RESUMEN
Epidermolysis bullosa (EB) is a group of rare, difficult-to-treat, inherited multisystem diseases affecting epithelial integrity. Impaired wound healing is central and can lead to serious clinical complications, deformities, and symptoms with a devastating impact on quality of life (QoL). Dressing changes and wound care are central to the management of EB. Recently Oleogel-S10 (also known as birch bark extract or birch triterpenes) was approved in Europe and the UK for treating EB wounds. This approval was based on data from the EASE phase 3 study, which demonstrated Oleogel-S10 accelerated wound healing, reduced total wound burden, and decreased the frequency of dressing changes in patients with EB. A retrospective analysis of medical records was conducted for up to 24 months in 13 patients with EB treated with Oleogel-S10 through an early access programme in Colombia. Effectiveness was assessed by measuring body surface area percentage (BSAP) and total body wound burden (EBDASI). Tolerability and safety were monitored throughout. This is the first report to evaluate the effectiveness of Oleogel-S10 in clinical practice. The results showed a reduction in percentage of BSA affected, from a mean of 27.3% at baseline to 10.4% at 24-month follow-up, despite treatment interruptions. A reduction in EBDASI skin activity score of - 16.2 (24 months) together with a reduced skin damage index score of - 15.4 (18 months) was also observed. Physicians, patients, and caregivers perceived faster wound closure. Adherence with therapy by patients was good, and patients expressed satisfaction with treatment and reported improvements in self-esteem, productivity, and social interaction. Oleogel-S10 was well tolerated; however, two patients reported worsening wounds related to gauze adherence. Two deaths during treatment interruption were reported and was not considered related to Oleogel-S10. This study supports the effectiveness of Oleogel-S10 in a real-world scenario in a country with scarce resources for the treatment of EB.
Asunto(s)
Epidermólisis Ampollosa Distrófica , Epidermólisis Ampollosa , Humanos , Epidermólisis Ampollosa Distrófica/complicaciones , Epidermólisis Ampollosa Distrófica/tratamiento farmacológico , Calidad de Vida , Estudios Retrospectivos , Cicatrización de Heridas , Epidermólisis Ampollosa/complicaciones , Epidermólisis Ampollosa/tratamiento farmacológico , Compuestos OrgánicosRESUMEN
Epidermolysis bullosa (EB) is an inherited disorder characterised by skin fragility and the appearance of blisters and wounds. Patient wounds are often colonised or infected with bacteria, leading to impaired healing, pain and high risk of death by sepsis. Little is known about the impact of bacterial composition and susceptibility in wound resolution, and there is a need for longitudinal studies to understand healing outcomes with different types of bacterial colonisation. A prospective longitudinal study of 70 wounds from 15 severe EB patients (Junctional and Recessive Dystrophic EB) from Chile. Wounds were selected independently of their infected status. Wound cultures, including bacterial species identification, composition and Staphylococcus aureus (SA) antibiotic susceptibility were registered. Wounds were separated into categories according to their healing capacity, recognising chronic, and healing wounds. Hundred-one of the 102 wound cultures were positive for bacterial growth. From these, 100 were SA-positive; 31 were resistant to Ciprofloxacin (31%) and only seven were methicillin-resistant SA (7%). Ciprofloxacin-resistant SA was found significantly predominant in chronic wounds (**P < .01). Interestingly, atoxigenic Corynebacterium diphtheriae (CD) was identified and found to be the second most abundant recovered bacteria (31/101), present almost always in combination with SA (30/31). CD was only found in Recessive Dystrophic EB patients and not related to wound chronicity. Other less frequent bacterial species found included Pseudomonas aeruginosa, Streptococus spp. and Proteus spp. Infection was negatively associated with the healing status of wounds.
