ABSTRACT
RESUMEN Objetivos Describir las características clínicas y epidemiológicas de los pacientes diagnosticados con epidermólisis bullosa (EB), en el Instituto Nacional de Salud del Niño (INSN) en Lima, Perú; centro de referencia nacional para esta enfermedad. Material y métodos Estudio observacional, descriptivo y transversal. Se revisaron las historias clínicas y exámenes de laboratorio de los pacientes diagnosticados de EB atendidos en el INSN desde 1993 al 2015. Resultados Fueron registrados 93 pacientes. La edad promedio fue de 7,9 ± 5,6 años; el 53,8% (n=50) fueron hombres. Las formas clínicas correspondieron a EB distrófica con 41 (44,1%) casos, EB simple con 39 (41,9%) casos, EB de la unión con 8 (8,6%) y al síndrome de Kindler con 4 (4,3%) casos. No se pudo identificar la forma clínica en un caso. Procedían de Lima y Callao 48 casos (51,6%) y 45 casos (48,4%) de otras provincias del país. Entre las manifestaciones extracutáneas se registraron compromiso gastrointestinal (44,1%), ocular (37,6%), odontogénico (87,1%), nutricional (79,6%), además de pseudosindactilia (16,1%). Se halló desnutrición crónica (71,6%), desnutrición aguda (17,6%) y anemia en (62,4%). La mortalidad correspondió a 6 casos (6,5%). Conclusiones Se reportan 93 casos de EB en el INSN, la presentación clínica predominante fue la forma distrófica.
ABSTRACT Objectives To describe the clinical and epidemiological characteristics of patients diagnosed with epidermolysis bullosa (EB) at the Instituto Nacional de Salud (INSN) in Lima, Peru; a National Reference Center for this disease. Materials and methods Observational, descriptive and transversal study. We reviewed the clinical histories and laboratory tests of patients diagnosed with EB treated in INSN from 1993 to 2015. Results 93 patients were registered. The average age was 7.9 ± 5.6 years; 53.8% (n = 50) were boys. Clinical forms corresponded to dystrophic EB with 41 (44.1%) cases, simple EB with 39 (41.9%), union EB cases with 8 (8.6%) and Kindler syndrome with 4 (4.3%) cases. The clinical form could not be identified in a case. A total of 48 cases (51.6%) came from Lima and Callao, and 45 cases (48.4%) from other provinces of the country. Extracutaneous manifestations involved gastrointestinal (44.1%), ocular (37.6%), odontogenic (87.1%), and nutritional (79.6%) involvement, as well as pseudosindactilia (16.1%). Chronic malnutrition (71.6%), acute malnutrition (17.6%) and anemia (62.4%) were found. Mortality corresponded to 6 cases (6.5%). Conclusions 93 cases of EB were reported in INSN, the predominant clinical presentation was the dystrophic form.
Subject(s)
Child , Female , Humans , Male , Epidermolysis Bullosa/diagnosis , Epidermolysis Bullosa/epidemiology , Peru/epidemiology , Time Factors , Epidemiologic Studies , Cross-Sectional Studies , Retrospective Studies , Epidermolysis Bullosa/complications , Hospitals, PediatricABSTRACT
La epidermólisis bullosa comprende un grupo heterogéneo de enfermedades ampollosas de la piel y las mucosas, son de origen congénito y hereditario. Hacer el diagnóstico no es difícil si se tiene experiencia dermatológica, pero su clasificación es compleja y para ello se necesita considerar la clínica, la genética, la microscopia y la evaluación de laboratorio. El tratamiento de esta enfermedad es también dificultoso y son necesarias ciertas medidas, para proteger al paciente, evitar la aparición de lesiones y las complicaciones derivadas de ellas. Se describe el tratamiento de estas lesiones en un recién nacido, al que se administraron antibióticos profilácticos y se colocaron vendajes en las lesiones. Se describieron todos los cuidados y recomendaciones para evitar, especialmente los roces y las presiones en estas lesiones, así como las temperaturas altas. Para la confección del presente trabajo se consultaron 18 materiales entre revistas y libros de Pediatría. El caso reportado fue un recién nacido con epidermólisis bullosa atendido en el Hospital Universitario "Dr. Mario Muñoz Monroy" de Colón, Matanzas. Se demostró lo poco frecuente y raro de esta patología para los especialistas del tema (AU).
