Case for Diagnosis
Thick Nails and White Tongue in a Fifteen-Year Old Male
Onicodistrofia y leucoqueratosis oral en un paciente varón de 15 años
A. Combalia
, X. Fustà-Novell, T. Estrach
Corresponding author
Servicio de Dermatología, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain
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Combalia, X. Fustà-Novell, T. Estrach" "autores" => array:3 [ 0 => array:4 [ "nombre" => "A." "apellidos" => "Combalia" "email" => array:1 [ 0 => "andreacombalia@gmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "X." "apellidos" => "Fustà-Novell" ] 2 => array:2 [ "nombre" => "T." "apellidos" => "Estrach" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Servicio de Dermatología, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Onicodistrofia y leucoqueratosis oral en un paciente varón de 15 años" ] ] "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" => 791 "Ancho" => 800 "Tamanyo" => 93897 ] ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Case presentation</span><p id="par0005" class="elsevierStylePara elsevierViewall">We present the case of a fifteen-year old boy who presented with a history of hypertrophic nail dystrophy and subungual debris of all 20 nails dating back to childhood. He also suffered plantar pain with occasional painful bullae and fissures at friction sites, as well as multiple palmoplantar infections which had been treated with oral antibiotics and topical antifungals. His mother presented the same clinical condition but to a lesser degree, and no other family members were affected. They did not report erupted teeth at birth, hearing loss or hair disorders.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Physical examination</span><p id="par0010" class="elsevierStylePara elsevierViewall">On examination, all his fingernails and toenails were dystrophic, discolored, and thickened, with massive subungual hyperkeratosis (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>a). Keratotic plaques and bullae following pressure distribution were found on the palms and soles (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>b), and hyperkeratotic papules appeared over his thighs and trunk. His tongue was thickened with fissures on the dorsal surface, and leukokeratotic plaques were identified both on the tongue and in oral mucosa (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Complementary studies</span><p id="par0015" class="elsevierStylePara elsevierViewall">KOH microscopy and culture of nail clippings and oral mucosa ruled out oral thrush and candidal or dermatophytic onychomycosis. Genetic testing confirmed a mutation in the keratin 6a (K6A L469P) in both individuals.</p><p id="par0020" class="elsevierStylePara elsevierViewall">What is your diagnosis?</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Diagnosis</span><p id="par0025" class="elsevierStylePara elsevierViewall">The patient and his mother were diagnosed with Pachyonychia Congenita (PC).</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Discussion</span><p id="par0030" class="elsevierStylePara elsevierViewall">PC is a rare disorder of keratinization<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">1</span></a> described by Muller in 1904 and by Jadassohn and Lewandowsky in 1906. The four main sites of disease involvement include (a) hypertrophic nail dystrophy characterized by yellow-brown thickening of the distal two thirds of the nails with subungual debris resulting in elevation and exaggerated curvature or premature termination of nail plate; (b) painful palmoplantar keratoderma following pressure distribution or involving the entirety of the plantar surface, hyperhidrosis of palms and soles, and fissures at friction sites with occasional blistering and secondary infection; (c) follicular keratoses on the trunk, buttocks and extensor aspects of the extremities that resemble keratosis pilaris, but may coalesce into thick, verrucous plaques; (d) oral leukokeratosis with no inherent malignant potential. PC is also characterized in some cases by natal teeth and presence of pilosebaceous cysts (including steatocystoma and vellus hair cysts).<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">1</span></a> Hoarseness due to laryngeal obstruction is very unusual with only a few cases reported.</p><p id="par0035" class="elsevierStylePara elsevierViewall">It is associated with a mutation in one of the five-keratin genes (KRT6A, KRT6B, KRT6C, KRT16, KRT17)<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">2,3</span></a> preventing normal filament aggregation, and causing epidermolysis and compensatory hyperkeratosis at these sites. The nail, hair follicle, tongue, palm, and sole are the main sites of constitutive expression of keratins 6, 16, and 17, which corresponds to the distribution of lesions seen in PC. The most commonly mutated gene is KRT6A (≈41–44%), followed by KRT16 (≈25–30%), KRT17 (≈17–24%), KRT6B (≈5–9%) and KRT6C (≈2–3%).