Asunto(s)
Corynebacterium diphtheriae , Epidermólisis Ampollosa Distrófica , Epidermólisis Ampollosa , Infecciones Estafilocócicas , Humanos , Staphylococcus aureus , Estudios Longitudinales , Estudios Prospectivos , Epidermólisis Ampollosa/complicaciones , Infecciones Estafilocócicas/tratamiento farmacológico , Cicatrización de Heridas , Ciprofloxacina , Epidermólisis Ampollosa Distrófica/complicacionesRESUMEN
ABSTRACT: Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic condition in which mutations in the type VII collagen gene ( COL7A1 ) lead to decreased expression of this anchoring protein of the skin, causing the loss of stability at the dermo-epidermal junction. Most patients with RDEB experience neuropathic pain and itch due to the development of a small fibre neuropathy, characterised by decreased intraepidermal innervation and thermal hypoaesthesia. To understand the physiopathology of this neuropathy, we used a mouse model of RDEB (Col7a1 flNeo/flNeo ) and performed a detailed characterisation of the somatosensory system. Col7a1 flNeo/flNeo mice showed a decrease in heat sensitivity, an increase in spontaneous scratching, and a significant decrease in intraepidermal nerve fibre density in the hindpaw; these changes were distal because there was no significant loss of unmyelinated or myelinated fibres in the nerve trunk. Of interest, we observed a decrease in axon diameter in both myelinated and unmyelinated fibres. This axonal damage was not associated with inflammation of the dorsal root ganglion or central projection targets at the time of assessment. These results suggest that in RDEB, there is a distal degeneration of axons produced by exclusive damage of small fibres in the epidermis, and in contrast with traumatic and acute neuropathies, it does not induce sustained neuroinflammation. Thus, this animal model emphasizes the importance of a healthy cutaneous environment for maintenance of epidermal innervation and faithfully replicates the pathology in humans, offering the opportunity to use this model in the development of treatments for pain for patients with RDEB.
Asunto(s)
Epidermólisis Ampollosa Distrófica , Neuropatía de Fibras Pequeñas , Animales , Colágeno Tipo VII/genética , Colágeno Tipo VII/metabolismo , Modelos Animales de Enfermedad , Epidermólisis Ampollosa Distrófica/complicaciones , Epidermólisis Ampollosa Distrófica/genética , Epidermólisis Ampollosa Distrófica/patología , Humanos , Ratones , Mutación/genética , Piel/metabolismo , Neuropatía de Fibras Pequeñas/metabolismoRESUMEN
BACKGROUND: Epidermolysis bullosa (EB) is a complex and heterogeneous dermatological disease. Four main types of EB have been described, each of them with distinct characteristics: EB simplex (EBS), dystrophic EB (DEB), junctional EB (JEB) and Kindler EB (KEB). Each main type varies in its manifestations, severity, and genetic abnormality. METHODS: We sought mutations in 19 genes known to cause EB and 10 genes associated with other dermatologic diseases in 35 Peruvian pediatric patients of a rich Amerindian genetic background. Whole exome sequencing and bioinformatics analysis was performed. RESULTS: Thirty-four of 35 families revealed an EB mutation. Dystrophic EB was the most frequently diagnosed type, with 19 (56%) patients, followed by EBS (35%), JEB (6%), and KEB (3%). We found 37 mutations in seven genes; 27 (73%) were missense mutations; 22 (59%) were novel mutations. Five cases changed their initial diagnosis of EBS. Four were reclassified as DEB and one as JEB. Inspection into other non-EB genes revealed a variant, c.7130C>A, in the gene FLGR2, which was present in 31 of the 34 patients (91%). CONCLUSION: We were able to confirm and identify pathological mutations in 34 of 35 patients.
Asunto(s)
Epidermólisis Ampollosa Distrófica , Epidermólisis Ampollosa de la Unión , Epidermólisis Ampollosa , Humanos , Niño , Secuenciación del Exoma , Perú , Epidermólisis Ampollosa/complicaciones , Epidermólisis Ampollosa de la Unión/complicaciones , Epidermólisis Ampollosa de la Unión/genética , Epidermólisis Ampollosa de la Unión/patología , Epidermólisis Ampollosa Distrófica/complicaciones , Epidermólisis Ampollosa Distrófica/patologíaAsunto(s)
Epidermólisis Ampollosa Distrófica , Epidermólisis Ampollosa , Poroma , Neoplasias de las Glándulas Sudoríparas , Epidermólisis Ampollosa/genética , Epidermólisis Ampollosa Distrófica/complicaciones , Epidermólisis Ampollosa Distrófica/genética , Genes Recesivos , Humanos , Piel , Neoplasias de las Glándulas Sudoríparas/complicaciones , Neoplasias de las Glándulas Sudoríparas/diagnósticoRESUMEN
OBJECTIVES: To present early teeth extractions as a treatment option in severe dental crowding in patients with generalized recessive dystrophic epidermolysis bullosa (RDEB). MATERIALS AND METHODS: Three patients with generalized RDEB were treated with early teeth extractions to prevent severe dental crowding. RESULTS: Two patients had bilateral upper first premolars extraction, and the third patient had permanent maxillary canine extraction. Crowding was avoided, and no further orthodontic treatment was necessary. CONCLUSION: Considering the challenges of severe mucosal fragility and microstomia in patients with generalized RDEB, early teeth extractions are a reasonable option as an orthodontic management. This approach reduces the severity of dental crowding as the child gets older and reduces the need for orthodontic appliances. Individual factors such as access to dental care, general health, and oral health have an important impact on the decision-making process. Orthodontic treatment planning should include a multidisciplinary team.