The epidermolysis bullosa includes a heterogeneous group of bullous skin and mucous diseases of congenital and hereditary origin. Diagnosing them is not difficult if the specialist has dermatologic experience, but their classification is complex and it is necessary to take into account the clinical, genetic and microscopic factors, and the laboratory assessment. The treatment of this disease is also difficult and it is necessary to take certain measures to protect the patient, avoid the onset of lesions and the complications derived from them. The treatment of these lesions in a newborn is described. Prophylactic antibiotics were administered and bandages were put on the lesions. All the cares and recommendations to avoid rubbings and pressures on these lesions, and also the high temperatures, are described. To develop the current term, 18 materials (journals and pediatric books) were consulted. The reported case was the case of a newborn with epidermolysis bullosa attended in the University Hospital "Dr. Mario Muñoz Monroy" of Colon, Matanzas. It was demonstrated the low frequency and rarity of this pathology for the specialists of the theme (AU).
Subject(s)
Humans , Male , Female , Infant, Newborn , Skin Diseases, Vesiculobullous/epidemiology , Epidermolysis Bullosa/epidemiology , Skin Diseases, Vesiculobullous/congenital , Skin Diseases, Vesiculobullous/diagnosis , Epidermolysis Bullosa/complications , Epidermolysis Bullosa/diagnosis , Epidermolysis Bullosa/rehabilitation , Epidermolysis Bullosa/therapy , Dermatology/methods , Congenital, Hereditary, and Neonatal Diseases and Abnormalities/diagnosis , Congenital, Hereditary, and Neonatal Diseases and Abnormalities/genetics , Congenital, Hereditary, and Neonatal Diseases and Abnormalities/epidemiologyABSTRACT
Epidermolysis bullosa pruriginosa is a rare variant of dystrophic epidermolysis bullosa characterized by severely pruritic and cicatricial lesions localized to the extensor extremities. We report a Singaporean Chinese male with epidermolysis bullosa pruriginosa with an underlying novel mutation in the COL7A1 gene. A heterozygous acceptor splice site mutation IVS67‑1G>T probably led to in‑frame skipping of exon 68 (36‑basepairs), resulting in a loss of 12 amino acids. Among his three children, only the youngest son, who had bilateral big toenail thickening, possessed the same mutation. His skin biopsy one decade ago revealed association of focal amyloidosis; a recent skin biopsy showed more established features of lichen amyloidosis. It is debatable whether the cutaneous amyloidosis was a secondary or primary phenomenon. Our report highlights that the diagnosis of epidermolysis bullosa pruriginosa may be obscured when cutaneous amyloidosis is coexistent.
Subject(s)
Adult , Asian People/genetics , Amyloidosis, Familial/epidemiology , Epidermolysis Bullosa/complications , Epidermolysis Bullosa/diagnosis , Epidermolysis Bullosa/epidemiology , Epidermolysis Bullosa/genetics , Humans , Leg/pathology , Lichenoid Eruptions/epidemiology , Male , Middle Aged , MutationABSTRACT
Es un grupo de enfermedades hereditarias en las que se desarrollan ampollas en la piel, como respuesta a un trauma menor. Se presenta un paciente de 5 años de edad con diagnóstico de epidermólisis ampollar, sin antecedentes familiares de la enfermedad. Se describen signos y síntomas para el diagnóstico de la enfermedad, complicaciones, tratamiento médico y se desarrollan las normas a tener en cuenta durante el tratamiento odontológico del paciente con esta patología.
