Prurit généralisé sine materia en dermatologie à Cotonou (Bénin) / Generalized sine materia pruritus in dermatology in Cotonou

Introduction. Le prurit généralisé sine materia peut altérer la qualité de vie des patients. L'objectif de cette étude était d'en documenter les caractéristiques épidémiologiques, cliniques et étiologiques en dermatologie à Cotonou. Méthodes.Une étude rétrospective et descriptive a été réalisée dans le service de dermatologie du Centre National Hospitalier et Universitaire de Cotonou du 1er janvier 2009 au 31 décembre 2018. Elle a inclus tous les patients chez qui le diagnostic de prurit généralisé sine materia était retenu sur la base d'arguments cliniques. En cas d'orientation clinique, un examen paraclinique à visée étiologique était demandé. Résultats.La prévalence du prurit généralisé sine materia était de 1,2% (126 cas/10627 consultants). Les adultes jeunes de 31-50 ans (34,1%) et les sujets âgés de plus de 60 ans (15,1%) étaient les plus atteints. La sex-ratio était de 1,1. Le prurit était le plus souvent chronique (80,2%), d'intensité légère à modérée (83,3%), intermittent (71,4%) et sans horaire (77,8%). Les principales étiologies retrouvées étaient l'eau (32,5%), les savons irritants (30,2%), la xérose cutanée (18,3%), la sénescence (12,7%). Les maladies internes ont été retrouvées dans 28,6% des cas. Dans 4% des cas, aucune étiologie n'a été retrouvée. Conclusion. Le prurit généralisé sine materia en dermatologie à Cotonou était plus fréquent chez les adultes jeunes et les sujets âgés. Les étiologies étaient dominées par les facteurs environnementaux et les anomalies physiologiques cutanées.

Study of a family with epidermolysis bullosa simplex resulting from a novel mutation of KRT14 gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the molecular etiology for a Chinese pedigree affected with epidermolysis bullosa simplex (EBS).</p><p><b>METHODS</b>Target region sequencing using a hereditary epidermolysis bullosa capture array combined with Sanger sequencing and bioinformatics analysis were used. Mutation taster, PolyPhen-2, Provean, and SIFT software and NCBI online were employed to assess the pathogenicity and conservation of detected mutations. One hundred healthy unrelated individuals were used as controls.</p><p><b>RESULTS</b>Target region sequencing showed that the proband has carried a unreported heterozygous c.1234A>G (p.Ile412Val) mutation of the KRT14 gene, which was confirmed by Sanger sequencing in other 8 affected individuals but not among healthy members of the pedigree. Bioinformatics analysis indicated that the mutation is highly pathogenic. Remarkably, 3 members of the family (2 affected and 1 unaffected) have carried a heterozygous c.1237G>A (p.Ala413Thr) mutation of the KRT14 gene, which was collected in Human Gene Mutation Database (HGMD). Bioinformatics analysis indicated that the mutation may not be pathogenic. Both mutations were not detected among the 100 healthy controls.</p><p><b>CONCLUSION</b>The novel c.1234A>G(p.Ile412Val) mutation of the KRT14 gene is probably responsible for the disease, while c.1237G>A (p.Ala413Thr) mutation of KRT14 gene may be a polymorphism. Compared with Sanger sequencing, target region capture sequencing is more efficient and can significantly reduce the cost of genetic testing for EBS.</p>

Weber-Cockayne Type Epidermolysis Bullosa Simplex Resulting from a Novel Mutation (c. 608T>C) in the Keratin 5 Gene