Asunto(s)
Epidermólisis Ampollosa Distrófica , Epidermólisis Ampollosa , Niño , Epidermólisis Ampollosa Distrófica/complicaciones , Humanos , Salud Bucal , Extracción DentalRESUMEN
La epidermolisis bullosa distrófica es un grupo de trastornos hereditarios de muy baja prevalencia que se caracterizan por una extrema fragilidad cutánea como consecuencia de una alteración de la cohesión de la unión epidermodérmica. Sin embargo, las manifestaciones clínicas van más allá de las lesiones cutáneas, habiéndose descrito afectación de la mayoría de aparatos y sistemas y siendo frecuente también cierto grado de desnutrición y anemia de origen multifactorial. Presentamos el caso de una paciente de 34 años, secundigesta, con epidermólisis bullosa distrófica recesiva severa, gestante gemelar bicorial y biamniótica, que seguimos durante todo el embarazo y su finalización. La baja prevalencia de la enfermedad hace que el manejo de la gestación suponga un reto para el ginecobstetra. A pesar de que los casos publicados hacen creer que la gestación no modifica el curso natural de la enfermedad, lo cierto es que se recomienda que el embarazo sea seguido por un equipo multidisciplinar. Existen publicados casos en los que se finaliza la gestación por vía vaginal, sin embargo, no existe evidencia suficiente para considerar ésta como la vía de elección.
Dystrophic epidermolysis bullosa is a group of hereditary disorders that has very low prevalence. It is characterized by an extreme cutaneous fragility as a consequence of a cohesion alteration of the epidermis and dermis junction. However, the clinical manifestations also affect other systems and organs, being able to cause malnutrition and anemia. We present the case of a 34-year-old woman affected by severe recessive dystrophic epidermolysis bullosa, with a bichorial and biamniotic twin pregnancy, whom we have followed throughout the pregnancy. The low prevalence of this disease makes the management of the pregnancy a challenge for the obstetrician. Although the published cases suggest that gestation does not modify the natural course of the disease, it is recommended that these pregnancies are monitored by a multidisciplinary team. Some published cases describe vaginal delivery. Nevertheless, it is not clear that this should be the first choice.
Asunto(s)
Humanos , Femenino , Embarazo , Adulto , Complicaciones del Embarazo , Epidermólisis Ampollosa Distrófica/complicaciones , Embarazo Gemelar , Resultado del Embarazo , CesáreaRESUMEN
Caso clínico: femenino de 18 años con diagnóstico de epidermolisis ampollosa distrófica (EAD) quién desarrolló una neoformación nodular sobre una úlcera crónica. Se diagnosticó carcinoma epidermoide (CE) invasor al que se realizó resección. Sin embargo, 5 meses después del tratamiento quirúrgico presentó metástasis a ganglios, pulmón e hígado con desenlace fatal. Comentarios: el CE es la causa más importante de muerte en pacientes con EAD. Suele ser agresivo y metastásico. Se recomienda una vigilancia cada 3 a 6 meses para realizar diagnóstico y tratamiento oportunos (AU)
Case report: 18-year-old female patient with dystrophic epidermolysis bullosa (DEB) who developed a tumor over a chronic ulcer. She was diagnosed with invasive squamous cell carcinoma (SCC) and underwent surgical resection. However, 5 months later she presented metastases to the lymph nodes, lung and liver with a fatal outcome. Comments: SCC is the most important cause of death in patients with DEB. It is usually aggressive and metastatic. Surveillance every 3 to 6 months is recommended for prompt diagnosis and treatment (AU)
Asunto(s)
Humanos , Femenino , Adolescente , Neoplasias Cutáneas/complicaciones , Úlcera Cutánea/complicaciones , Carcinoma de Células Escamosas/complicaciones , Epidermólisis Ampollosa Distrófica/complicaciones , Neoplasias Cutáneas/cirugía , Neoplasias Cutáneas/patología , Carcinoma de Células Escamosas/cirugía , Carcinoma de Células Escamosas/patología , Enfermedad Crónica , Conducto Inguinal , Neoplasias Hepáticas/secundario , Neoplasias Pulmonares/secundario , Neoplasias Abdominales/secundarioRESUMEN
