Case and Research Letter
Blepharochalasis: A Rare Presentation of Cutis Laxa
Blefarocalasia: una presentación rara de cutis laxo
S.G. Dantas, B.M. Trope, T.C. de Magalhães, D.R. Azulay, D.C. Quintella, M. Ramos-e-Silva
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Servicio de Dermatología, Hospital Universitario, Escuela de Medicina, Universidad Federal de Río de Janeiro, Río de Janeiro, Brasil
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Dantas, B.M. Trope, T.C. de Magalhães, D.R. Azulay, D.C. Quintella, M. Ramos-e-Silva" "autores" => array:6 [ 0 => array:2 [ "nombre" => "S.G." "apellidos" => "Dantas" ] 1 => array:2 [ "nombre" => "B.M." "apellidos" => "Trope" ] 2 => array:2 [ "nombre" => "T.C." "apellidos" => "de Magalhães" ] 3 => array:2 [ "nombre" => "D.R." "apellidos" => "Azulay" ] 4 => array:2 [ "nombre" => "D.C." "apellidos" => "Quintella" ] 5 => array:4 [ "nombre" => "M." "apellidos" => "Ramos-e-Silva" "email" => array:1 [ 0 => "ramos.e.silva@dermato.med.br" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Servicio de Dermatología, Hospital Universitario, Escuela de Medicina, Universidad Federal de Río de Janeiro, Río de Janeiro, Brasil" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Blefarocalasia: una presentación rara de cutis laxo" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 802 "Ancho" => 650 "Tamanyo" => 70476 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Eyelid redundancy.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Cutis laxa is a congenital or acquired connective tissue disorder characterized by extracellular matrix and elastic fiber defects. It manifests clinically as sagging skin, giving an appearance of premature aging. Blepharochalasis is an acquired form of cutis laxa that affects the periorbital region. It normally starts in childhood or adolescence and is characterized by recurrent episodes of painless eyelid swelling. Repeated acute attacks lead to elastin fiber degradation and sagging skin in the periorbital region that can interfere with vision. The pathogenesis of blepharochalasis or blepharoptosis is still unclear, although a role has been proposed for immunopathogenic mechanisms that result in elastin fiber degradation.<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1,2</span></a> Grassegger et al<span class="elsevierStyleItalic">.</span><a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a> and Schaeppi et al<span class="elsevierStyleItalic">.</span><a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">2</span></a> reported immunoglobulin A (IgA) deposits around blood vessels and sweat glands and in the papillary dermis. The second group of authors also found IgA deposits in elastic fibers around hair follicles. Histopathology shows disperse fragmented, granular elastic fibres in the reticular dermis.</p><p id="par0010" class="elsevierStylePara elsevierViewall">The differential diagnosis in blepharochalasis should include inflammatory diseases (contact dermatitis, angioedema, blepharitis, and hereditary angioedema), tumors (retrobulbar tumor or lacrimal gland tumor/cyst), systemic diseases (thyroid and kidney disease), other extracellular matrix diseases (Ehlers-Danlos syndrome, elastic pseudoxanthoma, mid-dermal elastolysis, anetodermia, and postinflammatory elastolysis), and even physiologic aging. The condition can also form part of syndromes, such as Ascher syndrome, which is characterized by blepharochalasis, double lip, and nontoxic goiter.</p><p id="par0015" class="elsevierStylePara elsevierViewall">The treatment for blepharochalasis is reconstructive surgery with cosmetic and therapeutic intent, but recurrence is common.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">In this article, we describe the case of a young man with blepharochalasis as a clinical presentation of acquired cutis laxa.</p><p id="par0025" class="elsevierStylePara elsevierViewall">A 24-year-old man presented with looseness of the upper eyelids that had become progressively worse over 8 years. The sagging was such that it had caused considerable cosmetic damage. The patient reported that he had experienced several episodes of eyelid swelling over a period of more than 2 years before his eyelids began to sag. He had not received any treatment and reported no other problems. Skin examination showed loose skin on both upper eyelids (more pronounced on the right) and partial occlusion of the eyelashes. The skin in the upper eyelid region was atrophic and had a violaceous color (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). Vision was not affected by the blepharoptis. The patient confirmed that the condition had not been treated medically. Biopsy of the eyelids (with hematoxylin-eosin staining) showed just slight swelling of the upper dermis. Orcein staining showed absence of elastic fibers (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>). IgA was positive in the dermal vessel walls. Computed tomography of the orbits, a chest X-ray, and laboratory tests were all normal. The patient underwent upper blepharoplasty (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>) and the cosmetic and functional results during follow-up were excellent. He reported that his field of vision had improved, particularly the upper field as his eyes were no longer covered by the sagging eyelids.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0030" class="elsevierStylePara elsevierViewall">Blepharochalasis is an uncommon clinical presentation of cutis laxa characterized by painless episodes of bilateral edema.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">4</span></a> The condition is generally self-limiting and does not respond to antihistamines or corticosteroids. During the quiescent stage of disease and following several acute attacks, it progresses to cause bilateral loss of periorbital skin.