Epidermólisis bullosa en el perú: estudio clínico y epidemiológico de pacientes atendidos en un hospital pediátrico de referencia nacional, 1993-2015 / Epidermolysis bullosa in peru: clinical and epidemiological study of patients treated in a national reference pediatric hospital, 1993-2015

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.

Epidermólisis bullosa: piel de mariposa. A propósito de un caso / Epidermolysis bullosa: butterfly skin. Apropos of a case

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).

Epidermolysis bullosa pruriginosa: A case with a novel mutation and co-existent lichen amyloidosus.

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.

Manifestações clínicas da epidermólise bolhosa: revisão de literatura / Clinical manifestations of epidermolysis bullosa: a literature review

Introdução: A epidermólise bolhosa é uma dermatose hereditária rara, caracterizada pelo desenvolvimento de bolhas na região cutâneo-mucosa de todo o corpo, em resposta ao trauma mínimo, ao calor ou a nenhuma causa aparente, podendo manifestar-se ao nascimento ou durante os primeiros anos de vida. Sua classificação é determinada pela modalidade de herança genética, distribuição anatômica das lesões e morbidez associada à doença, distinguindo-se em três grupos principais: epidermólise bolhosa simples, juncional e distrófica, que englobam mais de 30 entidades distintas. O desenvolvimento de bolhas em pele e mucosas e as deformidades decorrentes de tais lesões interferem sobremaneira na atenção à saúde bucal, assim, é importante que o cirurgião dentista conheça a epidermólise bolhosa e esteja preparado para assistir o paciente portador dela. Objetivo: Foi realizada ampla revisão da literatura acerca da epidermólise bolhosa, enfatizando suas manifestações clínicas e os principais aspectos que interferem com a saúde bucal dos pacientes acometidos por essa condição e com sua assistência odontológica. O objetivo foi subsidiar o profissional de saúde, possibilitando que o mesmo preste a adequada assistência ao paciente, contribuindo para a melhora de sua saúde bucal e consequentemente de sua qualidade de vida. Conclusão: As alterações primárias e secundárias da epidermólise bolhosa tornam um verdadeiro desafio para o cirurgião-dentista à condução do tratamento odontológico para o paciente com esta rara dermatose. Antes de iniciar o tratamento, é fundamental entrar em contato com a equipe de saúde responsável pelo acompanhamento clínico do paciente. Apesar de o tratamento odontológico reabilitador ser possível, sua condução é bastante desgastante, envolvendo riscos para o paciente. Assim, a promoção da saúde e a prevenção das doenças bucais devem ser enfatizadas e iniciadas o mais precocemente possível.

Introduction: Epidermolysis bullosa is a rare inherited skin condition characterized by the development of blisters on mucocutaneous regions of the body in response to minor traumas, heat or no apparent cause. It may manifest at birth or during the first years of life. Its classification is determined by genetics, anatomical distribution of the lesions and associated morbidity. It is divided into three main groups: epidermolysis bullosa simplex, junctional and dystrophic, covering over 30 different entities. The development of blisters in the skin and mucous membranes, and the deformities resulting from such lesions interfere excessively in the oral health, thus it is important for the dentist to know epidermolysis bullosa and to be prepared to assist patients with this condition. Objective: A comprehensive review of the literature on epidermolysis bullosa was conducted, emphasizing its clinical manifestations and the key issues that interfere with the oral health of patients suffering from the condition and with their dental care. The aim was to aid the health professionals, enabling them to provide adequate patient care, contributing to the improvement of their oral health and consequently their quality of life. Conclusion: The primary and secondary damages of epidermolysis bullosa become a real challenge for the dentist to conduct dental treatment for patients with this rare dermatosis. Before starting the treatment, it is essential to contact the health care team responsible for monitoring the patient's condition. A rehabilitating dental treatment is possible, but its conduction is very stressful, involving risks to the patient. Thus, health promotion and prevention of oral diseases should be emphasized and initiated as early as possible.

Frequency of genodermatoses among Iraqi patients

Genodermatoses are hereditary skin disorders or anomalies which can be grouped into three categories: chromosomal, single gene and multifactorial. Most genodermatoses show single gene or Mendelian inheritance [autosomal dominant, autosomal recessive or X-linked recessive genes]. To asses the frequency of genodermatoses among Iraqi patients in outpatients Dermatology and Venereology comparison with other countries. This case series descriptive epidemiological study included eighty three patients [57males and 26 females] with genodermatoses. They consulted the out patient clinic/ Department of Dermatology and Venereology Baghdad Teaching Hospital from April 2005 through April 2006. Their ages ranged from 2months-60 years [Median 10 years],With various genetic diseases. Full history, dermatological and clinical examinations were done to establish the clinical diagnosis of genodermatoses regarding all demographic points related to these disorders. The frequency of genodermatoses among outpatient attendant in Dermatology and Venereology Department was 837 20000 [0.42%]. This study had shown that the most common genodermatoses were; ichthyosis: 21 [25.3%] patients and epidermolysis bullosa which contain 16 [19.3%] patients when taken together they constituted 37 [44.6%] patients of the total, neurofibromatosis 8 [9.6%], hereditary palmoplantar keratoderma 6 [7.2%], darier's disease 5 [6%] and xeroderma pigmentosa 4 [4.8%]. Positive family history of the same disease was obtained in;8 [38.1%] patients with ichthyosis, 4 [66.6%] in hereditary palmoplantar keratoderma, 2 [12.5%] in epidermolysis bullosa and all patients with Hailey-Hailey disease had positive family history of the same condition. Consanguinity was positive in; 13 [61.9%] patients of ichthyosis, 12 [75%] epidermolysis bullosa, 2 [33.3%] hereditary palmoplantar keratoderma and [100%] patients with xeroderma pigmentosa Genodermatoses are frequently encountered among Iraqi dermatological outpatients and more common in families with positive consanguinity and were comparable to other countries

Pyloric atresia associated with epidermolysis bullosa.

We present 5 cases of pyloric atresia associated with junctional epidermolysis bullosa, from 2003 to 2005. Patients underwent laparatomy after stabilization. Four neonates had gastroduodenostomy, and the other had excision of membrane and pyloroplasty. Four survived and one died from fulminant septicemia. Although the association of pyloric atresia with epidermolysis bullosa has been reported to be fatal, our study showed good survival rate.