Epidermolysis bullosa with congenital abscence of the skin and deformity of nails Q82.2

Last updated on: 13.01.2022

Dieser Artikel auf Deutsch

This section has been translated automatically.

Rare, congenital, clinically heterogeneous, often severe, autosomal-dominant inherited dystrophic epidermolysis bullosa, characterized by a congenital absence of skin (CAS = cutis aplasia, see below aplasia cutis congenita), especially on the lower extremities. Furthermore, blistering of the skin and mucous membranes occurs. Also congenital is the absence or deformation of the fingers and/or toenails.

This section has been translated automatically.

Congenital extensive skin loss (CAS) is most commonly associated with recessive dystrophic EB. Differentially, however, other EB subtypes may also present under this phenoytp (Martinez-Moreno A et al 2020). In both autosomal recessive epidermolysis bullosa dystrophica with congenital absence of skin and nail dystrophy (41.4% of cases) and autosomal dominant dystrophic EB (22.8%), mutations are present in the COL7A1 gene (Gruis et al. 1992; Christiano et al. 1996).

This section has been translated automatically.

In a retrospective review based on 55 publications with 96 patients, epidermolysis always affected the lower extremities, and in 17%, it also affected the upper extremities, trunk, or head (Martinez-Moreno A et al. 2020).

Clinical features
This section has been translated automatically.

Chancellor et al (1992) described a family in which individuals had four generations of epidermolysis bullosa simplex with congenital localized absence of skin (CLAS). At birth, there was a large erosive area on the right leg and a smaller area on the back of the left wrist and hand. The CLAS areas healed completely by 3 months of age with minimal scarring. The nails were normal at birth.

Zelickson et al (1995) reported affected individuals with persistence of blistering into adulthood. Healing of the CAS areas occurred with mild atrophic scarring and milia formation at the sites of blistering.

Regarding extracutaneous dysplasias, pyloric atresia and ear malformations were the most common.

Other methods of examination
This section has been translated automatically.

Ultrastructural analysis of affected skin shows poorly formed anchoring fibrils and clefts below the lamina densa. Immunohistochemical staining localized type IV collagen on the roof of the blister skin.

This section has been translated automatically.

Staining of type VII collagen showed normal distribution (!) in non-blistered skin.

This section has been translated automatically.

Prognosis varied depending on the subtype of EB and the presence of additional comorbidities. Aplasia cutis heals in a period of 2 weeks to 6 months. Mortality in autosomal recessive dystrophic EB was 6.8%. In junctional EB with pyloric atresia and CAS, 50% of patients died in the first months of life.

This section has been translated automatically.

  1. Alfayez Y et al (2017) A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome Case Rep Dermatol 9:112-118.
  2. Bart BJ et al (1966) Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome. Arch Dermatol 93:296-304.
  3. Bart BJ (1971) Congenital localized absence of skin, blistering and nail abnormalities, a new syndrome. Birth Defects Orig Art Ser VII: 118-120.
  4. Beard BJ (1970) Epidermolysis bullosa and congenital localized absence of skin. Arch Derm 101: 78-81.
  5. Christiano AM et al (1996) Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene. J Invest Derm 106: 778-780.
  6. Gruis NA et al (1992) Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds. Invest Der 99: 528-530.
  7. Joensen HD (1973) Epidermolysis bullosa dystrophica dominans in two families in the Faroe Islands. Acta Derm Venerol 53: 53-60.
  8. Kanzler MH et al (1992) Congenital localized absence of the skin as a manifestation of epidermolysis bullosa. Arch Derm 128: 1087-1090.
  9. Martinez-Moreno A et al (2020) Epidermolysis bullosa with congenital absence of skin: review of the literature. Ped Dermatol 37: 821-826.
  10. Skoven I et al (1979) Congenital localized skin defect and epidermolysis bullosa hereditaria letalis. Acta Derm Venerol 59: 533-537.
  11. Zelickson B et al (1995) Bart's syndrome: ultrastructure and genetic linkage. Arch Derm 131: 663-668.


Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Last updated on: 13.01.2022