Case Letter
Bullous congenital diffuse cutaneous mastocytosis
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Cabral, Rute Facchini Lellis, Flavia Naranjo Ravelli" "autores" => array:4 [ 0 => array:4 [ "nombre" => "Julia Marcon" "apellidos" => "Cardoso" "email" => array:1 [ 0 => "jumarconcardoso@gmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Camila Angelico S." "apellidos" => "Cabral" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "Rute Facchini" "apellidos" => "Lellis" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "Flavia Naranjo" "apellidos" => "Ravelli" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Department of Dermatology, Universidade de Santo Amaro, São Paulo, SP, Brazil" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Sector of Dermatology, Department of Pathology, Hospital Santa Casa de Misericórdia de São Paulo, São Paulo, SP, Brazil" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Department of Dermatology, Hospital e Maternidade Santa Joana, São Paulo, SP, Brazil" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 624 "Ancho" => 905 "Tamanyo" => 54185 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Erythematous brownish plaques on lower limb, topped by blisters at different stages of development (stray blisters, flaccid blisters and exulcerations).</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Mastocytosis is a heterogeneous group of disorders whose signs and symptoms are characterized by mast cells infiltrate in tissues.<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">1,2</span></a> There are two main variants, cutaneous mastocytosis (CM) that is limited to the skin, and systemic mastocytosis (SM) in which extracutaneous organs are affected, such as the bone marrow, liver, spleen and lymphoid tissue.<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">1–3</span></a> The skin is the most commonly affected organ, and in children it is often the only one. Studies suggest that in 15–31% of all patients the disease is congenital.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">3</span></a> Mastocytosis is also classified into two groups according to the age of onset: childhood and adult mastocytosis. The adult mastocytosis tends to progress to SM with worse prognosis, whereas childhood mastocytosis rarely progresses to a SM and tends to improve during adolescence.<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">1,4</span></a> Diffuse cutaneous mastocytosis (DCM) is a rare and severe variant that typically presents in the neonatal period with a sontroversial prognosis.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">3</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">A full-term male newborn, with no significant family or gestational history, presented at birth diffuse erythematous leathery plaques distributed throughout the body (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). Physical examination did not present alterations in other organs or systems. On the third day of life, there were tense bullae (filled with yellowish fluid)) in the cephalic segment, upper and lower limbs and anterior trunk. In addition, the erythematous plaques became brownish, with <span class="elsevierStyleItalic">peau d’orange</span> appearance (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>). The spread of new bullous lesions was related to the heat of the incubator, handling with latex gloves and contact with clorexidine during hygiene. Laboratory and imaging investigations did not show any evidence of abnormalities.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">At that moment, prednisone 1<span class="elsevierStyleHsp" style=""></span>mg/kg/day was introduced and a skin biopsy performed. The skin biopsy revealed numerous of diffuse mast cells cutaneous infiltrates stained in metachromically toluidine blue staining, confirming the diagnosis of mastocytosis (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>). Immunohistochemistry CD117 (c-kit) evidenced massive positivity of mast cells (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>). Serum tryptase levels were increased, and to rule out SM, a myelogram was performed, with a normal result.</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">In view of the clinical picture and additional tests, the child was diagnosed with bullous DCM and the progressive weaning of prednisone was made. Hydroxizine sedative dose was started, as well as guidance from the entire team to avoid possible triggers of mastocytosis.</p><p id="par0025" class="elsevierStylePara elsevierViewall">At present, the child is in outpatient follow-up, with normal development, still remains with brownish lesions and some bullous in the whole tegument, but without signs of systemic disease.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Signs and symptoms found in mastocytosis are caused by excess mast cell degranulation, which can lead to cutaneous manifestations (such as itchiness, redness, edema), abdominal symptoms, respiratory symptoms, hypotension and even anaphylaxis.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">1</span></a> Cutaneous mastocytosis includes maculo-papular form, DCM and solitary mastocytoma.<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">1,2</span></a> Blisters can occur in all forms and are often associated with systemic involvement.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a> Investigation of systemic disease is indicated when there are signs or symptoms consistent with systemic disease, or when the serum level of tryptase is above 20<span class="elsevierStyleHsp" style=""></span>ng/mL.<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">1,5</span></a> At that stage, directed imaging as well as bone marrow biopsy is crucial. The severity of the symptoms and skin infiltration tend to correlate with the serum level of tryptase, key enzyme in the metabolism of histamine and in the monitoring of mast cell activity.<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">1–3</span></a> Our case did not show alterations of other organs beyond the skin, despite presenting high tryptase.</p><p id="par0035" class="elsevierStylePara elsevierViewall">DCM is a rare condition that usually manifests with erythema, dermal thickening, skin folds accentuation, and edema with a typical leather or peau d’orange appearance.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">2,3</span></a> The actual prognosis for DCM is debatable.