Case and Research Letters
Prenatal Screening for Bathing-suit Ichthyosis After Diagnosis in an Older Sibling
Ictiosis en bañador y diagnóstico prenatal en subsiguiente embarazo
J.F. Mir-Bonafé
, E. Baselga-Torres, E. Roé-Crespo, L. Puig-Sanz
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Servicio de Dermatología, Hospital de la Sant Creu i Sant Pau, Barcelona, España
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Mir-Bonafé, E. Baselga-Torres, E. Roé-Crespo, L. Puig-Sanz" "autores" => array:4 [ 0 => array:4 [ "nombre" => "J.F." "apellidos" => "Mir-Bonafé" "email" => array:1 [ 0 => "jmirb@santpau.cat" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "E." "apellidos" => "Baselga-Torres" ] 2 => array:2 [ "nombre" => "E." "apellidos" => "Roé-Crespo" ] 3 => array:2 [ "nombre" => "L." "apellidos" => "Puig-Sanz" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Servicio de Dermatología, Hospital de la Sant Creu i Sant Pau, Barcelona, España" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Ictiosis en bañador y diagnóstico prenatal en subsiguiente embarazo" ] ] "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" => 1249 "Ancho" => 832 "Tamanyo" => 162811 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Thick dark scales down the midline of the back.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Bathing suit ichthyosis (BSI) is a rare form of ichthyosis in the group of autosomal recessive congenital ichthyoses (ARCI), together with lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE), harlequin ichthyosis, and self-healing collodion baby (SHCB). These in turn form part of the nonsyndromic ichthyoses,<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1,2</span></a> and their estimated prevalence in Spain is of 7.2 cases per million population, with a total of 144 cases reported. Among these, only 2 cases of BSI have been documented, 1.4% of all cases of ARCI.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a> BSI was first described as a distinct disease in 2005<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">4</span></a> and it is characterized by presentation at birth as collodion baby; the characteristic distribution typically develops within a few months, with the appearance of thick brownish scales on the trunk, with sparing of the limbs and face, giving the appearance of a woman's bathing suit.<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">2,5</span></a> This condition is due to mutations in the <span class="elsevierStyleItalic">TGM-1</span> gene,<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1,2,5–8</span></a> which provoke a phenotype similar to LI but milder; the distribution depends on body temperature, as the function of the enzyme transglutaminase-1 is only altered in the warmest areas of the body, typically the central regions.<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">8</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">We presented the case of a 6-year-old girl of Spanish origin, with no family history of interest and no known consanguinity, product of a well-controlled second gestation. At birth the condition presented as collodion baby. This resolved without complications, but when the infant was 6 months old, thick brownish scales started to develop in a specific distribution, only affecting the inguinal and axillary regions (<a class="elsevierStyleCrossRefs" href="#fig0005">Figs. 1 and 2</a>) and the central area of the trunk, with sparing of the face, limbs, hands, and feet. Diffuse desquamation and erythema of the scalp were also observed. Notably, there was no involvement of the nails or hair, no alteration of sweating, and no other signs of systemic involvement, nor was any deficit detected in the child's psychomotor development. On suspicion of BSI, we decided to perform genetic analysis, which confirmed the suspected diagnosis after finding 2 known pathogenic mutations in heterozygosis, in both alleles of the <span class="elsevierStyleItalic">TGM-1</span> gene: c.424C<span class="elsevierStyleHsp" style=""></span>><span class="elsevierStyleHsp" style=""></span>T; p.Arg142Cys described in BSI<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">8</span></a> and c.919C<span class="elsevierStyleHsp" style=""></span>><span class="elsevierStyleHsp" style=""></span>G; p.Arg307Gly described in LI.