BACKGROUND: Cutaneous squamous cell carcinoma (cSCC) is the leading cause of death in patients with recessive dystrophic epidermolysis bullosa (RDEB). We provide the management and prognosis of cSCC in RDEB patients at a Spanish reference center. MATERIALS AND METHODS: We retrospectively included patients with RDEB attended in La Paz University Hospital from November 1988 to October 2018. RESULTS: Fourteen patients developed at least one cSCC. Tumors were predominantly well differentiated. Nearly half of the tumors have recurred. Median time to first recurrence was 23.4 months (95% CI: 17.2-29.5). Five patients have developed distant metastases. Median overall survival (mOS) was 136.5 months since the diagnosis of the first cSCC (95% CI: 30.6-242.3). When distant metastases occurred, mOS was 6.78 months (95% CI: 1.94-11.61). CONCLUSIONS: cSCC is a life-threatening complication of RDEB patients. Although tumors are usually well differentiated, they tend to relapse. This is the first Spanish report of cSCC arising in RDEB patients.
Asunto(s)
Carcinoma de Células Escamosas/etiología , Epidermólisis Ampollosa Distrófica/complicaciones , Neoplasias Cutáneas/etiología , Adolescente , Adulto , Carcinoma de Células Escamosas/epidemiología , Carcinoma de Células Escamosas/mortalidad , Carcinoma de Células Escamosas/terapia , Epidermólisis Ampollosa Distrófica/mortalidad , Femenino , Humanos , Neoplasias Pulmonares/secundario , Masculino , Recurrencia Local de Neoplasia , Pronóstico , Estudios Retrospectivos , Neoplasias Cutáneas/epidemiología , Neoplasias Cutáneas/mortalidad , Neoplasias Cutáneas/terapia , España/epidemiología , Factores de Tiempo , Adulto JovenRESUMEN
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis characterized by abnormalities in the anchoring fibrils which attach the basal cell layer of the epidermis to the underlying structures. A characteristic feature of this disorder is the presence of recurrent blistering or erosions, the result of even minor traction to these tissues. Patients with RDEB frequently develop chronic renal failure, and require renal replacement therapy being a major cause of morbidity and mortality. The role of renal transplantation in these patients is scarcely known. We present the case of an end-stage renal disease patient with RDEB treated by renal transplantation and his follow-up during a period of 83 months after the transplant. In this period, there were very low frequency of serious infections as well as the absence of skin tumors. Renal transplantation could be an alternative to renal replacement therapy in epidermolysis bullosa patients with end-stage renal disease, reducing the comorbidities associated with this treatment.
La epidermolisis bullosa distrófica recesiva (EBDR) es una genodermatosis extremadamente infrecuente, caracterizada por la existencia de alteraciones a nivel de las fibras de anclaje que unen la membrana basal de la epidermis a las estructuras subyacentes. Un elemento característico de esta entidad es la formación recurrente de ampollas en piel y mucosas ante traumatismos mínimos, con posterior cicatrización. Los pacientes con EBRD frecuentemente desarrollan enfermedad renal crónica y requieren de terapia de reemplazo renal, constituyendo una importante causa de morbilidad y mortalidad en estos pacientes. El rol del trasplante renal es poco conocido en este tipo de pacientes.Se presenta el caso de un paciente con enfermedad renal terminal y EBDR que es tratado con trasplante renal y su seguimiento a lo largo de un período de 83 meses luego del trasplante. Durante dicho período se observó una baja frecuencia de intercurrencias infecciosas, así como la ausencia de desarrollo de neoplasias cutáneas. El trasplante renal podría ser una alternativa a la terapia de reemplazo dialítica en los pacientes con epidermolisis bullosa asociada a enfermedad renal terminal, reduciendo las comorbilidades asociadas a las terapias dialíticas.
