CASE FOR DIAGNOSIS
Alopecia, Follicular Papules, and Short Stature
Alopecia, pápulas foliculares y talla baja
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González-Lara, P. Gonzalvo-Rodríguez, E. Rodríguez-Díaz" "autores" => array:3 [ 0 => array:4 [ "nombre" => "L." "apellidos" => "González-Lara" "email" => array:1 [ 0 => "leiregonzalezlara@gmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "P." "apellidos" => "Gonzalvo-Rodríguez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "E." "apellidos" => "Rodríguez-Díaz" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Servicio de Dermatología, Hospital de Cabueñes, Gijón, Asturias, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Anatomía Patológica, Hospital de Cabueñes, Gijón, Asturias, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Alopecia, pápulas foliculares y talla baja" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:6 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 500 "Ancho" => 572 "Tamanyo" => 39174 ] ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Medical History</span><p id="par0005" class="elsevierStylePara elsevierViewall">A 35-year-old, 135-cm-tall man with healthy consanguineous parents presented with generalized alopecia that had first developed when the patient was 3 months old. The patient had a past history of vitamin D-dependent rickets type <span class="elsevierStyleSmallCaps">II</span>, for which he received treatment with high doses of calcitriol, magnesium, and oral calcium until age 20 years. At age 8 years, the patient developed multiple whitish patches on the scalp. Thereafter, papules gradually appeared on the face, scalp, and forearms and did not respond to topical corticosteroids or oral retinoids.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Physical Examination</span><p id="par0010" class="elsevierStylePara elsevierViewall">Physical examination revealed generalized alopecia that spared the eyelashes and a few isolated hairs of the eyebrows. Numerous whitish-yellowish follicular papules were observed on the face, scalp, and forearms (<a class="elsevierStyleCrossRefs" href="#fig0005">Figs. 1 and 2</a>). No alterations in the nails, teeth, or perspiration were observed.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Histopathology</span><p id="par0015" class="elsevierStylePara elsevierViewall">Skin biopsy revealed the presence of keratin-filled cysts in the middle and upper dermis (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>).</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">What Is Your Diagnosis?</span></p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Diagnosis</span><p id="par0025" class="elsevierStylePara elsevierViewall">Alopecia with papular lesions associated with resistant hereditary vitamin D-dependent rickets type <span class="elsevierStyleSmallCaps">II</span>.</p><p id="par0030" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Clinical course and treatment:</span> New cysts continued to appear over time. A conservative approach was adopted and symptomatic lesions were surgically removed. A study of the vitamin-D receptor (VDR) gene has not been ordered to date.</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Comment</span><p id="par0035" class="elsevierStylePara elsevierViewall">Resistant vitamin D-dependent rickets type <span class="elsevierStyleSmallCaps">II</span> (VDDR-<span class="elsevierStyleSmallCaps">II</span>) is a rare autosomal recessive genetic disease caused by mutations in the VDR gene.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a> Partial or total alopecia is present in 75% of cases.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">Patients with VDDR-II have the same clinical and histologic phenotype as patients with congenital atrichia with papular lesions, which is caused by mutations in the hairless gene.<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">3,4</span></a> The hairless and VDR genes participate in the same pathways that regulate the hair cycle. Both diseases entail the separation of the dermal papillae in the first catagen phase of the hair cycle, which leads to the disintegration of the lower two-thirds of the hair follicles and the formation of dermal cysts.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Hair is present at birth and irreversible alopecia begins in the first months of life. Follicular papules develop on the scalp, face, and extremities in the first few years. In some cases, whitish patches also develop on the scalp. Biopsy reveals an absence of hair follicles and the presence of keratin-filled cysts in the dermis.