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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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 8 | 6 | 14 |
| 2024 October | 99 | 40 | 139 |
| 2024 September | 72 | 34 | 106 |
| 2024 August | 104 | 87 | 191 |
| 2024 July | 93 | 26 | 119 |
| 2024 June | 107 | 21 | 128 |
| 2024 May | 75 | 26 | 101 |
| 2024 April | 80 | 19 | 99 |
| 2024 March | 78 | 27 | 105 |
| 2024 February | 73 | 32 | 105 |
| 2024 January | 78 | 26 | 104 |
| 2023 December | 69 | 17 | 86 |
| 2023 November | 67 | 22 | 89 |
| 2023 October | 78 | 23 | 101 |
| 2023 September | 67 | 26 | 93 |
| 2023 August | 50 | 15 | 65 |
| 2023 July | 52 | 27 | 79 |
| 2023 June | 58 | 21 | 79 |
| 2023 May | 71 | 24 | 95 |
| 2023 April | 56 | 25 | 81 |
| 2023 March | 82 | 28 | 110 |
| 2023 February | 62 | 21 | 83 |
| 2023 January | 43 | 21 | 64 |
| 2022 December | 72 | 44 | 116 |
| 2022 November | 34 | 25 | 59 |
| 2022 October | 44 | 46 | 90 |
| 2022 September | 43 | 73 | 116 |
| 2022 August | 47 | 40 | 87 |
| 2022 July | 42 | 45 | 87 |
| 2022 June | 25 | 15 | 40 |
| 2022 May | 54 | 40 | 94 |
| 2022 April | 49 | 36 | 85 |
| 2022 March | 61 | 53 | 114 |
| 2022 February | 39 | 29 | 68 |
| 2022 January | 74 | 42 | 116 |
| 2021 December | 50 | 37 | 87 |
| 2021 November | 52 | 49 | 101 |
| 2021 October | 52 | 41 | 93 |
| 2021 September | 45 | 37 | 82 |
| 2021 August | 35 | 31 | 66 |
| 2021 July | 34 | 33 | 67 |
| 2021 June | 27 | 34 | 61 |
| 2021 May | 44 | 51 | 95 |
| 2021 April | 113 | 48 | 161 |
| 2021 March | 68 | 27 | 95 |
| 2021 February | 61 | 34 | 95 |
| 2021 January | 34 | 23 | 57 |
| 2020 December | 40 | 21 | 61 |
| 2020 November | 37 | 19 | 56 |
| 2020 October | 50 | 11 | 61 |
| 2020 September | 35 | 18 | 53 |
| 2020 August | 39 | 16 | 55 |
| 2020 July | 37 | 18 | 55 |
| 2020 June | 41 | 31 | 72 |
| 2020 May | 28 | 15 | 43 |
| 2020 April | 36 | 19 | 55 |
| 2020 March | 28 | 17 | 45 |
| 2020 February | 10 | 1 | 11 |
| 2020 January | 2 | 0 | 2 |
| 2019 December | 8 | 0 | 8 |
| 2019 November | 2 | 0 | 2 |
| 2019 September | 8 | 0 | 8 |
| 2019 August | 4 | 0 | 4 |
| 2019 July | 4 | 0 | 4 |
| 2019 June | 7 | 2 | 9 |
| 2019 May | 6 | 0 | 6 |
| 2019 April | 2 | 0 | 2 |
| 2019 March | 4 | 0 | 4 |
| 2019 February | 1 | 0 | 1 |
| 2019 January | 1 | 0 | 1 |
| 2018 December | 5 | 0 | 5 |
| 2018 November | 3 | 0 | 3 |
| 2018 October | 15 | 0 | 15 |
| 2018 September | 5 | 0 | 5 |
| 2018 February | 14 | 3 | 17 |
| 2018 January | 28 | 6 | 34 |
| 2017 December | 35 | 13 | 48 |
| 2017 November | 58 | 42 | 100 |
| 2017 October | 4 | 6 | 10 |
| 2017 September | 4 | 10 | 14 |
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