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Dr Hilary Brown, General Practitioner, Newcastle Skin Check, Newcastle, NSW, Australia. DermNet Editor in Chief: Adjunct A/Prof Dr Amanda Oakley, Dermatologist, Hamilton, New Zealand. Copy edited by Gus Mitchell. September 2019.
EB with congenital absence of skin was originally described by Bart in 1966 after observing a large family of six generations with symmetrical congenital absence of skin on the lower legs, blistering affecting mainly acral skin and sometimes mucous membranes, and nail dystrophy . In 1986, Frieden proposed a classification of aplasia cutis congenita in which conditions were classified into nine groups according to location and presence of other anomalies . Bart syndrome was classified as type VI aplasia cutis congenita by its combination of a congenital localised absence of skin, epidermolysis bullosa, and nail dystrophy.
In 2014, a working group of experts in EB suggested a new classification of EB based on molecular features . They suggested the substitution of eponymous names with descriptive terms and recommended Bart syndrome be known as EB with congenital absence of skin.
EB with congenital absence of skin is rare and the exact incidence is unknown. Aplasia cutis congenita is seen in 1–2 per 10,000 births .
EB with congenital absence of skin can be considered a rare form of aplasia cutis congenita, but the proportion of aplasia cutis congenita which can be classified as EB with congenital absence of skin is unknown.
EB with congenital absence of skin is a familial condition with an autosomal dominant pattern of inheritance. Isolated cases have also been recognised .
The aetiology and pathogenesis is complex as the EB may be epidermal (simplex), junctional, or dermal (dystrophic). Bart's original family have dystrophic EB with ultrastructural changes in the anchoring fibrils. The genetic abnormality in that family has been identified in the COL7A1 gene on chromosome 3 which codes for collagen VII [6,7].
The congenital absence of skin is thought to be secondary to the skin fragility and in utero trauma, explaining the symmetrical distribution on the lower legs that may rub together, rather than a failure to form the skin .
EB with congenital absence of skin is a clinical triad.
The areas of absent skin are usually symmetrical and bilateral typically involving the medial or dorsal surface of the distal lower limbs including the tops of the feet. They are sharply demarcated, glistening red areas of ulceration .
In Bart's original family, the phenotype showed some variability with not all affected members showing all features of the triad .
EB with congenital absence of skin may also be associated with other anomalies, such as:
Complications of EB with congenital absence of skin include infection and haemorrhage. Hypothermia, hypoglycaemia, and disorders of fluid balance may complicate large defects [4,8]. Severe mucosal involvement has caused early death .
EB with congenital absence of skin is a clinical diagnosis. Histological evaluation of the skin confirms the diagnosis and categorises the EB type.
Biopsy has revealed a subepidermal blister with an inflammatory infiltrate in the dermis in some cases . In Bart's original series the split in the skin is below the lamina densa on electron microscopy, indicating a dermal dystrophic EB . In other cases, electron microscopy findings of separation of the dermal-epidermal junction and interruption of the basal lamina are similar to that seen in junctional EB . In several cases the split has been above the basement membrane indicating the epidermal simplex type .
The differential diagnoses of EB with congenital absence of skin include:
The management of EB with congenital absence of skin is usually conservative. The aim is to accelerate healing of the affected areas of skin, to prevent infection or other complications, and to reduce the risk of scarring.
Topical antibacterial ointment and wet dressings are the mainstays of treatment . Prophylactic systemic antibiotics are not recommended. Occasionally surgical intervention with a skin graft or flap repair may be needed for a large defect .
In general, the prognosis of EB with congenital absence of skin is good. Most areas of congenital absence of skin heal within weeks or months with no long-term sequelae [7,10]. However when Bart's original family was revisited, many adults continued to develop blisters, and milia and mild scarring were noted at sites of blistering. The sites of the congenital absence of skin had healed with atrophic hairless scars . The nails do not recover.
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