Subject(s)
Humans , Child , Dental Care for Chronically Ill/methods , Epidermolysis Bullosa/complications , Epidermolysis Bullosa/diagnosis , Epidermolysis Bullosa/prevention & control , Preventive Dentistry/methods , Dental Caries/prevention & control , Toothbrushing/methods , Fluorides, Topical/therapeutic use , Health Education, Dental , Neoplasms, Squamous Cell/etiology , Oral ManifestationsSubject(s)
Aged, 80 and over , Carcinoma, Squamous Cell/complications , Carcinoma, Squamous Cell/drug therapy , Carcinoma, Squamous Cell/pathology , Diagnosis, Differential , Epidermolysis Bullosa/complications , Epidermolysis Bullosa/drug therapy , Epidermolysis Bullosa/pathology , Esophageal Neoplasms/complications , Esophageal Neoplasms/drug therapy , Esophageal Neoplasms/pathology , Humans , MaleABSTRACT
Epidermólise bolhosa (EB) é um conjunto de afecções bolhosas, de caráter hereditário, com diferentes quadros clínicos e diferentes modos de transmissão genética. Os indivíduos evoluem com bolhas na pele e mucosas, que surgem espontaneamente ou após mínimos traumatismos. OBJETIVO: Descrever as manifestações otorrinolaringológicas, as complicações esofágicas relacionadas à EB e a experiência na conduta de pacientes com estenose esofágica decorrente da EB. CASUÍSTICA E MÉTODO: Estudo descritivo de 60 pacientes com EB, atendidos de 1999 a 2006, no serviço de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço do Hospital X, centro de referência para EB. RESULTADOS: Dos 60 pacientes com idade média de 14,5 anos, 28 (46,6 por cento) eram mulheres e 32 (53,4 por cento) homens. Oito (13,4 por cento) tinham o diagnóstico de EB simples, 51 (85 por cento) EB distrófica e um (1,6 por cento) caso de EB adquirida. Lábios, boca, língua e pavilhão auricular foram os locais mais acometidos (32 pacientes - 53,3 por cento). Disfagia foi encontrada em 28 pacientes (46,6 por cento). Após dilatação do esôfago todos apresentaram remissão do sintoma. CONCLUSÃO: EB é uma doença rara e os pacientes devem ser encaminhados para tratamento em centros de referência. Portanto, é fundamental que os médicos envolvidos com os cuidados de pacientes com EB conheçam as condutas necessárias para melhorar a qualidade do tratamento sem prejuízos adicionais.
Epidermolysis bullosa (EB) is a group of skin diseases with different clinical manifestations and varied inheritance patterns. Blisters may appear spontaneously or following minimal trauma to the skin or mucosa. AIM: this paper aims to describe the otorhinolaryngological manifestations and esophageal complications related to EB, and the experience in treating patients with esophageal stenosis secondary to this disease. MATERIALS AND METHOD: this descriptive study enrolled 60 patients with EB seen from June 1999 to December 2006 at the Head and Neck Surgery Service of X Hospital, a reference center for EB. RESULTS: the patients' mean age was 14.5 years. Twenty-eight (46.6 percent) were females and 32 (53.4 percent) were males. Eight (13.4 percent) were diagnosed with epidermolysis bullosa simplex, while 51 (85 percent) had epidermolysis bullosa dystrophica; one (1.6 percent) patient had one acquired EB. Lips, mouth, tongue and ears were the most frequently involved sites (32 patients - 53.3 percent). Dysphagia was found in 28 patients (46.6 percent). After esophageal dilatation the symptoms subsided. CONCLUSION: EB is a rare disease and patients must be sent for treatment at reference centers. Physicians treating patients for EB must be aware of the measures required to improve the quality of the treatment provided without putting the patients in harm's way.
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Young Adult , Epidermolysis Bullosa/complications , Esophageal Diseases/etiology , Otorhinolaryngologic Diseases/etiology , Case-Control Studies , Deglutition Disorders/etiology , Epidermolysis Bullosa Dystrophica/complications , Epidermolysis Bullosa Dystrophica/therapy , Epidermolysis Bullosa Simplex/complications , Epidermolysis Bullosa Simplex/therapy , Epidermolysis Bullosa/therapy , Esophageal Diseases/therapy , Young AdultABSTRACT
We report a 2-day-old baby who had double gastric outlet obstruction, rectovaginal fistula and associated epidermolysis bullosa. She recovered after excision of diaphragms, pyloroplasty and pelvic colostomy.
Subject(s)
Digestive System Surgical Procedures , Epidermolysis Bullosa/complications , Female , Gastric Outlet Obstruction/complications , Humans , Infant, Newborn , Rectovaginal Fistula/complicationsABSTRACT
La Epidermolisis Bulosa (EB) es un conjunto de enfermedades genéticas que afectan la zona de unión dermo-epidérmica y que presentan lesiones ampollares y erosiones en la piel y mucosas de todo el organismo. Los tejidos blandos y duros de la cavidad oral son afectados con diferente intensidad según la proteína alterada por la enfermedad. El compromiso máxilo-facial conlleva dificultades para la alimentación, higiene y tratamiento odontológico de los pacientes, es por esto que el pediatra, como cabeza de un equipo multidisciplinario que trata a los niños afectados, debe tener presente la importancia de derivar a sus pacientes al odontólogo para que se inicien las medidas preventivas y los tratamientos oportunos y así evitar mayores complicaciones en estos niños. Este trabajo pretende reforzar el conocimiento de las manifestaciones orales de la EB, para que la derivación de los pacientes al odontólogo sea precoz y prioritaria.
