Case and Research Letter
Expanding the Genotype of Sjögren–Larsson Syndrome: A New Case Due to Two Novel Mutations
Ampliando el genotipo del síndrome de Sjögren-Larsson: un nuevo caso causado por dos nuevas mutaciones
E. García-Peris
, I. Latour-Álvarez, M. Pestana-Eliche, R. Sánchez
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Department of Dermatology, Hospital Universitario de Canarias, Tenerife, Spain
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"apellidos" => "Sánchez" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Department of Dermatology, Hospital Universitario de Canarias, Tenerife, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Ampliando el genotipo del síndrome de Sjögren-Larsson: un nuevo caso causado por dos nuevas mutaciones" ] ] "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" => 1716 "Ancho" => 1980 "Tamanyo" => 1331749 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">A skin biopsy from an armpit revealed hyperkeratosis, psoriasiform epidermal hyperplasia and slightly thickened granular layer in epidermis, and mild perivascular inflammatory infiltrate of mononuclear cells in papillary dermis (H&E 4×).</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Sjögren–Larsson syndrome (SLS) is a rare genetic disorder with autosomal recessive inheritance,<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">1,2</span></a> characterized by clinical triad of congenital ichthyosis, spastic diplegia or tetraplegia and mental retardation.<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">1,3,4</span></a> We report a new patient affected by SLS due to two unreported mutations.</p><p id="par0010" class="elsevierStylePara elsevierViewall">A 6 months male child was referred to our hospital because of congenital erythroderma and subsequent development of generalized fine scaling and persistent pruritus. He was the first child of non-consanguineous parents, born at 33 weeks of gestation. There was no history suggestive of a collodion membrane at birth, and no family history of ichthyosis. On physical examination we observed generalized fine desquamation on the limbs and trunk without underlying erythema (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>A) and hyperkeratotic skin on the armpits (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>B), palms and soles (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>C). Hair and nails appeared normal. Given that an ichthyosis was the diagnosis suspected, a skin biopsy from an armpit was made. Histological study showed hyperkeratosis, psoriasiform epidermal hyperplasia, a prominent granulous layer in some areas of the epidermis and mild perivascular inflammatory infiltrate of mononuclear cells in papillary dermis (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>), resulting compatible with a congenital ichthyosis. The rest of the physical exam showed the patient had macrocephaly, mild psychomotor retardation, mild axial hypotonia, incipient signs of spasticity in the lower limbs, and occasional spasms. A transfontanelar ultrasound showed benign external hydrocephaly, which was confirmed in a brain magnetic resonance imaging where others anomalies were not observed. Given the coexistence of congenital ichthyosis and neurological signs, our clinical suspicion was a neurocutaneous disorder. Ophthalmologic examination, peripheral blood smear, peripheral blood analysis and abdominal ultrasound were normal. Genetic analysis of the patient confirmed the diagnosis of Sjögren–Larsson syndrome (SLS) by identifying two unreported heterozygous ALDH3A2 mutations, a deletion mutation c.154_155delAG (p.Ser52Stop) in exon 2 and a missense mutation c.536A<span class="elsevierStyleHsp" style=""></span>><span class="elsevierStyleHsp" style=""></span>T (p.Asp179Val) in exon 4. The c.154_155delAG mutation is considered of pathogenic nature, and the variant c.536A<span class="elsevierStyleHsp" style=""></span>><span class="elsevierStyleHsp" style=""></span>T is likely to cause disease by several in silico analysis. Despite the genetic counseling, the patient's parents did not want to perform the genetic study in that moment. Progressively, the neurological symptoms were worsening by detecting hyperreflexia, spasticity and delay speech in our patient.