Management of epidermolysis bullosa simplex in pregnancy: A case report

We report our experience with the care of a parturient woman diagnosed with EBS. There is little literature on pregnancy in women with this condition. Special precautions are necessary during diagnostic and therapeutic interventions to avoid bullae formation or exacerbation of existing lesions. Frictional or shearing forces are typically more damaging than compressive forces. Multidisciplinary planning was done for our patient to ensure uneventful labor and delivery. Elective induction of labor was started at 40 weeks of gestation. She eventually underwent a cesarean delivery after failed trial of labor. We present this case to highlight the obstetric and anesthetic implications of caring for a parturient with EBS.
Source: Case Reports in Womens Health - Category: OBGYN Source Type: research

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AbstractTo describe the utilization of Next Generation Sequencing technologies for genetic counseling and prenatal diagnosis. Ten families requested prenatal testing in view of previously affected offspring with genetically heterogeneous/hitherto undiagnosed disorders. Next generation sequencing was offered as a first tier investigation (1) in the probands who had not been diagnosed by baseline investigations, and (2) in cases where preliminary examination/testing suggested a genetically heterogeneous disorder, while the precise diagnosis was not available. The subsequently identified molecular basis enabled prenatal testi...
Source: Journal of Fetal Medicine - Category: Perinatology & Neonatology Source Type: research
We present 2 cases of pregnant women with recessive dystrophic epidermolysis bullosa managed in our High-Risk Pregnancy Unit at Hospital Universitario La Paz, Madrid, Spain. Both patients underwent full-term cesarean delivery, with no further complications for mother or child.Although recessive dystrophic epidermolysis bullosa increases the risk of maternal complications, a patient is not advised against pregnancy. With adequate monitoring, these patients can fulfil their desire to become mothers.ResumenLa epidermólisis bullosa distrófica es una enfermedad hereditaria rara debida a mutaciones del gen COL7A1. ...
Source: Actas Dermo-Sifiliograficas - Category: Dermatology Source Type: research
Rationale: Epidermolysis bullosa (EB) refers to a group of rare inherited mechanobullous disorders that present with great clinical and genetic heterogeneity. Its severity ranges from mild blistering to life-threatening. However, the clinical symptoms of different types of EB overlap significantly, especially at an early stage. Thus it is important to clarify the diagnosis for prognostic implications, patient management, and genetic counseling. Patient concerns: Here, we report a 10-day-old male neonate from a nonconsanguineous Chinese family. He showed a bulla on the left lower limb lasting for 3 days, erosions aroun...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
This article summarizes and weighs the risks and benefits of the various agents used to treat AIBD during pregnancy. We also present the available information on lactation as well as effects on male fertility.
Source: American Journal of Clinical Dermatology - Category: Dermatology Source Type: research
We present 2 cases of pregnant women with recessive dystrophic epidermolysis bullosa managed in our High-Risk Pregnancy Unit at Hospital Universitario La Paz, Madrid, Spain. Both patients underwent full-term cesarean delivery, with no further complications for mother or child. Although recessive dystrophic epidermolysis bullosa increases the risk of maternal complications, a patient is not advised against pregnancy. With adequate monitoring, these patients can fulfil their desire to become mothers. PMID: 29203033 [PubMed - as supplied by publisher]
Source: Actas Dermo-Sifiliograficas - Category: Dermatology Authors: Tags: Actas Dermosifiliogr Source Type: research
AbstractAutoimmune subepidermal blistering diseases of the skin and mucosae constitute a large group of sometimes devastating diseases, encompassing bullous pemphigoid, gestational pemphigoid, mucous membrane pemphigoid, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. Their clinical presentation is polymorphic. These autoimmune blistering diseases are associated with autoantibodies that target distinct components of the basement membrane zone of stratified epithelia. These autoantigens represent structural proteins important for maintenance of dermo-epidermal integrity. Bullous pemphigoid (BP) is the most common...
Source: Clinical Reviews in Allergy and Immunology - Category: Allergy & Immunology Source Type: research
Epidermolysis bullosa (EB) is a heterogeneous group of hereditary disorders in which extreme fragility of the skin and mucous membranes leads to the formation of blisters and ulcers, spontaneously or following minor trauma.1,2 Extracutaneous involvement may also occur, dependent on the type of EB, with manifestations in skin adnexa, teeth, the gastrointestinal and urinary tract and pulmonary epithelia.1
Source: International Journal of Obstetric Anesthesia - Category: Anesthesiology Authors: Tags: Case report Source Type: research
Abstract We aimed to better understand the pathogenesis, clinical features, prognosis, and treatment of neonatal autoimmune blistering diseases (AIBDs). We searched Medline, Embase, PubMed, Latin American and Caribbean Health Sciences Literature, and reference lists of identified articles. Inclusion criteria were articles published from 1946 to December 2014 in any language. Exclusion criteria were age greater than 4 weeks and no confirmed AIBD diagnosis. We identified 51 cases of neonatal AIBDs: 34 cases of pemphigus (31 pemphigus vulgaris [PV], 3 pemphigus foliaceus [PF]) and 17 cases of pemphigoid diseases (9 bullous pe...
Source: Pediatric Dermatology - Category: Dermatology Authors: Tags: Review Source Type: research
ABSTRACT A 31‐year‐old pregnant woman was referred to us at 34.6 weeks' menstrual age for sonographic evaluation of a fetal left lower limb abnormality. Sonographic findings revealed shortening of the left tibia and dorsal hyperflexion of the left foot. There was no family history of genetic disease, and the maternal serum alpha‐fetoprotein concentration was normal. A male infant was born with extensive skin peeling, mainly on his left leg, associated with muscular dystrophy. Epidermolysis bullosa was confirmed on a skin biopsy; the neonate died 53 days after birth as a result of severe sepsis. Although cutaneous epi...
Source: Journal of Clinical Ultrasound - Category: Radiology Authors: Tags: Case Report Source Type: research
Source: Journal of the European Academy of Dermatology and Venereology - Category: Dermatology Authors: Tags: Letter to the Editor Source Type: research
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