Letter to the Editor
Hermansky-Pudlak syndrome: A case report
Síndrome de Hermansky-Pudlak: descripción de un caso
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Cruz Rogado González, Ana Dolores Romero Ortiz" "autores" => array:4 [ 0 => array:4 [ "nombre" => "Alberto" "apellidos" => "Caballero Vázquez" "email" => array:2 [ 0 => "trainingpolar@yahoo.es" 1 => "albertocaballerovazquez@yahoo.es" ] "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" => "Joaquín" "apellidos" => "Vizcaíno Ricoma" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "M. Cruz" "apellidos" => "Rogado González" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 3 => array:3 [ "nombre" => "Ana Dolores" "apellidos" => "Romero Ortiz" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Área Integrada de Medicina, Unidad de Neumología, Hospital de Poniente, El Ejido, Almería, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Neumología, Hospital Universitario Virgen de las Nieves, Granada, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Síndrome de Hermansky-Pudlak: descripción de un caso" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Hermansky-Pudlak syndrome is a recessive autosomal genetic disease characterised by oculocutaneous albinism, associated with a tendency to haemorrhage due to the absence of platelet granules and lysosomal dysfunction resulting from ceroid material accumulation. Additionally, patients commonly develop interstitial pneumopathy, which is a pulmonary affection. Given that this syndrome is highly uncommon—only some 200 cases have been described—we believe that the presentation of this case is of clinical interest.</p><p id="par0010" class="elsevierStylePara elsevierViewall">A 50-year old female patient with oculocutaneous albinism, with no other history of interest, had undergone a uterine fibroid procedure with hysterectomy and adnexectomy. The patient had several drug allergies (metamizole, acetylsalicylic acid, butylscopolamine, dexchlorpheniramine and cefixime). The patient had never smoked and did not consume toxic substances. She had no occupational or environmental exposure to toxic substances. She did not have regular contact with animals; she lives in a rural convent. Her family history revealed that her father died from an unspecified pulmonary disease and she had an albino brother who also died from a respiratory disease that was not studied. As regular medication, she had amitriptyline and benzodiazepines for the treatment of migraines episodes. She had dry cough and moderate effort dyspnoea of one year of progression, occasional night sweats and slight weight loss of about 5-6 kg during this period. The patient had no other related symptoms. Her physical examination was within normal limits. Laboratory test results were within the normal range for biochemical analysis, haemogram, proteinogram, immunoglobulin G, A and M, anti-nuclear antibodies, angiotensin-converting enzyme and coagulation. An arterial blood gas study showed severe hypoxemia, with partial oxygen pressure of 63 mmHg but with no abnormalities in other parameters. The chest X-ray showed a diffuse reticulonodular pattern and the chest CT scan revealed a diffuse interstitial pattern with subpleural predominance in upper lobes and bilateral basal predominance with cylindrical bronchiectasis in lower lobes and fibrosis areas. Respiratory function tests showed a moderate restrictive pattern with a total pulmonary capacity of 58.6% compared to the reference value and a diffusing capacity for carbon monoxide (DLCO) due to a reduced unique breathing technique (48.7%). There were no findings from sputum bacilloscopy and culture (standard, mycobacteria and fungi). A fibrobronchoscopy showed generalised inflammation of the entire bronchial system with negative bronchoalveolar lavage for neoplastic cells and infectious agents. Based on findings from the imaging tests described above, the patient underwent a videothoracoscopy-assisted pulmonary biopsy, which confirmed interstitial fibrosis with abundant type 2 pneumocytes, granulomas and macrophages containing ceroid material, a histopathologic diagnosis, together with the patient's oculocutaneous albinism, compatible with Hermansky-Pudlak syndrome.</p><p id="par0015" class="elsevierStylePara elsevierViewall">Hermansky-Pudlak syndrome is a recessive autosomal disease<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">1</span></a> characterised by oculocutaneous albinism positive for tyrosinase, a platelet storage defect due to the absence of dense bodies and ceroid pigment accumulation in all body macrophages<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">2</span></a>. The syndrome is highly uncommon and only some 200 cases had been described prior to 1985. Ceroid material accumulation may lead to dysfunction in organs such as the lungs, intestine, kidneys or heart. The worst complication of this disease is pulmonary fibrosis, which begins during the thirties or forties, with symptoms of effort dyspnoea and dry cough, and a greater predisposition to developing infectious processes, as well as a greater tendency towards bleeding secondary to platelet dysfunction<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">3</span></a>. In respiratory function tests, the disease shows a restrictive pattern with reduced DLCO, characterised by hypoxemia at rest. Radiologically, it is characterised by a ground-glass reticulonodular pattern in its initial stages and, in its final stages, this develops into parenchymatous and peribronchial fibrosis with a honeycomb pattern. Findings from the pulmonary biopsy include diffuse interstitial fibrosis<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">4</span></a>, alveolar macrophages containing ceroid material and vacuolated type 2 pneumocytes<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">2</span></a>, which is positively dyed in the presence of Schiff periodic acid and exhibits an intense orange-red fluorescence under UV light due to the ceroid material<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a> and type 2 pneumocytes. Currently, Hermansky-Pudlak syndrome has no aetiological treatment and therapeutic measures are restricted to the symptomatic treatment of clinical manifestations and related complications.</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: Caballero Vázquez A, Vizcaíno Ricoma J, Rogado González MC, Romero Ortiz AD. Síndrome de Hermansky-Pudlak: descripción de un caso. Med Clin (Barc). 2015;144:141–142.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0030" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Pulmonary fibrosis in Hermansky-Pudlak syndrome. 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