<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">9</span></a></p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">The patient's clinical course has at all times been characteristic of the disease (chronic and recurrent), and the manifestations have been managed using moisturizers and the application of preparations of 10% N-acetyl-cysteine plus 5% urea<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">10</span></a> (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>). However, the bad smell of the N-acetyl-cysteine preparation has occasionally interfered with adherence to treatment.</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">After 3 years of good control, the mother consulted for a new pregnancy and the possibility of giving birth to another child affected by BSI. There are now 7 genes known to be implicated in different types of ARCI. Of these, the gene most frequently implicated is, without doubt, <span class="elsevierStyleItalic">TGM-1</span>.<a class="elsevierStyleCrossRefs" href="#bib0080"><span class="elsevierStyleSup">6,7</span></a> However, this is the only gene known to be implicated in BSI.<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">6</span></a> Twenty different mutations of this gene have been detected, 9 of which are exclusive to BSI, whereas the other 11 are mutations shared with other types of ARCI.<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">5</span></a> Thus 2 individuals with the same mutations can present different phenotypes.<a class="elsevierStyleCrossRefs" href="#bib0075"><span class="elsevierStyleSup">5,6</span></a> In fact, families have been described in which siblings with the same genetic changes have presented different types of ARCI.<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">5</span></a> There are also isolated reports of cases in which the phenotype has changed with the age of the child, passing from BSI to generalized forms of LI/CIE or even to self-healing collodion baby.<a class="elsevierStyleCrossRefs" href="#bib0075"><span class="elsevierStyleSup">5,6</span></a> It would appear likely that environmental factors may influence the phenotypic expression of these genetically identical conditions. In our case, one of the mutations found had already been reported in LI.<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">9</span></a> Given the possibility described in the literature of LI in siblings of patients with BSI with the same mutations,<a class="elsevierStyleCrossRefs" href="#bib0075"><span class="elsevierStyleSup">5,6</span></a> we agreed with the mother to perform prenatal screening: mutations of the <span class="elsevierStyleItalic">TGM-1</span> gene in the fetus were excluded. The gestation was uneventful and the infant was healthy.</p><p id="par0025" class="elsevierStylePara elsevierViewall">In conclusion, BSI is a rare genodermatosis belonging to the group of ARCI. It has a series of clinical and diagnostic peculiarities that we should be aware of. Although the diagnosis is usually clinical, confirmation can only be made by genetic analysis of the <span class="elsevierStyleItalic">TGM-1</span> gene. This is the only gene implicated in this condition, but its mutations are also the most prevalent in other forms of ARCI, and many of the mutations are common to the different forms; thus, individuals with the same genetic load can develop different phenotypes, and these can even be dynamic, with changes occurring during life. All these features are important with respect to the prognosis in our patients and to correct genetic counselling.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Mir-Bonafé JF, Baselga-Torres E, Roé-Crespo E, Puig-Sanz L. Ictiosis en bañador y diagnóstico prenatal en subsiguiente embarazo. Actas Dermosifiliogr. 2015;106:770–772.