<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">4,6</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">It is also important to take into account the family history and history of consanguinity. The main differential diagnosis is alopecia universalis, although genodermatoses associated with hypotrichosis and milia, such as Oley syndrome, Bazex-Dupré-Christol syndrome, and Rombo syndrome, should also be considered.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">Recognition of this entity makes it possible to avoid unnecessary treatments. Moreover, alopecia can precede the onset of symptoms of rickets, so the role of the dermatologist in early diagnosis is of the utmost importance.</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Conflicts of Interest</span><p id="par0060" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflicts of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:7 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Medical History" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Physical Examination" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Histopathology" ] 3 => array:2 [ "identificador" => "sec0020" "titulo" => "Diagnosis" ] 4 => array:2 [ "identificador" => "sec0025" "titulo" => "Comment" ] 5 => array:2 [ "identificador" => "sec0030" "titulo" => "Conflicts of Interest" ] 6 => 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: González-Lara L, Gonzalvo-Rodríguez P, Rodríguez-Díaz E. Alopecia, pápulas foliculares y talla baja. Actas Dermosifiliogr. 2017;108:859–860.</p>" ] ] "multimedia" => array:3 [ 0 => array:6 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 966 "Ancho" => 580 "Tamanyo" => 73273 ] ] ] 1 => array:6 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 500 "Ancho" => 572 "Tamanyo" => 39174 ] ] ] 2 => array:7 [ "identificador" => "fig0015" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 650 "Ancho" => 650 "Tamanyo" => 141935 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Hematoxylin-eosin, original magnification ×200.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0035" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "J. 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| año/Mes | Html | Total | |
|---|---|---|---|
| 2024 Noviembre | 8 | 6 | 14 |
| 2024 Octubre | 99 | 40 | 139 |
| 2024 Septiembre | 72 | 34 | 106 |
| 2024 Agosto | 104 | 87 | 191 |
| 2024 Julio | 93 | 26 | 119 |
| 2024 Junio | 107 | 21 | 128 |
| 2024 Mayo | 75 | 26 | 101 |
| 2024 Abril | 80 | 19 | 99 |
| 2024 Marzo | 78 | 27 | 105 |
| 2024 Febrero | 73 | 32 | 105 |
| 2024 Enero | 78 | 26 | 104 |
| 2023 Diciembre | 69 | 17 | 86 |
| 2023 Noviembre | 67 | 22 | 89 |
| 2023 Octubre | 78 | 23 | 101 |
| 2023 Septiembre | 67 | 26 | 93 |
| 2023 Agosto | 50 | 15 | 65 |
| 2023 Julio | 52 | 27 | 79 |
| 2023 Junio | 58 | 21 | 79 |
| 2023 Mayo | 71 | 24 | 95 |
| 2023 Abril | 56 | 25 | 81 |
| 2023 Marzo | 82 | 28 | 110 |
| 2023 Febrero | 62 | 21 | 83 |
| 2023 Enero | 43 | 21 | 64 |
| 2022 Diciembre | 72 | 44 | 116 |
| 2022 Noviembre | 34 | 25 | 59 |
| 2022 Octubre | 44 | 46 | 90 |
| 2022 Septiembre | 43 | 73 | 116 |
| 2022 Agosto | 47 | 40 | 87 |
| 2022 Julio | 42 | 45 | 87 |
| 2022 Junio | 25 | 15 | 40 |
| 2022 Mayo | 54 | 40 | 94 |
| 2022 Abril | 49 | 36 | 85 |
| 2022 Marzo | 61 | 53 | 114 |
| 2022 Febrero | 39 | 29 | 68 |
| 2022 Enero | 74 | 42 | 116 |
| 2021 Diciembre | 50 | 37 | 87 |
| 2021 Noviembre | 52 | 49 | 101 |
| 2021 Octubre | 52 | 41 | 93 |
| 2021 Septiembre | 45 | 37 | 82 |
| 2021 Agosto | 35 | 31 | 66 |
| 2021 Julio | 34 | 33 | 67 |
| 2021 Junio | 27 | 34 | 61 |
| 2021 Mayo | 44 | 51 | 95 |
| 2021 Abril | 113 | 48 | 161 |
| 2021 Marzo | 68 | 27 | 95 |
| 2021 Febrero | 61 | 34 | 95 |
| 2021 Enero | 34 | 23 | 57 |
| 2020 Diciembre | 40 | 21 | 61 |
| 2020 Noviembre | 37 | 19 | 56 |
| 2020 Octubre | 50 | 11 | 61 |
| 2020 Septiembre | 35 | 18 | 53 |
| 2020 Agosto | 39 | 16 | 55 |
| 2020 Julio | 37 | 18 | 55 |
| 2020 Junio | 41 | 31 | 72 |
| 2020 Mayo | 28 | 15 | 43 |
| 2020 Abril | 36 | 19 | 55 |
| 2020 Marzo | 28 | 17 | 45 |
| 2020 Febrero | 10 | 1 | 11 |
| 2020 Enero | 2 | 0 | 2 |
| 2019 Diciembre | 8 | 0 | 8 |
| 2019 Noviembre | 2 | 0 | 2 |
| 2019 Septiembre | 8 | 0 | 8 |
| 2019 Agosto | 4 | 0 | 4 |
| 2019 Julio | 4 | 0 | 4 |
| 2019 Junio | 7 | 2 | 9 |
| 2019 Mayo | 6 | 0 | 6 |
| 2019 Abril | 2 | 0 | 2 |
| 2019 Marzo | 4 | 0 | 4 |
| 2019 Febrero | 1 | 0 | 1 |
| 2019 Enero | 1 | 0 | 1 |
| 2018 Diciembre | 5 | 0 | 5 |
| 2018 Noviembre | 3 | 0 | 3 |
| 2018 Octubre | 15 | 0 | 15 |
| 2018 Septiembre | 5 | 0 | 5 |
| 2018 Febrero | 14 | 3 | 17 |
| 2018 Enero | 28 | 6 | 34 |
| 2017 Diciembre | 35 | 13 | 48 |
| 2017 Noviembre | 58 | 42 | 100 |
| 2017 Octubre | 4 | 6 | 10 |
| 2017 Septiembre | 4 | 10 | 14 |
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