Epidermólise bolhosa distrófica recessiva mitis: relato de caso clínico. Article ( PDF Available) in Anais Brasileiros de Dermatologia 80(5) · October with Início · Epidermólise Bolhosa · O que é a EB? Cuidados Básicos · Info para nova realidade num mundo cheio de desafios. O que é a Epidermólise Bolhosa?. A epidermólise bolhosa hereditária (EBH) compreende um grupo heterogêneo de desordens genéticas que têm em comum a fragilidade cutânea e, em alguns .
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Children with a recurrent history of these kinds of lesions or neonates that present them in the absence of another epiidermolise explanation should be investigated. Diagnosis must be based bolhlsa clinical and histopathological findings. To date, management of inherited EB basically consists in avoiding traumas that trigger lesions, as well as holhosa infection and facilitating healing of the wounds with the systematic use of bandages.
Inherited epidermolysis bullosa EB is a group of genetically transmitted skin disorders characterized by spontaneous blistering or blistering caused by minor trauma. Representation of the proteins affected in different types of inherited epidermolysis bullosa.
Translated from the original published in Clinics in Dermatology, ,30 1: Estimates of the incidence and prevalence of inherited EB were made using different techniques for various populations worldwide.
The clinical presentation of inherited EB varies according to the type of disease, and diagnosis can only be reached by skin biopsy and immunofluorescence or electron microscopy, the latter being considered the gold standard.
Epidermolysis bullosa simplex EBS is characterized by a disorder of keratinocytes, intraepidermal blistering and little systemic involvement. Nail dystrophy, alopecia and mucosal lesions may occur in more severe forms of the disease. Skin lesions usually disappear without scarring. Blistering decreases with age.
Inheritance is typically autosomal dominant, although rare cases of autosomal recessive inheritance have been documented. The intraepidermal cleavage observed in EBS is the result of mutations in the K5 and K14 genes, which encode the production of keratin and type I and II intermediate filament proteins, expressed in keratinocytes of the basal layer of the epidermis and epithelial-related complexes.
EBS is subdivided as follows: The milder forms of EBS present with blisters that are usually caused by an identifiable traumatic event. The Weber-Cockaine subtype EBS-WC is epidermolis by mild to severe blistering and palmoplantar topography, and patients may concomitantly show hyperhidrosis.
Variable blistering, followed by muscular dystrophy in adulthood, can be seen in EBS with muscular dystrophy, a defect in the expression of plectin. Late myopathy is due to the fact that there is plectin in the composition of bolohsa cytoskeleton of skeletal muscles. The severity of skin lesions does not necessarily correlate with the degree of muscular dystrophy.
Some patients may also present dental abnormalities. As its name suggests, EBS with pyloric atresia presents with pyloric atresia at birth and, usually, blistering is widespread. In most patients, even with correction of pyloric atresia, prognosis is unfavorable, given the extent of systemic involvement. Although the disease is described as precociously fatal, some individuals with milder symptoms can survive during childhood.
Junctional epidermolysis bullosa JEB is an autosomal recessive disorder characterized by separation of the lamina lucida in the dermo-epidermal junction. Involvement of the oral mucosa, alopecia and anonychia are frequent. Cases of JEB with congenital epidermoolise atresia and, more rarely, of other epjdermolise of the gastrointestinal tract, have been described in the literature.
Although patients present with a phenotype virtually identical to that of EBS with pyloric atresia, intra-lamina lucida cleavage of blisters characterizes these patients as having JEB. Patients present with erosions around the lips, eyes and nose, often accompanied by significant hypertrophy of the granulation tissue.
Epidermólise bolhosa hereditária: aspectos clínicos e terapêuticos
There is corneal, conjunctival, tracheobronchial, oral, pharyngeal, esophageal, rectal, and genitourinary mucosal involvement. Hoarseness, coughing and other respiratory symptoms are frequent and exuberant. Patients with Herlitz JEB are at high risk of death from sepsis, often not surviving after childhood. Among individuals with JEB, those who survive infancy may show clinical improvement with age and present what is called JEB epudermolise. Often, these patients’ respiratory system is not as strongly involved as that of those with the Herlitz form of the disease.
However, abnormalities in the scalp, nails and teeth become more apparent. Periorificial erosions and hypertrophy of the granulation tissue may be present.
Mucous membranes are often affected by erosions, resulting in stenosis. Some patients with JEB mitis may present blisters in intertriginous areas. The generalized atrophic benign HEB is a relatively mild subtype characterized by skin blisters present at birth.
The activity of the lesions is compounded by increasing temperature, healing with a distinctive atrophic appearance. Extracutaneous involvement is rare, with the exception of enamel hypoplasia, which results in the development of cavities.
Nail atrophy and alopecia are other common manifestations. Individuals with this type of JEB have a life expectancy similar to that of the general population. Dystrophic epidermolysis bullosa DEB is due to mutations in the gene encoding type VII collagen, resulting in defective anchoring fibrils and consequent separation of the sub-basal lamina.
Millium formation occurs due to damage in the hair follicles.