Subject(s)
Humans , Child , Mouth Diseases/etiology , Mouth Diseases/therapy , Epidermolysis Bullosa/classification , Epidermolysis Bullosa/complications , Epidermolysis Bullosa/genetics , Epidermolysis Bullosa Dystrophica/complications , Epidermolysis Bullosa Simplex/complications , Epidermolysis Bullosa, Junctional/complications , Microstomia/etiology , Mouth Mucosa/pathologyABSTRACT
In this case report, we are describing a young boy with known epidermolysis bullosa who was admitted to the hospital for foreign body removal by cricopharyngeoesphagoscopy. This patient is liable to get bullae formations with any trauma to the skin and mucous membrane, and to avoid this problem we will describe the precautions taken during anaesthetizing this case
Subject(s)
Humans , Male , Anesthesia/methods , Endoscopy, Digestive System , Epidermolysis Bullosa/complicationsABSTRACT
Background: Chronic diseases in children may determine limited sun exposure, use of drugs, and other risk factors of osteopenia. Objective: to evaluate vitamin D deficiency and their risk factor, in children with chronic diseases with suspected osteopenia. Methods: We measured bone mineral density, bone remodeling markers, calcium, phosphate, parathormone, and 25 hydroxyvitamin D levels, and wrist X-ray. Results: We found 8 children of 25 with suspected osteopenia, with biochemical abnormalities suggestive of vitamin D deficiency. All children had low levels of 25 hydroxyvitamin D, 5 had reduced bone mineral density, 4 had hyperparathyroidism, 2 had hyperphosphatasemia, and 1 hypocalcemia and hypophosphatemia. None had rickets. Discussion: Osteopenia in chronic sick children is due to multiple factors; however, vitamin D deficiency is a preventable disorder. We recommend that all children with a chronic disease with risk factors for vitamin D deficiency should be monitored with 25 hydroxyvitamin D serum levels
Subject(s)
Humans , Adolescent , Child, Preschool , Child , Vitamin D Deficiency , Bone Diseases, Metabolic , Anticonvulsants , Epidermolysis Bullosa/complications , Osteoporosis , Arthritis, Rheumatoid , Vitamin D Deficiency , Bone Diseases, Metabolic , 25-Hydroxyvitamin D 2 , Densitometry , Hydroxycholecalciferols , Chronic DiseaseABSTRACT
Os autores apresentam dois pacientes portadores de epidermólise bolhosa, com lesoes generalizadas, sindactilias nas maos, deformidade em flexao dos dedos e aduçao do polegar. Discutem a patologia, as peculiaridades do tratamento nas maos e relatam seus resultados.
Subject(s)
Humans , Child , Male , Female , Epidermolysis Bullosa/surgery , Syndactyly/surgery , Epidermolysis Bullosa/complications , Syndactyly/complicationsABSTRACT
Se presentan ocho niños con manifestaciones gastrointestinales secundarias a epidermolisis bulosa distrófica recesiva, como enfermedad de base. Las lesiones en orden de frecuencia fueron estenosis esofágica de grado y extensión variable en seis, historia de lesiones ampollosas de repetición en ocho, constipación en cinco y fusión de la lengua al piso de la boca (anquiloglosia) en dos. Se conluye que la lesión principal y más temida es la estenosis esofágica. Epidermolisis bulosa distrófica recesiva
Subject(s)
Child , Humans , Male , Female , Epidermolysis Bullosa/complications , Gastrointestinal Diseases/etiology , Anal Canal/injuries , Constipation/etiology , Epidermolysis Bullosa/therapy , Esophageal Stenosis/etiology , Mexico , Oral Manifestations/etiologyABSTRACT
Se presenta el caso de un enfermo de epidermolisis bulosa con estenosis esofágica y se discuten los hallazgos radiológicos. En virtud de que el compromiso mucoso puede ocurrir en casos moderados, y en períodos sin lesiones cutáneas activas, es importante que el radiológo esté familiarizado con los hallazos faringoesofágicos de ésta entidad para poderla reconocer