin. Mild toenail dystrophy was also observed. A punch biopsy from the shin for histopathologic examination was performed (Figure, C and D).

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C. Pretibial epidermolysis bullosa

Histopathologic examination showed dermoepidermal detachment and scarce lymphohistiocytic inflammatory infiltrate in perivascular distribution in papillary dermis. Given the clinicopathological suspicion of pretibial epidermolysis bullosa (PEB), a genetic study was requested, which confirmed a heterozygous pathogenic sequence variation in the protein p.Lys2562Asn from the COL7A1 gene (OMIM 120120). The same variant was found in his 14-year-old son, who remains asymptomatic, while the rest of the family could not be reached.

Pretibial epidermolysis bullosa is an uncommon variant of dystrophic epidermolysis bullosa first described in 1946 by Kuske.1 It is characterized by the presence of localized pretibial lesions, with blisters and erosions, scarring, and atrophic or lichenoid papules or plaques. This mechanobullous genodermatosis results from sequence variations occurring in the COL7A1 gene. The latter encodes type VII collagen, the main constituent of the anchoring fibrils, which participate in the adherence of the lamina densa to the epidermis. The exact pathophysiological mechanism of PEB remains unknown, but some in vitro studies found an association between the peculiar phenotype of PEB and increased endoplasmic reticulum stress in keratinocytes.2

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Article Information

Corresponding Author: Eva M. Sánchez-Martínez, MD, Department of Dermatology, Hospital Universitario Doctor Peset, C/ Juan de Garay 21, 46017 Valencia, Spain (eva.sanchez.m.92@gmail.com).

Published Online: June 9, 2021. doi:10.1001/jamadermatol.2021.1785

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank the patient for granting permission to publish this information.

References
1.
Kuske  H .  Epidermolysis traumatica, regionally over both tibiae leading to atrophy, with dominant inheritance.  [Article in German].  Dermatologica. 1946;92(5-6):304-305.PubMedGoogle Scholar
2.
Hattori  M , Shimizu  A , Oikawa  D ,  et al.  Endoplasmic reticulum stress in the pathogenesis of pretibial dystrophic epidermolysis bullosa.   Br J Dermatol. 2017;177(4):e92-e93. doi:10.1111/bjd.15342 PubMedGoogle ScholarCrossref
3.
Masunaga  T , Kubo  A , Ishiko  A .  Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial.   J Dermatol. 2018;45(6):742-745. doi:10.1111/1346-8138.14271 PubMedGoogle ScholarCrossref
4.
Fine  JD , Bruckner-Tuderman  L , Eady  RA ,  et al.  Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.   J Am Acad Dermatol. 2014;70(6):1103-1126. doi:10.1016/j.jaad.2014.01.903 PubMedGoogle ScholarCrossref
5.
Has  C , Liu  L , Bolling  MC ,  et al.  Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.   Br J Dermatol. 2020;182(3):574-592. doi:10.1111/bjd.18128 PubMedGoogle ScholarCrossref
6.
Tziotzios  C , Lee  JYW , Brier  T ,  et al.  Lichen planus and lichenoid dermatoses: clinical overview and molecular basis.   J Am Acad Dermatol. 2018;79(5):789-804. doi:10.1016/j.jaad.2018.02.010 PubMedGoogle ScholarCrossref
7.
Tietze  JK , Heppt  MV , Flaig  MJ , Thomas  P .  Successful treatment of lichen amyloidosus with oral alitretinoin.   J Eur Acad Dermatol Venereol. 2016;30(5):884-885. doi:10.1111/jdv.13048 PubMedGoogle ScholarCrossref
8.
Tittelbach  J , Peckruhn  M , Elsner  P .  Histopathological patterns in dermatitis artefacta.   J Dtsch Dermatol Ges. 2018;16(5):559-564. doi:10.1111/ddg.13504 PubMedGoogle ScholarCrossref
9.
Uitto  J , Bruckner-Tuderman  L , McGrath  JA , Riedl  R , Robinson  C .  EB2017—progress in epidermolysis bullosa research toward treatment and cure.   J Invest Dermatol. 2018;138(5):1010-1016. doi:10.1016/j.jid.2017.12.016 PubMedGoogle ScholarCrossref
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