Asunto(s)
Epidermólisis Ampollosa Distrófica/complicaciones , Fallo Renal Crónico/etiología , Fallo Renal Crónico/cirugía , Trasplante de Riñón , Adulto , Estudios de Seguimiento , Humanos , Masculino , Complicaciones Posoperatorias , Factores de Tiempo , Resultado del TratamientoRESUMEN
PURPOSE: This study describes ophthalmologic and systemic clinical findings in different subtypes of epidermolysis bullosa (EB) establishing genotype-phenotype correlations. METHODS: A cross-sectional study was conducted in 58 patients with EB together with the Dystrophic Epidermolysis Bullosa Research Association, Chile. Data were stratified by major subtypes such as "simplex epidermolysis bullosa" (EBS), "junctional epidermolysis bullosa" (JEB), "recessive and dominant dystrophic epidermolysis bullosa" and "dominant dystrophic epidermolysis bullosa" (DDEB), and "Kindler syndrome" (KS). The diagnosis was confirmed by skin immunofluorescence mapping and genetic testing. Best-corrected visual acuity, corneal erosions, corneal scarring, symblepharon, blepharitis, ectropion, limbal stem cell deficiency, and esophageal involvement were assessed. Clinical outcome was based on the presence of corneal involvement attributable to EB. RESULTS: The most common ocular manifestations were corneal erosion/scarring and recurrent erosions. Frequencies of the EB subtypes were as follows: 17% EBS, 12% JEB, 16% DDEB, 53% recessive and DDEB, and 2% KS. Patients with EBS and DDEB did not reveal ocular involvement. Patients with recessive dystrophic epidermolysis bullosa (RDEB) were most affected by the disease showing corneal involvement in 16 cases, whereas 2 patients with JEB and the single KS case also showed corneal disease. Before their visit, 24 patients had undergone esophageal dilation, 23 of them with RDEB and 1 with KS. CONCLUSIONS: Although ophthalmic complications are common in EB, the incidence varied with the EB subtype. We also establish the correlation between esophageal and corneal involvement in RDEB.
Asunto(s)
Enfermedades de la Córnea/epidemiología , Epidermólisis Ampollosa/complicaciones , Adolescente , Adulto , Niño , Preescolar , Enfermedades de la Córnea/etiología , Enfermedades de la Córnea/patología , Enfermedades de la Córnea/fisiopatología , Estudios Transversales , Epidermólisis Ampollosa/genética , Epidermólisis Ampollosa/patología , Epidermólisis Ampollosa Distrófica/complicaciones , Femenino , Genotipo , Humanos , Incidencia , Lactante , Masculino , Persona de Mediana Edad , Fenotipo , Agudeza Visual , Adulto JovenRESUMEN
Small fibres in the skin are vulnerable to damage in metabolic or toxic conditions such as diabetes mellitus or chemotherapy resulting in small fibre neuropathy and associated neuropathic pain. Whether injury to the most distal portion of sensory small fibres due to a primary dermatological disorder can cause neuropathic pain is still unclear. Recessive dystrophic epidermolysis bullosa (RDEB) is a rare condition in which mutations of proteins of the dermo-epidermal junction lead to cycles of blistering followed by regeneration of the skin. Damage is exclusive to the skin and mucous membranes, with no known direct compromise of the nervous system. It is increasingly recognized that most RDEB patients experience daily pain, the aetiology of which is unclear but may include inflammation (in the wounds), musculoskeletal (due to atrophy and retraction scars limiting movement) or neuropathic pain. In this study we investigated the incidence of neuropathic pain and examined the presence of nerve dysfunction in RDEB patients. Around three quarters of patients presented with pain of neuropathic characteristics, which had a length-dependent distribution. Quantitative sensory testing of the foot revealed striking impairments in thermal detection thresholds combined with an increased mechanical pain sensitivity and wind up ratio (temporal summation of noxious mechanical stimuli). Nerve conduction studies showed normal large fibre sensory and motor nerve conduction; however, skin biopsy showed a significant decrease in intraepidermal nerve fibre density. Autonomic nervous system testing revealed no abnormalities in heart rate and blood pressure variability however the sympathetic skin response of the foot was impaired and sweat gland innervation was reduced. We conclude that chronic cutaneous injury can lead to injury and dysfunction of the most distal part of small sensory fibres in a length-dependent distribution resulting in disabling neuropathic pain. These findings also support the use of neuropathic pain screening tools in these patients and treatment algorithms designed to target neuropathic pain.