DEB may be associated with autosomal recessive or dominant inheritance. In the dominant subtype DDEB boohosa manifestations usually occur at birth or during childhood, with generalized blistering. With increasing age, blisters tend to be more localized. In another variant, described by Pasini, there is also involvement of the oral mucosa and teeth, but blistering is more extensive and similar to papules on the trunk albopapuloid lesions.
Dystrophy or anonychia are common to both forms of DDEB. The recessive subtype RDEB may have a mild to severe clinical presentation. It usually shows clinical manifestations similar to those of other inherited forms of dystrophic EB. Flexural contractures of the extremities are common and intensify with age. Malabsorption often leads to iron-deficiency anemia, and protein-calorie malnutrition causes deficit in global development.
Patients with severe RDEB who survive childhood have a significant risk of developing aggressive squamous cell carcinoma in areas of chronic lesions. Kindler syndrome KS is an autosomal epidermo,ise genodermatosis epidermoliise can clinically simulate all three classic types of inherited EB.
Other clinical findings include trauma-induced blistering common to all inherited EBdry and atrophic skin, lichenification and photosensitivity of proximal surfaces. Generally, KS is associated with disruption of the basement membrane and abnormal deposition of type VII collagen both in regions with active lesions and in epirermolise areas. Immunohistochemical examination shows that blistering occurs in the lamina lucida.
As opposed to other mechano-bullous diseases, there are multiple cleavage planes intradermal, junctional or sub-lamina densa and other dermatological findings such as poikiloderma and photosensitivity also differentiate KS from all other forms of inherited EB. Besides the typical blistering and erosions secondary to the mechanical fragility of the skin, inherited EB may lead to the formation of millium, nail dystrophy or anonychia. Exuberant granulation tissue periorificial, in the axillary, occipital, lumbosacral, and periungual regions or at fingertips and palmoplantar keratoderma localized or confluent may be present.
Other less common and nonspecific findings include reduced bokhosa absent hair, recurrent epidermoise lesions on the lower trunk, hypo-or hyperhidrosis. Even in the recessive form of DEB, patients show no specific alopecia. In the presence of anemia, reversible telogen effluvium may occur. Complete absence of hair, eyelashes and eyebrows is a distinct finding that occurs in lethal acantholytic EB.
Localized or diffuse alopecia can be observed in Herlitz JEB. In some patients, alopecia presents a typical androgenetic pattern. The degree of capillary involvement varies considerably between individuals with deficient type XVII collagen. There is gradual alopecia in areas of frictional trauma and blistering in patients with DEB. Kindler syndrome is not associated with alopecia. In theory, any portion of the gastrointestinal tract, except the gallbladder, pancreas and liver, may be affected in patients with Herlitz JEB, occurring more intensely in RDEB.
The most severe complication is stenosis of the esophagus because it compromises swallowing. Malabsorptive syndrome may be secondary to denudation of the small bowel mucosa. Anemia can be partially improved with iron supplementation and blood transfusions. This process is compromised by multiple factors including foreign bodies, bacteria, deficiency of nutritional factors and tissue hypoxia.
Exogenous agents such as glucocorticoids and penicillamine contribute to impaired wound healing. Optimization of healing occurs with control of these factors. Patents with Herlitz JEB heal slowly, probably due to deficiency of laminin Extensive areas of bare skin show loss of stratum corneum barrier and allow microbial penetration.
The accumulation of lymph and moisture in the surface increases bacterial growth. Severe subtypes of Herlitz JEB correlate with immunological abnormalities, including reduced production of lymphocytes.
Inherited epidermolysis bullosa: clinical and therapeutic aspects
Along with poor nutritional status, there is decreased resistance to infections. Staphylococcus aureus and Streptococcus pyogenes are often the etiological agents, although infections with gram-negative bacteria may also occur.
Patients usually show greater susceptibility to develop sepsis, with a high risk of death in early childhood. With extensive bare areas or areas of crusting, strict care must be taken.
This regimen includes the use of topical antibiotics. Self-adhesive dressing is a good choice to keep the areas covered. The formation of recurring vesicles along the urethra, in the ureterovesical junction and ureters can generate obstructive processes culminating with hydronephrosis. There may be chronic renal failure secondary to hydronephrosis, streptococcal glomerulonephritis, mesangial IgA disease and amyloidosis.
Both can occur in childhood, causing scarring and progressive visual impairment, if not treated. Ears, nose and throat. The most significant complication is partial or complete occlusion of the airways, usually resulting from stenosis of the vocal cords, which can quickly lead to death.
It is seen almost exclusively in some subtypes of JEB and can occur in the first year of life. Enamel hypoplasia, which facilitates the formation of cavities and tooth loss, is a pathognomonic characteristic of all types of JEB, while microstomia and ankyloglossia are typical of RDEB. Aggressive dental intervention can increase functionality and contribute to increased nutrient uptake.
Progressive contracture of the hands and feet mitten deformities may develop in the first year of life and is seen primarily in the Hallopeau-Siemenes subtype of RDEB. Surgical intervention may improve hand functionality, although repeated procedures are necessary to maintain this functionality. Osteopenia and osteoporosis are common in RDEB.