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">2,3,5</span></a> According to some authors, most cases improve in months to years, while others believe that patients are at increased risk of developing SM or life-threatening events, such as hypotension or bronchospasm.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">2,4</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">A review of DCM cases concluded that the majority were congenital and that even in cases of high tryptase the prognosis was good.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">3</span></a> Perhaps because elevated serum tryptase levels are correlated with systemic involvement in adults, but this association is not yet fully understood in children.<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">3,4</span></a> It seems to be more correlated to the extension of skin involved and the presence of symptoms.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">4</span></a> There is a higher risk of unfavorable evolution (anaphylactic shock and death) in children with neonatal onset, extensive and early blisters as well as vasodilation symptoms.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Reliable prognostic criteria are still lacking to predict the risk of systemic involvement in DCM and maculo-papular mastocytosis. Most cases of DCM resolve spontaneously in childhood or adolescence, however these patients are at a greater risk of complications such as hypotension, anaphylaxis and diarrhea and they should be monitored regularly.</p><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Financial support</span><p id="par0065" class="elsevierStylePara elsevierViewall">None declared.</p></span><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Authors’ contributions</span><p id="par0050" class="elsevierStylePara elsevierViewall">Julia Marcon Cardoso: Approval of the final version of the manuscript; conception and planning of the study; elaboration and writing of the manuscript; critical review of the literature; critical review of the manuscript.</p><p id="par0055" class="elsevierStylePara elsevierViewall">Camila Angelico S. Cabral: Conception and planning of the study; critical review of the literature;</p><p id="par0060" class="elsevierStylePara elsevierViewall">Rute Facchini Lellis: Approval of the final version of the manuscript; obtaining, analysis, and interpretation of the data.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflicts of interest</span><p id="par0070" class="elsevierStylePara elsevierViewall">None declared.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:4 [ 0 => array:2 [ "identificador" => "sec0010" "titulo" => "Financial support" ] 1 => array:2 [ "identificador" => "sec0005" "titulo" => "Authors’ contributions" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Conflicts of interest" ] 3 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2018-03-26" "fechaAceptado" => "2019-01-28" "NotaPie" => array:2 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">How to cite this article: Cardoso JM, Cabral CAS, Lellis RF, Ravelli FN. Bullous congenital diffuse cutaneous mastocytosis. An Bras Dermatol. 2020;95:255–6.</p>" ] 1 => array:2 [ "etiqueta" => "☆☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0010">Study conducted at the Hospital e Maternidade Santa Joana, São Paulo, SP, Brazil.</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" => 1215 "Ancho" => 905 "Tamanyo" => 106365 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Erythematous plaques present at birth.</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" => 624 "Ancho" => 905 "Tamanyo" => 54185 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Erythematous brownish plaques on lower limb, topped by blisters at different stages of development (stray blisters, flaccid blisters and exulcerations).</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" => 463 "Ancho" => 905 "Tamanyo" => 136742 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Left: numerous mast cells arranged diffusely in the dermis stained by Hematoxylin & eosin. Right: the CD117 immunohistochemical reaction (c-kit) is diffusely positive in mast cells.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0030" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Bullous cutaneous mastocytosis, a rarely reported disease in Asian children" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "H.J. Lee" 1 => "M.J. Jang" 2 => "E.Y. Bae" 3 => "S.B. Han" 4 => "D.C. Jeong" 5 => "J.H. 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| Ano/Mês | Html | Total | |
|---|---|---|---|
| 2024 Novembro | 27 | 13 | 40 |
| 2024 Outubro | 117 | 87 | 204 |
| 2024 Setembro | 135 | 83 | 218 |
| 2024 Agosto | 135 | 105 | 240 |
| 2024 Julho | 127 | 130 | 257 |
| 2024 Junho | 111 | 95 | 206 |
| 2024 Maio | 78 | 67 | 145 |
| 2024 Abril | 92 | 90 | 182 |
| 2024 Março | 99 | 85 | 184 |
| 2024 Fevereiro | 104 | 75 | 179 |
| 2024 Janeiro | 67 | 50 | 117 |
| 2023 Dezembro | 63 | 67 | 130 |
| 2023 Novembro | 79 | 86 | 165 |
| 2023 Outubro | 85 | 91 | 176 |
| 2023 Setembro | 88 | 72 | 160 |
| 2023 Agosto | 60 | 49 | 109 |
| 2023 Julho | 57 | 47 | 104 |
| 2023 Junho | 62 | 42 | 104 |
| 2023 Maio | 42 | 16 | 58 |
| 2023 Abril | 44 | 16 | 60 |
| 2023 Março | 70 | 56 | 126 |
| 2023 Fevereiro | 55 | 27 | 82 |
| 2023 Janeiro | 39 | 40 | 79 |
| 2022 Dezembro | 49 | 37 | 86 |
| 2022 Novembro | 82 | 49 | 131 |
| 2022 Outubro | 68 | 45 | 113 |
| 2022 Setembro | 44 | 60 | 104 |
| 2022 Agosto | 40 | 39 | 79 |
| 2022 Julho | 40 | 51 | 91 |
| 2022 Junho | 45 | 55 | 100 |
| 2022 Maio | 53 | 51 | 104 |
| 2022 Abril | 43 | 45 | 88 |
| 2022 Março | 43 | 66 | 109 |
| 2022 Fevereiro | 24 | 34 | 58 |
| 2022 Janeiro | 42 | 82 | 124 |
| 2021 Dezembro | 37 | 51 | 88 |
| 2021 Novembro | 39 | 56 | 95 |
| 2021 Outubro | 47 | 65 | 112 |
| 2021 Setembro | 38 | 49 | 87 |
| 2021 Agosto | 33 | 48 | 81 |
| 2021 Julho | 40 | 51 | 91 |
| 2021 Junho | 36 | 60 | 96 |
| 2021 Maio | 61 | 85 | 146 |
| 2021 Abril | 113 | 214 | 327 |
| 2021 Março | 41 | 39 | 80 |
| 2021 Fevereiro | 23 | 19 | 42 |
| 2021 Janeiro | 25 | 18 | 43 |
| 2020 Dezembro | 14 | 19 | 33 |
| 2020 Novembro | 21 | 8 | 29 |
| 2020 Outubro | 16 | 7 | 23 |
| 2020 Setembro | 9 | 7 | 16 |
| 2020 Agosto | 15 | 7 | 22 |
| 2020 Julho | 6 | 7 | 13 |
| 2020 Junho | 17 | 13 | 30 |
| 2020 Maio | 12 | 13 | 25 |
| 2020 Abril | 2 | 3 | 5 |
| 2020 Março | 0 | 1 | 1 |
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