</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" => 1249 "Ancho" => 832 "Tamanyo" => 159548 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Body distribution of the lamellar scales outlining the form of a woman's bathing suit, with sparing of the limbs and of the central area of the abdomen.</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" => 1249 "Ancho" => 832 "Tamanyo" => 162811 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Thick dark scales down the midline of the back.</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" => 1249 "Ancho" => 832 "Tamanyo" => 104015 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Good control of the disease with the preparation of 10% N-acetyl-cysteine plus 5% urea in a moisturizing body milk.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:10 [ 0 => array:3 [ "identificador" => "bib0055" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "V. 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| año/Mes | Html | Total | |
|---|---|---|---|
| 2024 Noviembre | 8 | 9 | 17 |
| 2024 Octubre | 71 | 35 | 106 |
| 2024 Septiembre | 62 | 26 | 88 |
| 2024 Agosto | 93 | 63 | 156 |
| 2024 Julio | 69 | 34 | 103 |
| 2024 Junio | 85 | 56 | 141 |
| 2024 Mayo | 75 | 46 | 121 |
| 2024 Abril | 88 | 21 | 109 |
| 2024 Marzo | 76 | 36 | 112 |
| 2024 Febrero | 58 | 33 | 91 |
| 2024 Enero | 70 | 48 | 118 |
| 2023 Diciembre | 70 | 15 | 85 |
| 2023 Noviembre | 88 | 35 | 123 |
| 2023 Octubre | 70 | 20 | 90 |
| 2023 Septiembre | 67 | 25 | 92 |
| 2023 Agosto | 43 | 19 | 62 |
| 2023 Julio | 60 | 39 | 99 |
| 2023 Junio | 64 | 24 | 88 |
| 2023 Mayo | 64 | 28 | 92 |
| 2023 Abril | 52 | 25 | 77 |
| 2023 Marzo | 74 | 30 | 104 |
| 2023 Febrero | 59 | 33 | 92 |
| 2023 Enero | 60 | 38 | 98 |
| 2022 Diciembre | 81 | 50 | 131 |
| 2022 Noviembre | 43 | 47 | 90 |
| 2022 Octubre | 38 | 31 | 69 |
| 2022 Septiembre | 27 | 54 | 81 |
| 2022 Agosto | 38 | 48 | 86 |
| 2022 Julio | 33 | 58 | 91 |
| 2022 Junio | 32 | 27 | 59 |
| 2022 Mayo | 41 | 64 | 105 |
| 2022 Abril | 70 | 54 | 124 |
| 2022 Marzo | 46 | 64 | 110 |
| 2022 Febrero | 56 | 28 | 84 |
| 2022 Enero | 77 | 45 | 122 |
| 2021 Diciembre | 44 | 42 | 86 |
| 2021 Noviembre | 61 | 53 | 114 |
| 2021 Octubre | 39 | 48 | 87 |
| 2021 Septiembre | 36 | 46 | 82 |
| 2021 Agosto | 46 | 29 | 75 |
| 2021 Julio | 34 | 22 | 56 |
| 2021 Junio | 29 | 28 | 57 |
| 2021 Mayo | 40 | 32 | 72 |
| 2021 Abril | 95 | 51 | 146 |
| 2021 Marzo | 51 | 39 | 90 |
| 2021 Febrero | 61 | 31 | 92 |
| 2021 Enero | 50 | 26 | 76 |
| 2020 Diciembre | 43 | 24 | 67 |
| 2020 Noviembre | 22 | 25 | 47 |
| 2020 Octubre | 34 | 28 | 62 |
| 2020 Septiembre | 51 | 28 | 79 |
| 2020 Agosto | 35 | 14 | 49 |
| 2020 Julio | 39 | 21 | 60 |
| 2020 Junio | 58 | 36 | 94 |
| 2020 Mayo | 34 | 34 | 68 |
| 2020 Abril | 38 | 22 | 60 |
| 2020 Marzo | 35 | 25 | 60 |
| 2020 Febrero | 5 | 14 | 19 |
| 2020 Enero | 0 | 11 | 11 |
| 2019 Diciembre | 4 | 3 | 7 |
| 2019 Noviembre | 0 | 1 | 1 |
| 2019 Octubre | 0 | 1 | 1 |
| 2019 Septiembre | 4 | 3 | 7 |
| 2019 Agosto | 0 | 7 | 7 |
| 2019 Julio | 0 | 9 | 9 |
| 2019 Junio | 2 | 8 | 10 |
| 2019 Mayo | 1 | 19 | 20 |
| 2019 Abril | 0 | 16 | 16 |
| 2019 Marzo | 3 | 6 | 9 |
| 2019 Febrero | 2 | 5 | 7 |
| 2019 Enero | 4 | 0 | 4 |
| 2018 Diciembre | 1 | 0 | 1 |
| 2018 Octubre | 4 | 0 | 4 |
| 2018 Septiembre | 3 | 0 | 3 |
| 2018 Agosto | 0 | 6 | 6 |
| 2018 Julio | 0 | 2 | 2 |
| 2018 Mayo | 0 | 7 | 7 |
| 2018 Abril | 0 | 1 | 1 |
| 2018 Marzo | 0 | 1 | 1 |
| 2018 Febrero | 22 | 2 | 24 |
| 2018 Enero | 35 | 5 | 40 |
| 2017 Diciembre | 36 | 11 | 47 |
| 2017 Noviembre | 21 | 5 | 26 |
| 2017 Octubre | 18 | 5 | 23 |
| 2017 Septiembre | 15 | 5 | 20 |
| 2017 Agosto | 23 | 15 | 38 |
| 2017 Julio | 22 | 14 | 36 |
| 2017 Junio | 28 | 15 | 43 |
| 2017 Mayo | 26 | 18 | 44 |
| 2017 Abril | 21 | 9 | 30 |
| 2017 Marzo | 9 | 3 | 12 |
| 2017 Febrero | 15 | 11 | 26 |
| 2017 Enero | 17 | 4 | 21 |
| 2016 Diciembre | 14 | 12 | 26 |
| 2016 Noviembre | 26 | 15 | 41 |
| 2016 Octubre | 23 | 17 | 40 |
| 2016 Septiembre | 0 | 2 | 2 |
| 2016 Julio | 3 | 2 | 5 |
| 2016 Junio | 2 | 0 | 2 |
| 2016 Mayo | 0 | 4 | 4 |
| 2016 Enero | 0 | 2 | 2 |
| 2015 Diciembre | 0 | 2 | 2 |
| 2015 Noviembre | 0 | 1 | 1 |
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