Asunto(s)
Epidermólisis Ampollosa Distrófica/fisiopatología , Hiperalgesia/fisiopatología , Neuralgia/etiología , Neuropatía de Fibras Pequeñas/fisiopatología , Adulto , Presión Sanguínea/fisiología , Estudios de Casos y Controles , Chile/epidemiología , Epidermólisis Ampollosa Distrófica/complicaciones , Epidermólisis Ampollosa Distrófica/patología , Femenino , Respuesta Galvánica de la Piel/fisiología , Frecuencia Cardíaca , Humanos , Hiperalgesia/complicaciones , Incidencia , Masculino , Fibras Nerviosas/patología , Fibras Nerviosas/fisiología , Conducción Nerviosa/fisiología , Neuralgia/complicaciones , Neuralgia/epidemiología , Umbral Sensorial , Piel/patología , Piel/fisiopatología , Neuropatía de Fibras Pequeñas/complicaciones , Neuropatía de Fibras Pequeñas/patología , Maniobra de Valsalva/fisiología , Adulto JovenRESUMEN
La epidermolisis bullosa es una enfermedad de origen genético caracterizada por una marcada fragilidad de la piel y las mucosas, resultando en la aparición de lesiones vesiculobullosas y/o desprendimientos tisulares de aparición espontánea o, más comúnmente, como consecuencia de roce mecánico. La formación de cicatrices con retracción tisular genera a nivel oral obliteración vestibular, anquiloglosia y microstomía, complicándose la rehabilitación odontológica y, en particular, la protésica. El presente artículo describe una alternativa protésica, simple y económica, para una paciente desdentada parcial con epidermolisis bullosa distrófica recesiva.
Epidermolysis bullosa is a rare genetic disease that is characterised by the formation of blisters and erosions on the skin and mucous membranes following minor traction or trauma. Oral manifestations of the disease include obliteration of the vestibule, ankyloglossia, and microstomia. Oral rehabilitation, and prosthetic rehabilitation, in particular, is a challenge. This article describes a simple, inexpensive prosthetic alternative for a partially edentulous patient with recessive dystrophic epidermolysis bullosa.
Asunto(s)
Humanos , Adolescente , Femenino , Arcada Parcialmente Edéntula/rehabilitación , Dentadura Parcial Removible , Epidermólisis Ampollosa Distrófica/complicaciones , Enfermedades Dentales/rehabilitación , Arcada Parcialmente Edéntula/etiología , Rehabilitación Bucal , Enfermedades Dentales/etiologíaRESUMEN
Epidermolysis bullosa (EB) is characterized by extreme fragility of the skin and mucosae. Anesthetic and surgical techniques have to be adapted to those children and routine practice may not be adequate. Urological problems are relatively common, but surgical techniques adapted to those children have not been well debated and only low evidence is available to this moment. Herein we discuss the specifics of anesthetic and surgical techniques chosen to treat a six year old EB male presenting with symptomatic phimosis.
Asunto(s)
Anestesia General/métodos , Epidermólisis Ampollosa Distrófica/cirugía , Fimosis/cirugía , Procedimientos Quirúrgicos Urológicos Masculinos/métodos , Niño , Epidermólisis Ampollosa Distrófica/complicaciones , Humanos , Masculino , Fimosis/etiología , Dispositivos de Fijación Quirúrgicos , Resultado del Tratamiento , Procedimientos Quirúrgicos Urológicos Masculinos/instrumentaciónRESUMEN
Epidermolysis bullosa (EB) is characterized by extreme fragility of the skin and mucosae. Anesthetic and surgical techniques have to be adapted to those children and routine practice may not be adequate. Urological problems are relatively common, but surgical techniques adapted to those children have not been well debated and only low evidence is available to this moment. Herein we discuss the specifics of anesthetic and surgical techniques chosen to treat a six year old EB male presenting with symptomatic phimosis.
