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
Corresponding author
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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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 7 | 9 | 16 |
| 2024 October | 71 | 35 | 106 |
| 2024 September | 62 | 26 | 88 |
| 2024 August | 93 | 63 | 156 |
| 2024 July | 69 | 34 | 103 |
| 2024 June | 85 | 56 | 141 |
| 2024 May | 75 | 46 | 121 |
| 2024 April | 88 | 21 | 109 |
| 2024 March | 76 | 36 | 112 |
| 2024 February | 58 | 33 | 91 |
| 2024 January | 70 | 48 | 118 |
| 2023 December | 70 | 15 | 85 |
| 2023 November | 88 | 35 | 123 |
| 2023 October | 70 | 20 | 90 |
| 2023 September | 67 | 25 | 92 |
| 2023 August | 43 | 19 | 62 |
| 2023 July | 60 | 39 | 99 |
| 2023 June | 64 | 24 | 88 |
| 2023 May | 64 | 28 | 92 |
| 2023 April | 52 | 25 | 77 |
| 2023 March | 74 | 30 | 104 |
| 2023 February | 59 | 33 | 92 |
| 2023 January | 60 | 38 | 98 |
| 2022 December | 81 | 50 | 131 |
| 2022 November | 43 | 47 | 90 |
| 2022 October | 38 | 31 | 69 |
| 2022 September | 27 | 54 | 81 |
| 2022 August | 38 | 48 | 86 |
| 2022 July | 33 | 58 | 91 |
| 2022 June | 32 | 27 | 59 |
| 2022 May | 41 | 64 | 105 |
| 2022 April | 70 | 54 | 124 |
| 2022 March | 46 | 64 | 110 |
| 2022 February | 56 | 28 | 84 |
| 2022 January | 77 | 45 | 122 |
| 2021 December | 44 | 42 | 86 |
| 2021 November | 61 | 53 | 114 |
| 2021 October | 39 | 48 | 87 |
| 2021 September | 36 | 46 | 82 |
| 2021 August | 46 | 29 | 75 |
| 2021 July | 34 | 22 | 56 |
| 2021 June | 29 | 28 | 57 |
| 2021 May | 40 | 32 | 72 |
| 2021 April | 95 | 51 | 146 |
| 2021 March | 51 | 39 | 90 |
| 2021 February | 61 | 31 | 92 |
| 2021 January | 50 | 26 | 76 |
| 2020 December | 43 | 24 | 67 |
| 2020 November | 22 | 25 | 47 |
| 2020 October | 34 | 28 | 62 |
| 2020 September | 51 | 28 | 79 |
| 2020 August | 35 | 14 | 49 |
| 2020 July | 39 | 21 | 60 |
| 2020 June | 58 | 36 | 94 |
| 2020 May | 34 | 34 | 68 |
| 2020 April | 38 | 22 | 60 |
| 2020 March | 35 | 25 | 60 |
| 2020 February | 5 | 14 | 19 |
| 2020 January | 0 | 11 | 11 |
| 2019 December | 4 | 3 | 7 |
| 2019 November | 0 | 1 | 1 |
| 2019 October | 0 | 1 | 1 |
| 2019 September | 4 | 3 | 7 |
| 2019 August | 0 | 7 | 7 |
| 2019 July | 0 | 9 | 9 |
| 2019 June | 2 | 8 | 10 |
| 2019 May | 1 | 19 | 20 |
| 2019 April | 0 | 16 | 16 |
| 2019 March | 3 | 6 | 9 |
| 2019 February | 2 | 5 | 7 |
| 2019 January | 4 | 0 | 4 |
| 2018 December | 1 | 0 | 1 |
| 2018 October | 4 | 0 | 4 |
| 2018 September | 3 | 0 | 3 |
| 2018 August | 0 | 6 | 6 |
| 2018 July | 0 | 2 | 2 |
| 2018 May | 0 | 7 | 7 |
| 2018 April | 0 | 1 | 1 |
| 2018 March | 0 | 1 | 1 |
| 2018 February | 22 | 2 | 24 |
| 2018 January | 35 | 5 | 40 |
| 2017 December | 36 | 11 | 47 |
| 2017 November | 21 | 5 | 26 |
| 2017 October | 18 | 5 | 23 |
| 2017 September | 15 | 5 | 20 |
| 2017 August | 23 | 15 | 38 |
| 2017 July | 22 | 14 | 36 |
| 2017 June | 28 | 15 | 43 |
| 2017 May | 26 | 18 | 44 |
| 2017 April | 21 | 9 | 30 |
| 2017 March | 9 | 3 | 12 |
| 2017 February | 15 | 11 | 26 |
| 2017 January | 17 | 4 | 21 |
| 2016 December | 14 | 12 | 26 |
| 2016 November | 26 | 15 | 41 |
| 2016 October | 23 | 17 | 40 |
| 2016 September | 0 | 2 | 2 |
| 2016 July | 3 | 2 | 5 |
| 2016 June | 2 | 0 | 2 |
| 2016 May | 0 | 4 | 4 |
| 2016 January | 0 | 2 | 2 |
| 2015 December | 0 | 2 | 2 |
| 2015 November | 0 | 1 | 1 |
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