Epidermolysis bullosa simplex (EBS), an inherited genetic disorder, is most often caused by a dominant-negative mutation in either the keratin 5 (KRT5) or the keratin 14 (KRT14) gene. These keratin mutants result in a weakened cytoskeleton and cause extensive cytolysis. It is important to analyze the KRT5 or KRT14 genes of the patient and their family members by mutational analysis in order to identify genetic defects as well as the need for genetic counseling. In this study, we present a 5-year-old Korean boy who had been developing blisters and erosions on the palms of his hands and soles of his feet since infancy. In addition, while his younger sister and father showed similar clinical manifestation, his mother did not. The patient was diagnosed with EBS based on clinical manifestation, which is characterized by the presence of blisters restricted to the palms and soles, histological findings, and mutational analysis. Mutational analysis of the patient's DNA revealed a thymine-to-cytosine transition at codon 608 in the KRT-5 gene, resulting in a leucine-to-proline substitution in the keratin 5 protein. The same mutation was identified in the paternal, but not maternal, DNA. Here, we report a case of Weber-Cockayne type EBS with vesicles and bullae restricted to the palms and soles with a novel, paternally inherited mutation in KRT5 gene (exon2, c.608T>C).

A Case of Epidermolysis Bullosa Simplex (Other Generalized Type) / 대한피부과학회지

The other generalized type of epidermolysis bullosa simplex (EBS) is a genetic blistering skin disease, caused by a mutation of the genes encoding keratin 5 and 14. EBS starts at birth and is characterized by generalized blisters following a minor trauma that heals with hyperpigmentation. A 19-year-old man presented with 19-year history of multiple erythematous vesicles in a herpetiform arrangement on the trunk, axilla, and thigh with post-inflammatory hyper-pigmentations. On light and electron microscopy, the biopsy specimen showed intraepidermal blisters that formed within the basal keratinocyte. The serum from a patient with bullous pemphigoid antibody and laminin 5 antibody showed the linear deposition at the floor of the blister on immunofluorescence mapping study. On the basis of our clinical, microscopic, and immunofluorescence findings, we diagnosed the patient as having a generalized type of EBS. Herein, we report on an interesting case of the other generalized type of EBS.

Nevo da epidermólise bolhosa: caso clínico e revisão da literatura / Epidermolysis bullosa nevus: case report and literature review

Lesões melanocíticas adquiridas assemelhando-se à melanoma têm sido descritas nos principais grupos da Epidermólise bolhosa, e referidas como "Nevos da Epidermólise bolhosa''. Induzem facilmente ao erro diagnóstico, apesar de nenhuma transformação maligna ter sido descrita. Relatamos o desenvolvimento de um nevo melanocítico adquirido grande no local de bolhas recorrentes em uma criança de 5 anos portadora de Epidermólise bolhosa simples. O padrão dermatoscópico global foi sugestivo de benignidade, e os achados histopatológicos foram compatíveis com um nevo melanocítico composto. Este é o primeiro caso de um Nevo da Epidermólise bolhosa publicado na literatura brasileira.

Acquired melanocytic lesions resembling malignant melanoma have been described in all major categories of Epidermolysis bullosa and referred to as "Epidermolysis bullosa nevi''. They easily induce to diagnostic error, although no malignant transformation has been reported. We report the development of a large acquired melanocytic nevus at a site of recurrent blisters in a 5-year-old child with Epidermolysis bullosa simplex. The global dermoscopic pattern was suggestive of benignity, and the histopathological findings were compatible with a compound melanocytic nevus. This is the first published case of Epidermolysis bullosa nevi in Brazilian literature. Despite their benign behavior, we emphasize the importance of regular clinical and dermoscopic monitoring, since a malignant course still cannot be totally excluded.

Mutation analysis of keratin 5 and keratin 14 genes in a family with epidermolysis bullosa simplex with mottled pigmentation / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify keratin 5 (K5) and keratin 14 (K14) gene mutations in a family affected with epidermolysis bullosa simplex with mottled pigmentation.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples obtained from eleven patients from the family and controls. All the exons of K5 and K14 genes were amplified using polymerase chain reaction (PCR) and directly sequenced.</p><p><b>RESULTS</b>By DNA sequence analysis, a missense mutation in K5 gene (c.237C>T) was detected. The same mutation was not found in non-affected members from the family and normal controls.</p><p><b>CONCLUSION</b>Mutation in K5 gene (c.237C>T) may be responsible for the development of disease in this family.</p>

The Use of Cultured Allogenic Keratinocyte Grafting in a Patient with Epidermolysis Bullosa Simplex