Asunto(s)
Niño , Humanos , Masculino , Anestesia General/métodos , Epidermólisis Ampollosa Distrófica/cirugía , Fimosis/cirugía , Procedimientos Quirúrgicos Urológicos Masculinos/métodos , Epidermólisis Ampollosa Distrófica/complicaciones , Fimosis/etiología , Dispositivos de Fijación Quirúrgicos , Resultado del Tratamiento , Procedimientos Quirúrgicos Urológicos Masculinos/instrumentaciónRESUMEN
BACKGROUND: Epidermolysis bullosa (EB) nevi are acquired pigmented melanocytic lesions which may have clinical and dermoscopic features quite similar to those found in melanoma. More detailed information on this phenomenon is still lacking. OBJECTIVES: To evaluate clinical, dermoscopic, and histopathological features of melanocytic lesions in 13 patients with dystrophic EB (DEB). PATIENTS AND METHODS: Patients underwent clinical and dermoscopic evaluation. Suspicious lesions were excised and examined microscopically. RESULTS: There were 12 cases of recessive DEB and one of dominant DEB. Five patients were men; 8 were women; the ages ranged from 2 to 27 years old. All patients had at least 2 atypical melanocytic lesions. Two of the 5 biopsied patients showed an atypical nevus or lentigo on histopathological examination. CONCLUSIONS: We observed a high incidence of large and atypical melanocytic lesions in DEB patients. Although the exact explanation for this is still unclear, it seems that re-epithelization and the chronic inflammatory process may stimulate the proliferation of melanocytes, as well as the emergence of lesions with atypical clinical and dermoscopic features. As an unequivocal discrimination from malignant melanoma in vivo is not always possible, regular clinical follow-up and histopathological evaluation of suspicious lesions in EB patients are mandatory.
Asunto(s)
Dermoscopía , Epidermólisis Ampollosa Distrófica/diagnóstico , Nevo Pigmentado/diagnóstico , Neoplasias Cutáneas/diagnóstico , Piel/patología , Adolescente , Adulto , Niño , Preescolar , Epidermólisis Ampollosa Distrófica/complicaciones , Femenino , Humanos , Masculino , Nevo Pigmentado/etiología , Neoplasias Cutáneas/etiología , Adulto JovenRESUMEN
Epidermolysis bullosa (EB) is a rare congenital disease characterized by the formation of blisters following minimal trauma. Oral health can be compromised by oral bullae, perioral fibrosis, ankyloglossia, and a high risk for dental caries, all of which lead to a decreased quality of life. The purpose of this paper is to report the case of an 11-year-old female who presented with autosomal recessive dystrophic EB. Besides the skin manifestations, the extra- and intra-oral exams revealed lesions on the lips and mucosa, microstomia, ankyloglossia, depapillated tongue, and carious teeth. This case emphasizes that patients diagnosed with EB require multidisciplinary care, with the dentist playing an important role in oral health management.
Asunto(s)
Epidermólisis Ampollosa Distrófica/complicaciones , Enfermedades de la Boca/etiología , Enfermedades de la Boca/terapia , Salud Bucal , Niño , Atención Dental para Niños , Atención Dental para Enfermos Crónicos , Femenino , HumanosRESUMEN
AIM: To describe the options of treatment to remove a sialolith associated with the submandibular gland duct in a patient with epidermolysis bullosa (EB). BACKGROUND: Treatment of patients with EB is very complex and involves a multidisciplinary team. This condition is characterized by a spectrum of blistering and mechanical fragility of the skin. One main feature of this disease is the esophageal constriction and possible constriction to the submandibular duct. This alteration may induce the formation of calculi in this duct, which is called sialolith. Once the sialolith obliterates the trajectory of the duct this will lead to a sialolithiasis. The calculi have to be removed. CASE REPORT: Seventeen years old female patient with dystrophic EB developed a sialolith at the submandibular duct. She has a limited mouth opening and her tongue was collapsed with mouth floor. The first choice of treatment was the lithotripsy, once this procedure is less invasive and a surgical remove could worse the collapsed tongue. She was with acute pain and with a great augmentation in the submandibular area. Once the patient was debilitated and has difficult to swallow she invariably needed to be hospitalized in order to receive intravenous medication. During the hospitalization the sialolith could be seen through the opening of the duct and the calculi was removed with local anesthesia. CONCLUSION: The treatment of sialolithiasis usually does not present major challenges, nevertheless if the sialolithiasis is associated with EB, the treatment became an extremely challenge. In this particular case the option of treatment was the less invasive. CLINICAL RELEVANCE: This case report has an enormous clinical relevance once there is no protocol to treat patients with EB and buccal diseases.