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">In 1957, Karl Gustaf Torsten Sjögren, on collaboration with Tage K. Larsson, established the clinical and genetic profile of the Sjögren–Larsson syndrome (SLS).<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">5</span></a> SLS is a recessively inherited neurocutaneous disorder characterized by a triad of congenital ichthyosis, mild to moderate mental retardation and spastic diplegia or tetraplegia, caused by a fatty aldehyde dehydrogenase (FALDH) deficiency.<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">4,6,7</span></a> It occurs in all races and its prevalence worldwide has been estimated as 0.4:100,000 live births.<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">1,4</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">SLS is caused by mutation in the ALDH3A2 gene on the short arm of chromosome 17 (17p11.2), that is the gene for FALDH which catalyzes oxidation of long chain aliphatic alcohols to corresponding fatty acids.<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">3,8</span></a> The consequent accumulation of fatty aldehyde precursors, including fatty alcohols, caused by the FALDH deficiency, is postulated to affect the normal formation of multilamellar membranes in the stratum corneum and myelin, and to result in the symptoms.<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">7</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">The disorder presents at birth or in the neonatal period with varying degrees of erythema and ichthyosis, but a collodion membrane is rarely seen. Ichthyosis has a generalized distribution across the trunk, flexures and nape of neck, although the central face is spared in most cases.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">1</span></a> Palmoplantar keratoderma is seen in 50% of cases.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">3</span></a> The nails and hair are interestingly normal.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">6</span></a> Persistent pruritus is common, which is mostly absent in other forms of ichthyosis.<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">1,4,8</span></a> The histological findings of hyperkeratosis, papillomatosis, acanthosis, and a mildly thickened granular layer are nonspecific.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">5</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">The diagnosis of SLS is delayed until the onset of neurological symptoms, because only cutaneous manifestations are present at birth.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">3</span></a> The neurological symptoms appear in the first or second year of life,<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">3,4</span></a> and include cognitive impairment, brain magnetic resonance imaging (MRI) findings, speech–language development and spasticity.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">1</span></a> One-third of patients present with perifoveal glistening white dots in the ocular fundus which appear after several years of age,<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">3</span></a> and their occurrence strongly suggests SLS.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">4</span></a> Macrocephaly is not a characteristic or common finding in SLS.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Mutation analysis of the ALDH3A2 gene is a highly sensitive method of confirming the diagnosis of SLS.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">4</span></a> More than 90 pathogenic variants of ALDH3A2 have been identified to date.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">1</span></a> The diagnosis of SLS can be confirmed by measurement of enzyme activity in cultured skin fibroblasts or leukocytes.</p><p id="par0040" class="elsevierStylePara elsevierViewall">There is no permanent cure for SLS and no specific therapy, so that a multidisciplinary approach is necessary.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">3</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">In conclusion, we report a new case of SLS caused by two novel mutations, supporting the rich mutational heterogeneity associated with this syndrome. High index of suspicion is necessary for the diagnosis of SLS, so that in a neonate or infant with congenital ichthyosis and neurological symptoms we must rule out this neurocutaneous disorder.