Diagnosis is based on clinical symptomatology, histopathology, electron microscopy and genetic studies. Epidermolysis bullosa eb is a rare genetic disorder that manifests by producing blisters on the skin. A clinically normal bitch was bred to her grandfather by artificial insemination. Epidermolysis bullosa is a congenital disorder characterized by. Clinical practice guidelines for nutritional support in infants and children with epidermolysis bullosa.
The prognosis of eb depends on the subtype, and therefore maximum treatment is necessary until the final diagnosis. Impact of inherited epidermolysis bullosa on parental interpersonal relationships, marital status and family size. The recessive dystrophic subtype of eb with generalized involvement is a dermatological condition producing serious mucosal lesions with sublamina dura. Neonatal epidermolysis bullosa, stepbystep diagnostic procedure. Epidermolysis bullosa an overview sciencedirect topics.
We describe a typical case of a neonate with jeb who developed failure to thrive before his death from fungal septicemia at 4 months of age. Inherited dystrophic epidermolysis bullosa in inbred dogs. Neonatal resuscitation and postresuscitation care of. Deb has two subtypes recessive epidermolysis bullosa and dominant epidermolysis bullosa. Feb 01, 20 epidermolysis bullosa eb is a heterogeneous group of inherited skin diseases characterized by increased skin fragility and variable degrees of extracutaneous involvement.
Epidermolysis bullosa eb is a heterogeneous group of congenital disorders characterized by skin blister formation. Eb is classified into three major categories, each with many subtypes based on the precise location at which separation or blistering occurs, namely epidermolysis bullosa simplex ebs, junctional epidermolysis bullosa jeb and dystrophic. Epidermolysis bullosa eb encompasses a phenotypically and genetically heterogeneous group of inherited skin disorders. Recommendations for a comprehensive management plan for the. We investigated three neonatal basset hound littermates with lesions consistent with epidermolysis bullosa eb, a group of genetic blistering diseases. Epidermolysis bullosa hereditaria letalis in newborn twins. Epidermolysis bullosa acquisita eba is an autoimmune blistering disease caused by autoantibodies against type vii collagen. Epidermolysis bullosa european association of oral medicine. Epidermolysis bullosa is an intractable skin condition characterized by the development of vesicles and bullae spontaneously or as a result of minimal trauma. Genetic analysis is important for genetic counselling and determination of risk of recurrence. Recommendations for a comprehensive management plan. Epidermolgse may help in preventing disease worsening in warm weather. Recently, several suprabasal types of ebs have been described as well. Jun 12, 2019 dystrophic epidermolysis bullosa is a hereditary heterogeneous blistering disease.
Most patients develop symptoms in the newborn period. A rare case of recessive dystrophic epidermolysis bullosa. The neonatal fc receptor fcrn regulates immunoglobulin g igg homeostasis and thus controls serum levels of antibodies. Inherited epidermolysis bullosa and the risk of death from renal disease. It classically presents with skin fragility and traumainduced blisters that. Deb is divided into two major types depending on inheritance pattern. Epidermolysis bullosa in a neonatecase report biomedical. Aug, 2014 junctional epidermolysis bullosa jeb, generalized severe previously called jeb, herlitztype has an extremely poor prognosis, with a mean age of death at 5 months old and most dead before age 3 years. Antonlamprecht pointed out that electron microscopy is particularly revealing in dominant disorders in which structural abnormality of a protein is likely to be found, whereas biochemistry is more likely to be revealing in recessive disorders. Junctional epidermolysis bullosa jeb is a devastating disease characterized by mucocutaneous blistering that.
Evaluation and treatment of the newborn with epidermolysis. Epidermolysis bullosa eb is the term given to a large group of genetically determined skin disorders in which the. A col7a1 variant in a litter of neonatal basset hounds. Epidermolysis bullosa is a group of hereditary diseases affecting 1 in 17,000 live births worldwide.
There is faulty keratin protein that functions as scaffolding for the skin, causing the skin to fall apart. Es ingresada en neonatos por presentar flicte nas en mucosa. Epidermolysis bullosa eb is a group of rare, genetic skin disorders characterized by fragility and blistering to minimal trauma. Epidermolysis bullosa eb is a term used to describe a group of rare mainly hereditary, chronic, noninflammatory diseases of skin and mucous membranes. Request pdf evaluation and treatment of the newborn with epidermolysis bullosa. Tests to monitor in patients with severe types of epidermolysis bullosa. Pdf dental management of patients with epidermolysis.
Palliative sedation with oral medicines in a neonate with. Eb is characterized by the development of bullae blisters as a result of mild to moderate trauma. Cuidados enfermeros al neonato con epidermolisis bullosa. Epidermolysis bullosa eb is a heterogeneous group of congenital blistering diseases that usually presents in the neonatal period. These may occur anywhere on the body but most commonly appear at sites of friction and minor trauma such as the feet and hands. It is usually hereditary and appears to be due to a congenital defect of skin. Epidermolysis bullosa eb is the name used to define a group of phenotipically diverse genodermatoses characterized by blisters and erosions of the skin and mucous membranes.
Epidermolisis bullosa eb is a rare hereditary disorder that its junctional type is. A col7a1 variant in a litter of neonatal basset hounds with. Feb 07, 2017 epidermolysis bullosa continues to be devastating disease with high incidence of aggressive squamous cell carcinoma scc. Localised involvement of the skin alone, as seen in our case report, is very rare. Eb is subdivided into three main subtypes eb simplex ebs. In some subtypes, blisters may also occur on internal organs, such as the oesophagus, stomach and. So far, plakophilin1, plakoglobin and desmoplakin are known to be the target proteins. It consists of blistering of the skin and mucous membranes in response to minimal trauma. Jun 24, 2020 disease definition dystrophic epidermolysis bullosa deb is a form of inherited epidermolysis bullosa eb characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. Draft standards were developed by who technical staff in the making pregnancy safer mps department and the department of reproductive health and. Epidermolysis bullosa symptoms and causes mayo clinic. Neonate with severe complications of epidermolysis bullosa and.