<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">5</span></a> There may be violaceous coloring on the upper eyelids.<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">6</span></a> In our patient, this coloring led to consideration of dermatomyositis in the differential diagnosis.</p><p id="par0035" class="elsevierStylePara elsevierViewall">The pathophysiology of blepharochalasis remains elusive. Inflammatory episodes are believed to give rise to elastic fiber degradation due to elastolysis triggered by increased elastase activity or impaired elastase inhibitor function.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a> Systemic manifestations have not been observed in the vast majority of cases.<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">7</span></a> In line with previously described findings, IgA deposits, which probably have a pathogenic role, were observed in the blood vessel walls.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">Proposed triggers include stress, fever, and upper respiratory tract infections, among others.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a> A more specific immune mechanism associated with elastin and collagen degradation by metalloproteases may also be involved .<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">The recommended treatment is blepharoplasty with cosmetic or therapeutic intent. Ideally, surgery should be performed during the quiescent disease stage.<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">8</span></a> Unlike most connective tissue diseases, cutis laxa does not usually interfere with postoperative recovery.<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">9</span></a> Patient follow-up is necessary, however, given the risk of recurrence.<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">10</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">Blepharochalasis must be contemplated in the differential diagnosis of skin disorders that affect the periorbital region. Correct diagnosis is important for ensuring adequate treatment and follow-up.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflicts of Interest</span><p id="par0055" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflicts of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Conflicts of Interest" ] 1 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Dantas SG, Trope BM, de Magalhães TC, Azulay DR, Quintella DC, Ramos-e-Silva M. Blefarocalasia: una presentación rara de cutis laxo. Actas Dermosifiliogr. 2019;110:327–329.</p>" ] ] "multimedia" => array:3 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 802 "Ancho" => 650 "Tamanyo" => 70476 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Eyelid redundancy.</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 987 "Ancho" => 652 "Tamanyo" => 172017 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Histopathologic study of eyelid skin. A, The only remarkable finding was mild edema in the upper dermis (hematoxylin-eosin, original magnification<span class="elsevierStyleHsp" style=""></span>×<span class="elsevierStyleHsp" style=""></span>40). B, Absence of elastic fibers in the eyelid dermis (orcein, original magnification<span class="elsevierStyleHsp" style=""></span>×<span class="elsevierStyleHsp" style=""></span>100).</p>" ] ] 2 => array:7 [ "identificador" => "fig0015" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 1156 "Ancho" => 650 "Tamanyo" => 84399 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Excellent results after blepharoplasty.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:10 [ 0 => array:3 [ "identificador" => "bib0055" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Immunglobulin A (IgA) deposits in lesional skin of a patient with blepharochalasis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "A. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 6 | 6 | 12 |
| 2024 October | 106 | 51 | 157 |
| 2024 September | 121 | 26 | 147 |
| 2024 August | 124 | 60 | 184 |
| 2024 July | 100 | 43 | 143 |
| 2024 June | 117 | 35 | 152 |
| 2024 May | 99 | 35 | 134 |
| 2024 April | 106 | 21 | 127 |
| 2024 March | 115 | 43 | 158 |
| 2024 February | 88 | 45 | 133 |
| 2024 January | 94 | 35 | 129 |
| 2023 December | 72 | 28 | 100 |
| 2023 November | 131 | 34 | 165 |
| 2023 October | 127 | 26 | 153 |
| 2023 September | 81 | 36 | 117 |
| 2023 August | 67 | 15 | 82 |
| 2023 July | 82 | 38 | 120 |
| 2023 June | 90 | 29 | 119 |
| 2023 May | 80 | 32 | 112 |
| 2023 April | 64 | 23 | 87 |
| 2023 March | 87 | 38 | 125 |
| 2023 February | 71 | 22 | 93 |
| 2023 January | 64 | 22 | 86 |
| 2022 December | 68 | 40 | 108 |
| 2022 November | 52 | 32 | 84 |
| 2022 October | 49 | 19 | 68 |
| 2022 September | 42 | 43 | 85 |
| 2022 August | 36 | 35 | 71 |
| 2022 July | 35 | 43 | 78 |
| 2022 June | 40 | 38 | 78 |
| 2022 May | 67 | 37 | 104 |
| 2022 April | 75 | 29 | 104 |
| 2022 March | 87 | 58 | 145 |
| 2022 February | 131 | 32 | 163 |
| 2022 January | 78 | 36 | 114 |
| 2021 December | 80 | 35 | 115 |
| 2021 November | 101 | 53 | 154 |
| 2021 October | 105 | 52 | 157 |
| 2021 September | 111 | 46 | 157 |
| 2021 August | 95 | 26 | 121 |
| 2021 July | 73 | 18 | 91 |
| 2021 June | 79 | 17 | 96 |
| 2021 May | 111 | 36 | 147 |
| 2021 April | 137 | 62 | 199 |
| 2021 March | 116 | 20 | 136 |
| 2021 February | 96 | 22 | 118 |
| 2021 January | 76 | 18 | 94 |
| 2020 December | 58 | 15 | 73 |
| 2020 November | 49 | 17 | 66 |
| 2020 October | 50 | 13 | 63 |
| 2020 September | 41 | 14 | 55 |
| 2020 August | 32 | 20 | 52 |
| 2020 July | 42 | 17 | 59 |
| 2020 June | 29 | 17 | 46 |
| 2020 May | 27 | 7 | 34 |
| 2020 April | 20 | 8 | 28 |
| 2020 March | 18 | 5 | 23 |
| 2020 February | 4 | 0 | 4 |
| 2019 May | 3 | 0 | 3 |
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