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflict of interests</span><p id="par0050" class="elsevierStylePara elsevierViewall">The authors declare no conflict of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Conflict of interests" ] 1 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:2 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1766 "Ancho" => 3600 "Tamanyo" => 313567 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A) Generalized xerosis with fine desquamation on the trunk. (B) Hyperkeratotic and brownish skin on the armpits. (C) Hyperkeratotic skin on the soles.</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" => 1716 "Ancho" => 1980 "Tamanyo" => 1331749 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">A skin biopsy from an armpit revealed hyperkeratosis, psoriasiform epidermal hyperplasia and slightly thickened granular layer in epidermis, and mild perivascular inflammatory infiltrate of mononuclear cells in papillary dermis (H&E 4×).</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:8 [ 0 => array:3 [ "identificador" => "bib0045" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Case of Sjögren–Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "N.E. 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| año/Mes | Html | Total | |
|---|---|---|---|
| 2024 Noviembre | 12 | 9 | 21 |
| 2024 Octubre | 59 | 56 | 115 |
| 2024 Septiembre | 54 | 26 | 80 |
| 2024 Agosto | 74 | 55 | 129 |
| 2024 Julio | 59 | 28 | 87 |
| 2024 Junio | 66 | 56 | 122 |
| 2024 Mayo | 46 | 48 | 94 |
| 2024 Abril | 60 | 23 | 83 |
| 2024 Marzo | 44 | 36 | 80 |
| 2024 Febrero | 35 | 36 | 71 |
| 2024 Enero | 42 | 26 | 68 |
| 2023 Diciembre | 50 | 20 | 70 |
| 2023 Noviembre | 60 | 33 | 93 |
| 2023 Octubre | 42 | 29 | 71 |
| 2023 Septiembre | 56 | 26 | 82 |
| 2023 Agosto | 33 | 16 | 49 |
| 2023 Julio | 52 | 36 | 88 |
| 2023 Junio | 61 | 25 | 86 |
| 2023 Mayo | 53 | 24 | 77 |
| 2023 Abril | 59 | 29 | 88 |
| 2023 Marzo | 68 | 29 | 97 |
| 2023 Febrero | 65 | 41 | 106 |
| 2023 Enero | 46 | 31 | 77 |
| 2022 Diciembre | 81 | 40 | 121 |
| 2022 Noviembre | 57 | 33 | 90 |
| 2022 Octubre | 71 | 41 | 112 |
| 2022 Septiembre | 59 | 41 | 100 |
| 2022 Agosto | 51 | 39 | 90 |
| 2022 Julio | 58 | 39 | 97 |
| 2022 Junio | 51 | 32 | 83 |
| 2022 Mayo | 72 | 45 | 117 |
| 2022 Abril | 84 | 31 | 115 |
| 2022 Marzo | 97 | 51 | 148 |
| 2022 Febrero | 80 | 37 | 117 |
| 2022 Enero | 87 | 36 | 123 |
| 2021 Diciembre | 52 | 42 | 94 |
| 2021 Noviembre | 61 | 47 | 108 |
| 2021 Octubre | 65 | 66 | 131 |
| 2021 Septiembre | 39 | 30 | 69 |
| 2021 Agosto | 46 | 39 | 85 |
| 2021 Julio | 51 | 39 | 90 |
| 2021 Junio | 56 | 28 | 84 |
| 2021 Mayo | 42 | 53 | 95 |
| 2021 Abril | 104 | 73 | 177 |
| 2021 Marzo | 69 | 33 | 102 |
| 2021 Febrero | 77 | 32 | 109 |
| 2021 Enero | 45 | 21 | 66 |
| 2020 Diciembre | 32 | 14 | 46 |
| 2020 Noviembre | 35 | 23 | 58 |
| 2020 Octubre | 23 | 25 | 48 |
| 2020 Septiembre | 39 | 18 | 57 |
| 2020 Agosto | 20 | 30 | 50 |
| 2020 Julio | 49 | 21 | 70 |
| 2020 Junio | 40 | 36 | 76 |
| 2020 Mayo | 50 | 17 | 67 |
| 2020 Abril | 36 | 14 | 50 |
| 2020 Marzo | 48 | 18 | 66 |
| 2020 Febrero | 7 | 0 | 7 |
| 2020 Enero | 4 | 0 | 4 |
| 2019 Diciembre | 4 | 0 | 4 |
| 2019 Noviembre | 4 | 0 | 4 |
| 2019 Septiembre | 4 | 0 | 4 |
| 2019 Agosto | 4 | 0 | 4 |
| 2019 Julio | 4 | 0 | 4 |
| 2019 Junio | 4 | 0 | 4 |
| 2019 Mayo | 5 | 0 | 5 |
| 2019 Abril | 2 | 0 | 2 |
| 2019 Febrero | 2 | 0 | 2 |
| 2019 Enero | 1 | 0 | 1 |
| 2018 Diciembre | 2 | 0 | 2 |
| 2018 Noviembre | 2 | 0 | 2 |
| 2018 Octubre | 1 | 0 | 1 |
| 2018 Septiembre | 4 | 0 | 4 |
| 2018 Junio | 1 | 0 | 1 |
| 2018 Mayo | 0 | 1 | 1 |
| 2018 Febrero | 2 | 2 | 4 |
| 2018 Enero | 6 | 12 | 18 |
| 2017 Diciembre | 9 | 16 | 25 |
| 2017 Noviembre | 14 | 10 | 24 |
| 2017 Octubre | 6 | 14 | 20 |
| 2017 Septiembre | 12 | 21 | 33 |
| 2017 Agosto | 13 | 51 | 64 |
| 2017 Julio | 27 | 162 | 189 |
| 2017 Junio | 4 | 17 | 21 |
| 2017 Mayo | 0 | 12 | 12 |
| 2017 Abril | 0 | 27 | 27 |
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