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CORRESPONDENCE |
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| Year : 2022 | Volume
: 67
| Issue : 1 | Page : 72-74 |
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| New onset mitral regurgitation caused by mitral valve prolapse in a male patient with dominant pretibial dystrophic epidermolysis bullosa |
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Pinar Incel Uysal1, Neslihan Akdogan2, Busra Cavdarli3, Devrim Kahraman4, Berkten Berkalp5, Ozay Gokoz6
1 Department of Dermatology and Venerology, Faculty of Medicine, TOBB Economics and Technology University, Ankara, Turkey
2 Department of Dermatology and Venerology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
3 Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey
4 Department of Pathology, Faculty of Medicine, TOBB Economics and Technology University, Ankara, Turkey
5 Department of Cardiology, Faculty of Medicine, TOBB Economics and Technology University, Ankara, Turkey
6 Department of Pathology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
| Date of Web Publication | 19-Apr-2022 |
Correspondence Address:
Pinar Incel Uysal
Department of Dermatology and Venerology, Faculty of Medicine, TOBB Economics and Technology University, Ankara
Turkey
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/ijd.ijd_176_21
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How to cite this article:
Uysal PI, Akdogan N, Cavdarli B, Kahraman D, Berkalp B, Gokoz O. New onset mitral regurgitation caused by mitral valve prolapse in a male patient with dominant pretibial dystrophic epidermolysis bullosa. Indian J Dermatol 2022;67:72-4 |
How to cite this URL:
Uysal PI, Akdogan N, Cavdarli B, Kahraman D, Berkalp B, Gokoz O. New onset mitral regurgitation caused by mitral valve prolapse in a male patient with dominant pretibial dystrophic epidermolysis bullosa. Indian J Dermatol [serial online] 2022 [cited 2023 Jun 4];67:72-4. Available from: https://www.e-ijd.org/text.asp?2022/67/1/72/343266 |
Sir,
Dominant pretibial dystrophic epidermolysis bullosa (DDEB-Pt) (Online Mendelian Inheritance in Man #131850), which results from mutation of COL7A1 on chromosome 3p21 and shortened collagen VII polypeptides, is an extremely rare subtype of dystrophic epidermolysis bullosa.
A 37-year-old man presented with recalcitrant itchy papules on his shins for 12 years. Clinical examination revealed lichenoid shiny coalescing papules some with tiny excoriations [Figure 1]a, [Figure 1]b. Transverse ridging, hyperkeratosis, lateral deviation, and greenish discoloration were observed on his bilateral great toenails [Figure 1]c. He had been repeatedly treated with topical steroids under the diagnosis of lichen planus with minimal improvement and frequent recurrence. There was no significant medical history; however, he reported sudden onset palpitations for a week. He was consulted by cardiology department. On the basis of cardiac auscultation and the findings of ecocardiography and Holter electrocardiography, mitral regurgitation caused by mitral valve prolapse and premature ventricular contractions were noted. Skin biopsy showed subepidermal cleft, chronic dermal inflammation and multiple milia [Figure 2]. Direct immunoflourescence test was negative. On the basis of the findings, as the lesions were mainly located on the shins and presence of associated nail dystrophy, the initial diagnosis of DDEB-Pt was made. | Figure 1: Lichenoid papules on pretibial skin (a), Closer view of shiny livedoid papules some with crusts and (b) Onychogryphosis of the great toe-nails (c)
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 | Figure 2: Subepidermal clefting containing serous fluid and fibrin and edema within the adjacent dermis. Additionally, there were multiple cystic structures within the dermis, beneath the bulla. Cysts were lined by stratified squamous epithelium and contained intraluminal keratinous accumulations. (Hematoxylin-eosin stain, original magnification ×40)
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To confirm the diagnosis of DDEB-Pt, a targeted next-generation sequencing panel (Qiagen, Hilden, Germany) of EB-related genes (CAST, CD151, CDSN, CSTA, CHST8, COL17A1, COL7A1, DSP, DST, EXPH 5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC, SERPINB8, and TGM5) was performed on Illumina Miseq Platform. Molecular diagnosis confirmed DDEB-Pt in the patient with a heterozygous missense variation on COL7A1 (NM_000094.4) gene: c. 6082G > A (p.G2028R). This mutation has replaced in a mutational hotspot region (Triple-helical region) of the gene and has not been found any healthy population.[1]
Our patient was unique because of some aspects. Although much more commonly patients present with trauma-induced blisters, erosions, and impaired wound healing, our case of DDEB-Pt presented with gradually increasing lichenoid eruption. He was misdiagnosed as having lichen planus for a long time with subsequent inappropriate management. Because of nail bed, scarring and hyperkeratosis nail involvement is frequent in DEB. In our patient, we observed thickened, opaque, yellowish great toenail with deviation as it is called onychogryphosis. Tosti et al.[2] have reported that onychogryphosis is usually limited to the great toenails and seen in EB simplex and junctional EB.
It has been rarely reported that severe generalized DEB forms, in particular, recessive DEB (RDEB), are associated with dilated cardiomyopathy.[3] To date, the association of PT-DEB and mitral valve prolapse (MVP) has not been reported; however, MVP and aortic valvular degeneration in association with RDEB have been notified.[4] In another study mitral regurgitation as a result of myxomatous changes has been documented in RDEB.[5] Considering the fact that MVP is the most common valve abnormality in the general population with the prevalence of 3–5%, coexistence of two conditions may be incidental. On the other hand, it has been speculated that abnormality of collagen metabolism may result in valvular degeneration in patients with EB. Here, we would like to highlight a possible relationship between PT-DEB and MVP.
Acknowledgements
The patient in this article has given written informed consent to publication of their case details.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
 References | |  |
| 1. | Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alfoldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 2020;581:434-43.  |
| 2. | Tosti A, de Farias DC, Murrell DF. Nail involvement in epidermolysis bullosa. Dermatol Clin 2010;28:153-7. |
| 3. | Fine JD, Hall M, Weiner M, Li KP, Suchindran C. The risk of cardiomyopathy in inherited epidermolysis bullosa. Br J Dermatol 2008;159:677-82. |
| 4. | Horev L, Waran Lalin T, Martinez-Mir A, Bagheri BA, Tadin-Strapps M, Schneiderman PI, et al. Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency. Clin Exp Dermatol 2003;28:80-4. |
| 5. | Hamada T, Fukuda S, Ishii N, Abe T, Nagata K, Koro O, et al. A Japanese family with dominant pretibial dystrophic epidermolysis bullosa: Identification of a new glycine substitution in the triple-helical collagenous domain of type VII collagen. J Dermatol Sci 2009;54:212-4. |
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