<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">3</span></a> It was historically divided into two types (PC-1/Jadassohn-Lewandowski and PC-2/Jackson-Lawler); however, its classification is now based on genetic subtypes. This disorder is predominantly inherited in an autosomal dominant pattern with variable expression and a high degree of penetrance, although genetic heterogeneity has been reported.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">4</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">Its diagnosis is based on clinical findings; however, genetic confirmation is necessary. Toenail dystrophy is the earliest and most common clinical characteristic of PC in children, which can be present at birth in nearly 40% of PC-affected newborns.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">5</span></a> Genotyping is currently available at no cost on a research basis by registering in the International Pachyonychia Congenita Research Registry (IPCRR, <a href="http://www.pachyonychia.org/">www.pachyonychia.org</a>).</p><p id="par0045" class="elsevierStylePara elsevierViewall">Treatment of PC is notoriously difficult. Treatment of manifestations must focus on grooming of nails and management of pain due to palmoplantar keratoderma, which includes the use of emollients to reduce hyperkeratosis and strategies to limit frictions and trauma of the feet. However, there is no curative treatment for PC yet. When thickened nails are not responsive to topical therapy, extensive surgical removal of nail plate, bed and matrix must be undertaken with subsequent skin grafting. Oral retinoids have been effective for palmoplantar keratodermia in some cases of PC<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">6</span></a> and some cases successfully treated with botulinum toxin have been reported.<a class="elsevierStyleCrossRefs" href="#bib0080"><span class="elsevierStyleSup">7,8</span></a> Moreover, some studies point towards the possibility of neuropathic changes occurring in PC, and therefore neuropathic pain medications could be beneficial in these patients.<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">9</span></a> In our case, emollients and keratolytic agents were prescribed, with good disease control.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:6 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Case presentation" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Physical examination" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Complementary studies" ] 3 => array:2 [ "identificador" => "sec0020" "titulo" => "Diagnosis" ] 4 => array:2 [ "identificador" => "sec0025" "titulo" => "Discussion" ] 5 => 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: Combalia A, Fustà-Novell X, Estrach T. Onicodistrofia y leucoqueratosis oral en un paciente varón de 15 años. Actas Dermosifiliogr. 2020;111:323–324.</p>" ] ] "multimedia" => array:2 [ 0 => array:6 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 609 "Ancho" => 975 "Tamanyo" => 93490 ] ] ] 1 => array:6 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 791 "Ancho" => 800 "Tamanyo" => 93897 ] ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:9 [ 0 => array:3 [ "identificador" => "bib0050" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "M.J. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 5 | 9 | 14 |
| 2024 October | 76 | 67 | 143 |
| 2024 September | 78 | 46 | 124 |
| 2024 August | 106 | 66 | 172 |
| 2024 July | 84 | 56 | 140 |
| 2024 June | 87 | 45 | 132 |
| 2024 May | 79 | 55 | 134 |
| 2024 April | 63 | 35 | 98 |
| 2024 March | 55 | 35 | 90 |
| 2024 February | 76 | 37 | 113 |
| 2024 January | 63 | 31 | 94 |
| 2023 December | 62 | 19 | 81 |
| 2023 November | 75 | 27 | 102 |
| 2023 October | 80 | 21 | 101 |
| 2023 September | 67 | 36 | 103 |
| 2023 August | 60 | 16 | 76 |
| 2023 July | 79 | 34 | 113 |
| 2023 June | 85 | 17 | 102 |
| 2023 May | 110 | 39 | 149 |
| 2023 April | 62 | 19 | 81 |
| 2023 March | 99 | 30 | 129 |
| 2023 February | 60 | 16 | 76 |
| 2023 January | 55 | 40 | 95 |
| 2022 December | 81 | 47 | 128 |
| 2022 November | 63 | 32 | 95 |
| 2022 October | 62 | 24 | 86 |
| 2022 September | 57 | 27 | 84 |
| 2022 August | 76 | 30 | 106 |
| 2022 July | 41 | 40 | 81 |
| 2022 June | 33 | 34 | 67 |
| 2022 May | 75 | 42 | 117 |
| 2022 April | 71 | 29 | 100 |
| 2022 March | 73 | 59 | 132 |
| 2022 February | 63 | 19 | 82 |
| 2022 January | 95 | 34 | 129 |
| 2021 December | 71 | 35 | 106 |
| 2021 November | 67 | 41 | 108 |
| 2021 October | 72 | 50 | 122 |
| 2021 September | 44 | 43 | 87 |
| 2021 August | 93 | 24 | 117 |
| 2021 July | 70 | 19 | 89 |
| 2021 June | 35 | 21 | 56 |
| 2021 May | 38 | 44 | 82 |
| 2021 April | 82 | 55 | 137 |
| 2021 March | 70 | 25 | 95 |
| 2021 February | 50 | 23 | 73 |
| 2021 January | 50 | 15 | 65 |
| 2020 December | 39 | 15 | 54 |
| 2020 November | 34 | 16 | 50 |
| 2020 October | 72 | 12 | 84 |
| 2020 September | 48 | 21 | 69 |
| 2020 August | 42 | 14 | 56 |
| 2020 July | 51 | 14 | 65 |
| 2020 June | 122 | 50 | 172 |
| 2020 May | 18 | 10 | 28 |
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