Epidermolysis bullosa acquisita criteria proposed in 1971 clinical lesions of dystrophic eb skin fragility, traumainduced blistering, atrophic scarring, milia, nail dystrophy adult onset lack of family ho eb exclusion of other bullous disease igg at basement membrane by dif igg beneath basal lamina. Epidermolysis bullosa eb is an inherited disorder characterized by mechanical stressinduced blistering of the skin and mucous membranes. Epidermolysis bullosa simplex 33 in contrast, suprabasal ebs is associated with abnormalities in desmosomal proteins figure 2. Epidermolysis bullosa eb is an inherited skin and connective tissue disease that causes skin fragility and bullae blisters with mild trauma. It comprises a clinically and genetically heterogeneous group of disorder characterized by spontaneous or contactfrictioninduced blistering.
The deficiency andor dysfunction of type vii collagen leads to subepidermal blistering. Epidermolysis bullosa eb is a rare blistering disease that may manifest in the neonatal period. Mutations in genes encoding structural proteins in the epidermis and dermis result in marked mechanical fragility, leading to widespread blisters, erosions, and nonhealing wounds following minor trauma. Standards for maternal and neonatal care who world health. Epidermolysis bullosa is a rare genetic disorder of skin or mucosa and may affect the eyes and nails. The neonatal fc receptor fcrn serves several functions. Management of the infant with epidermolysis bullosa. The most common types are epidermolysis bullosa simplex, junctional epidermolysis bullosa, and dystrophic epidermolysis bullosa.
We present the case of a neonatal male diagnosed with junctional epidermolysis bullosa managed exclusively with oral analgesicsedative agents, including the use of oral agents after palliative sedation was initiated. Scc is the most serious complication of epidermolysis bullosa within adults, especially those with hallopeausiemens recessive dystrophic epidermolysis bullosa. Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations in the col7a1 gene encoding type vii collagen. Epidermolysis bullosa eb is an inherited skin disease with four main subtypes that cannot be distinguished clinically at birth. All subtypes may present with widespread lifethreatening blisters and fragile skin, making treatment and handling of the newborn with eb challenging. Epidermolysis bullosa in the newborn a rare clinical entity. Epidermolysis bullosa simplex ebs is usually dominantly inherited, and involves disorders of the genes for keratins 5 and 14 and plectin.
Epidermolysis bullosa acquisita eba is a rare, chronic, autoimmune bullous dermatosis that is caused by autoantibodies against the noncollagenous terminus of the. This case highlights the ethical considerations of. Epidrmolysis bullosa comprises a group of genetically determine skin fragility disorder characterized by blistering of the skin and mucosa following mild trauma1,2,3. Neonatal epidermolysis bullosa with dystrophic nails bmj. Out of a litter of seven puppies, two affected puppies died and one was euthanized, with these puppies being submitted for diagnostic necropsy. Epidermolysis bullosa is a heterogeneous group of inherited disorders characterized by skin fragility and blistering fig.
Theres currently no cure for epidermolysis bullosa eb, but treatment can help ease and control symptoms. Epidermolysis bullosa eb consists of a rare group of genetically determined skin. Epidermolysis bullosa eb is a group of inherited diseases that are characterised by blistering lesions on the skin and mucous membranes. The clinical spectrum ranges from localized skin disease to a lifethreatening and disabling disease with extensive extracutaneous involvement. Once the mutations are identified in a family, reliable prenatal diagnosis is possible8,9,10. He had no history of hospital admission during neonatal and infancy because. Eb is classified into 4 typessimplex, junctional, dystrophic, and kindler syndromeand 30 subtypes. However, mucus membranes can be affected including pharyngoesphageal mucosa denyer et al, 2017. Abbey janse van vuuren 1, bithi roy 1, marigail padilla 1, michael melamdowitz 1, dharmesh shah 2, tushar bhuta 1.
Age of onset, symptomatology and prognosis of the various subtypes are varied. Neonatal and perinatal mortality who world health organization. The incidence of recessive deb is approximately 1 in 300. Epidermolysis bullosa nord national organization for rare. It classically presents with skin fragility and traumainduced blisters that are particularly extensive over the distal aspect. The classificationofeb has been divided into four major forms with numerous subtypes. There is faulty keratin protein that functions as scaffolding for the skin, causing the skin to fall apart and form blisters.
Epidermolysis bullosa eb is a rare genetic disease that causes mucocutaneous fragility. Extensive areas of denuded skin represent loss of the stratum corneum barrier to microbial penetration. Renal involvement in epidermolysis bullosa patients. Epidermolysis bullosa is divided into four subdivisions, and each subdivision has subtypes. Epidermolysis bullosa eb is one of the rare blistering diseases that may present in the neonatal period. Epidermolysis bullosa guideline version number version 4. All oral surfaces may be involved, including the tongue, buccal mucosa, palate, floor of the mouth and gingiva. Epidermolysis bullosa medical research foundation ebmrf. Vesicostomy as a treatment option for epidermolisis bullosa case. Management of neonatal epidermolysis bullosa eb in a. Feb 07, 2017 epidermolysis bullosa eb is a rare group of inherited disorders that manifests as blistering or erosion of the skin and, in some cases, the epithelial lining of other organs, in response to little or no apparent trauma. Epidermolysis bullosa nord national organization for. Evaluation and treatment of the newborn with epidermolysis bullosa.
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