Epidermolysis bullosa (EB) is a rare genetic disease that is known for continuous skin blistering caused by minor trauma. The skin blisters and bullae that develop often cause skin defects. There is no definitive treatment for EB, only symptomatic relief. We report our experience with cultured allogenic keratinocyte grafting in a newborn patient with EB simplex who had unhealed raw surfaces and was not a skin grafting candidate. The skin lesions of the patient were covered with cultured allogenic keratinocyte grafts and re-epithelialized quickly with no scarring. Allogenic keratinocyte grafting reduced pain and produced noticeable improvements in the unhealed wounds. We think that allogenic keratinocyte grafting can play an important role in the management of patients with EB simplex.

Dominant Dystrophic Epidermolysis Bullosa / 대한피부과학회지

Dystrophic epidermolysis bullosa is a rare, chronic non-inflammatory bullous disease with a hereditary pattern of occurrence, and this disease easily produces bullae that heal with scarring and milium formation. A 13-month-old female baby was brought to the department of dermatology with multiple variable sized bullae and erythematous to dark brownish patches and crusts on both her feet. The histopathologic findings showed subepidermal non-inflammatory blisters and the electron microscopic findings showed vacuolization of the sublamina densa and broken anchoring fibrils. On the basis of the clinical and microscopic findings, she was diagnosed as having dominant dystrophic epidermolysis bullosa. We report here on a case of dominant dystrophic epidermolysis bullosa with the clinical, histological and electron microscopic findings, as well as the family history of the patient.

Manifestações otorrinolaringológicas e esofágicas da epidermólise bolhosa / Otorhinolaryngological and esophageal manifestations of epidermolysis bullosa

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.

Proposta de protocolo de tratamento odontológico em pacientes com epidermólise bolhosa hereditária / Dental treatment protocol proposal in patients with hereditary bullous epidermolysis

A epiderólise Bolhosa (EB) está associada a diversas manifestações orais, as quais podem envolver tecidos moles e duros intra-orais. As características e a extensão do envolvimento oral variam consideravelmente entre os tipo da doença. Nas formas brandas, a mucosa oral pode apresentar bolhas ocasionalmente e não há acometimento dos dentes, enquanto nas formas mais debilitantes, toda a mucosa oral é gravemente afetada, podendo haver alterações dentárias. O tratamento odontológico deve considerar os diversos aspectos e as limitações da doença, permitindo que esses pacientes beneficiem-se com a manutenção de uma dentição natural e saudável.

Manifestaciones orales de la epidermolisis bulosa en el niño / Oral manifestations in children with Epidermolysis Bullosa

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.

Estudo clínico dos pacientes portadores de vitiligo no Serviço de Dermatologia do HU-UFJF / Clinical study of patients with vitiligo in the dermatology department of HU-UFJF

Os autores apresentam um estudo clínico dos pacientes portadores de vitiligo no Serviço de Dermatologia do Hospital Universitário da UFJF. Foram cadastrados 40 pacientes, no período compreendido entre março de 2000 a março de 2001. Foram avaliados dados referentes à idade do início da enfermidade, característica inicial, doenças associadas, fatores precipitantes, peliose, fenômeno de Koebner, história familiar, classificação e terapêutica.

'Neural network' algorithm to predict severity in epidermolysis bullosa simplex.

BACKGROUND AND AIMS: There are various genotypic variations known for the four phenotypic presentations of epidermolysis bullosa simplex (EBS). A neural network algorithm may be used to find the relationship between the various factors responsible for a particular phenotypic presentation. We assessed the value of neural network to predict the prognosis of epidermolysis bullosa simplex. METHODS: Cases of EBS in which sequencing had been performed to identify the position and type of mutation were collected by literature search and the resulting data was analyzed using neural network algorithm. RESULTS: The statistical prediction had an accuracy rate of 78%. CONCLUSION: Neural networks can identify hidden patterns in a huge database without the intervention of a skilled statistician. It has the potential to change the way we analyze clinical and experimental data at present.