Asunto(s)
Epidermólisis Ampollosa Distrófica/complicaciones , Cálculos del Conducto Salival/diagnóstico , Enfermedades de la Glándula Submandibular/diagnóstico , Adolescente , Trastornos de Deglución/etiología , Femenino , Humanos , Enfermedades de los Labios/etiología , Planificación de Atención al Paciente , Enfermedades de la Lengua/etiologíaRESUMEN
Epidermolysis bullosa (EB) is a heterogeneous group of rare genetic disorders characterized by marked fragility of the skin and mucous membranes in which vesiculobullous lesions occur in response to trauma, heat or no apparent cause. The recessive form of EB presents the greatest oral alterations including repeated blistering and scar formation leading to limited oral opening, ankyloglossia, tongue denudation, microstomia, vestibule obliteration and predisposition to oral carcinoma. Routine dental care may cause bullae formation on the lips and oral mucosa. Together with the ingestion of soft and frequently carbohydrate food, these anomalies lead to a high caries risk. This paper documents a case of a child diagnosed with recessive dystrophic epidermolysis bullosa (RDEB); describes the phases and difficulties of dental treatment and the measures that dentists and health care providers should adopt in order to provide a safe and effective dental treatment as well as earlier prevention to these patients.
Asunto(s)
Atención Dental para Enfermos Crónicos , Epidermólisis Ampollosa Distrófica/complicaciones , Enfermedades de la Boca/terapia , Cariostáticos/uso terapéutico , Niño , Cicatriz/etiología , Caries Dental/etiología , Caries Dental/prevención & control , Susceptibilidad a Caries Dentarias , Profilaxis Dental , Femenino , Fluoruros Tópicos/uso terapéutico , Gingivitis/etiología , Humanos , Enfermedades de los Labios/etiología , Enfermedades de la Boca/etiología , Higiene Bucal , Planificación de Atención al PacienteRESUMEN
Epidermolysis bullosa (EB) is a heterogeneous group of rare genetic disorders characterized by marked fragility of the skin and mucous membranes in which vesiculobullous lesions occur in response to trauma, heat or no apparent cause. The recessive form of EB presents the greatest oral alterations including repeated blistering and scar formation leading to limited oral opening, ankyloglossia, tongue denudation, microstomia, vestibule obliteration and predisposition to oral carcinoma. Routine dental care may cause bullae formation on the lips and oral mucosa. Together with the ingestion of soft and frequently carbohydrate food, these anomalies lead to a high caries risk. This paper documents a case of a child diagnosed with recessive dystrophic epidermolysis bullosa (RDEB); describes the phases and difficulties of dental treatment and the measures that dentists and health care providers should adopt in order to provide a safe and effective dental treatment as well as earlier prevention to these patients.
Epidermólise bolhosa compreende um grupo heterogêneo de desordens genéticas raras caracterizadas pela fragilidade da pele e do tecido mucoso, nos quais surgem lesões bolhosas em resposta à injúrias traumáticas, ao calor ou até mesmo sem causa aparente. Na forma recessiva da doença, repetidos episódios de bolhas e formação de tecido cicatricial nos tecidos orais acabam por tornar a mucosa atrófica causando microstomia, anquiloglossia, desnudamento da língua e predisposição a desenvolvimento de carcinomas. Os simples cuidados rotineiros com a saúde bucal podem levar a formação das bolhas na mucosa bucal e nos lábios. A falta de higiene adequada associada a um consumo elevado de carboidratos e alimentos mais pastosos aumentam o risco de cárie nestes pacientes. Este relato documenta o caso de uma criança com diagnóstico de epidermólise bolhosa distrófica recessiva, descrevendo as dificuldades e as fases do tratamento odontológico realizado, enfatiza as medidas adotadas pelos profissionais de saúde para propiciar um tratamento seguro e efetivo, bem como a importância de se instituir um programa de prevenção bucal o mais precoce possível.