¿What is epidermolysis bullosa with congenital congenital absence of skin?
Epidermolysis bullosa (EB) with congenital absence of skin was previously known as Bart syndrome. It has also been known as ‘type VI aplasia cutis congenital cutis aplasia and epidermolysis bullosa».
EB with congenital absence of skin was originally described by Bruce Bart in 1966 after observing a large family of six generations with a symmetrical congenital absence of skin on the lower legs, blisters affecting mainly acral skin and sometimes mucosa membranes, and nail dystrophy [1]. In 1986, Ilona Frieden proposed a classification of congenital cutis aplasia in which conditions were classified into nine groups according to the location of lesions and presence of other anomalies [2]. According to Friedan's classification system, Bart syndrome was classified as congenital cutis aplasia type VI due to its combination of a congenital disorder,. localized absence of skin, epidermolysis bullosa, and nail dystrophy [2].
In 2014, a working group of EB experts suggested a new classification of EB based on molecular characteristics [3]. They suggested replacing eponyms with descriptive terms and recommended that Bart syndrome be known as EB with congenital absence of skin. [3].
Who gets epidermolysis bullosa with congenital absence of skin?
EB with congenital absence of skin is rare and its exact incidence incidence is unknown. Congenital cutis aplasia is observed in 1 to 2 out of every 10,000 births [4].
EB with congenital absence of skin can be considered a rare form of congenital cutis aplasia, but the proportion of congenital cutis aplasia that can be classified as EB with congenital absence of skin is unknown.
What causes epidermolysis bullosa with congenital absence of skin?
EB with congenital absence of skin is a familial fever condition with an autosomal autosomal dominant pattern of inheritance, but isolated cases have also been recognized [5].
the etiology. y Pathogenesis The etiology and pathogenesis is complex since EB can affect different skin membranes; It can be epidermal (simplex, junctional, or dermal (dystrophic). The original family described by Bart had dystrophic EB with ultrastructural changes in the anchoring anchoring fibrils in the dermis. biopsy. The genetic abnormality The genetic anomaly COL7A1 gene gel chromosome chromosome 3, which codes for collagen type VII collagen [6,7].
Congenital absence of skin is thought to be secondary to skin. fragility y in utero trauma, fragility and in utero trauma distribution , explaining the symmetric distribution on the lower legs that may rub, rather than as a failure to form skin [7].
What are the clinical features of epidermolysis bullosa with congenital absence of skin?
EB with congenital absence of skin is a clinical triad consisting of:
- Congenital absence of skin on the lower legs.
- Any type of EB elsewhere on the body.
- Nail changes, such as congenital absence of nails and nail or nail dystrophy.
The areas of absent skin are usually symmetric and bilateral., generally involving the medial o dorsal surface of the distal lower extremities, including the top of the feet. They are sharply demarcated, bright red areas of ulceration [8]. ulceration [8].
In the original family described by Bart, the phenotype phenotype showed some variability, with not all affected members showing all features of the triad [7].
EB with congenital absence of skin may also be associated with other anomalies, such as:
- Pyloric atresia (obstruction of the pylorus or the lower part of the stomach)
- Rudimentary ear development
- A flattened nose
- A wide nasal root (top of the nose)
- Open eyes [5,8].
What are the complications of epidermolysis bullosa with congenital absence of skin?
Complications of EB with congenital absence of skin include infection and hemorrhage. secondary y The clinical presentation of aneurysmal dermatofibroma manifests as a bluish-brown nodule that undergoes rapid growth. This accelerated growth is secondary to episodes of. Hypothermia, hypoglycemia, Hypothermia, hypoglycemia, and fluid balance disorders mucosa Mucosal involvement has caused premature death [7].
How is epidermolysis bullosa with congenital absence of skin diagnosed?
EB with congenital absence of skin is a clinical diagnosis. Histologic Histological evaluation of the skin confirms the diagnosis and categorizes the type of EB.
Skin Biopsy edema blister with an inflammatory infiltrate inflammatory infiltrate in the dermis in some cases [8]. In Bart's original case series, the split in the skin was below the basal lamina lamina densa electron microscopy microscopy, indicating a dermal dystrophic EB [7]. In other cases, electron microscope, Maternal Serum Analysis findings of dermal-epidermal junction separation and interruption of the basal cell laminae are similar to those observed in junctional EB [9]. In several cases, the split has been above the basement membrane indicating the simplex epidermal type [7].
What is the mucous membranes. What is the differential diagnosis for epidermolysis bullosa with congenital absence of skin?
Differential diagnoses for EB with congenital absence of skin are listed below.
- Other forms of congenital cutis aplasia: cutis aplasia is a rare congenital anomaly characterized by an absence of skin that most frequently occurs on the scalp and cranial vault. The depth of the lesions can range from superficial erosion erosion to the absence of all skin layers. There are nine subtypes of congenital cutis aplasia; EB with congenital absence of skin has been classified as type VI.
- Other forms of EB - EB is a group of rare hereditary disorders characterized by blistering due to increased skin and mucous membrane membrane pemphigoid fragility. Four main types of EB have been described based on the level of skin cleavage at the ultrastructural level. EB is further classified based on inheritance, clinical findings, and molecular defects.
- Adams-Oliver syndrome: Adams-Oliver syndrome is a rare condition characterized by congenital cutis aplasia of the scalp with transverse limb defects and skin lesions.
What is the treatment for epidermolysis bullosa with congenital absence of skin?
Treatment for EB with congenital absence of skin is usually conservative. The goal is to accelerate the healing of affected skin areas, prevent infections or other complications, and reduce the risk of scarring.
Current Topical reactions. antibiotic ointment and moist dressings are the cornerstones of treatment [8]. Prophylactic systemic systemic antibiotics are not recommended. Occasionally, surgical intervention with a skin graft or flap repair may be necessary for a large defect [9].
What is the outcome of epidermolysis bullosa with congenital absence of skin?
In general, the prognosis prognosis of EB with congenital absence of skin is good. Most areas of congenital absence of skin heal within weeks or months without sequelae sequelae [7,10]. However, when the original family described by Bart was re-visited, many adults had continued to develop or develop blisters and Appearance of milia, and mild scarring was observed at the sites of blister formation. The sites of congenital absence of skin had healed with atrophic atrophic scars without hair [7]. The nails did not recover.