Inherited epidermolysis bullosa; an immunohistochemical study

In this study, 25 cases of epidermolysis bullosa and 10 age matched controls were screened for the abnormalities in keratin 5, 14 and collagen VII using immunoperoxidase staining with monoclonal antibodies. In epidermolysis bullosa simplex [EBS] cases, cytokeratin 14 staining was significantly less than normal controls in the basal cells, while the suprabasal cells [the roof of the blister] did not differ significantly from the suprabasal cells of the controls. On the other hand, cytokeratin 5 revealed a marked positive staining of the upper and lower surfaces of the blister, but the difference was statistically significant only when the upper surface of the blister was compared with the suprabasal cells of the controls. Inherited epidermolysis bullosa represents a group of diseases for which the cardinal feature is blistering in response to mechanical trauma. In most cases, the inheritance pattern can be deduced and the transmission of the mutation through the family follows the principles of Mendelian inheritance

A Case of Koebner Variant of Epidermolysis Bullosa Simplex

Epidermolysis bullosa simplex (EBS), characterized by a cleavage plane through basal keratinocytes, is caused by a mutation of the genes encoding keratin 5 and 14. It is often regarded as the least severe form of Epidermolysis bullosa. In 1886, Koebner described the seasonal blisterings predominantly on the palms and soles but occurring on the other sites of friction with clothes as well. His name is often used to describe EBS with the generalized blisterings. We have experienced a case of Koebner variant of EBS in a two-day old male neonate whose father had the same EBS. Hereby, we report his clinical, histopathological findings with a brief review of the literature.

Two Cases of Epidermolysis Bullosa Simplex (Dowling-Meara Type) / 대한피부과학회지

The Dowling-Meara type of epidermolysis bullosa simplex is a rare genodermatosis transmitted by autosomal dominant pattern. It starts during the first 3 months of life and is characterized by generalized bullae in a herpetiform pattern. We report two cases of Dowling-Meara type of epidermolysis bullosa simplex. The first case is an 18-year-old male patient who showed bullae in a herpetiform arrangement on the dorsa of both hands, forearms, and trunk, hyperkeratosis on the palms and soles, postinflammatory hypo- and hyperpigmentations, and dystrophy of finger and toe nails. The second case is a 1-month-old boy who showed multiple bullae in a herpetiform and confluent arrangement scattered on the whole body, particularly on the dorsa of both feet and hands. Microscopically and electro-microscopically, two cases all showed intraepidermal blisters formed within the basal keratinocyte in association with clumping of the tonofilaments and cytolysis of the basal cells.

Epidermolysis bullosa simplex (Dowling-Meara type) associated with pyloric atresia and congenital urologic abnormalities

We report a case of epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM), which was associated with congenital pyloric atresia (PA) and various urologic abnormalities, a diagnosis confirmed by immunofluorescence mapping and electron microscopic findings. Immunofluorescent mapping showed the serum from a patient with bullous pemphigoid faintly binding to the floor of the blister, and monoclonal antibodies against type IV and VII collagens were also stained on the floor of the blister. Electron microscopy showed epidermolytic cleavage and prominent clumping of tonofilaments in the basal and suprabasal keratinocytes. An abdominal radiograph and barium swallow showed a complete obstruction at the pyloric channel level. The widespread bullae healed without any scar formation and the bullae formation was localized on the extremities after 3 months of age without any specific treatment. Multiple urologic abnormalities such as bilateral hydronephrosis, hydroureter and a distended bladder with trabeculation were observed at 12 months of age. Currently, with the patient at 4 years of age, bullae still appear on the hands and feet and nail shedding can be observed. The patient's father, a paternal uncle and a paternal aunt had had similar bullous eruptions in infancy, all of which had improved spontaneously by the age of one.

A Possible Case of Epidermolysis Bullosa Simplex with Mottled Pigmentation / 대한피부과학회지

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare subtype of EBS and characterized by blistering of the skin, mottled pigmentation, and palmoplantar hyperkeratosis. We report a 3-year-old boy with mottled pigmentation on the posterior neck, flank, buttock, and extremities, blisters on palm, and skin-colored keratotic papules on the hands and feet. He had had a history of blistering on his calves. His mother has similar skin lesions to her son's.