Epidermolysis bullosa simplex 3, basal, autosomal recessive, with bp230 deficiency Q82.8

Autosomal recessive, mild to moderate, monogenic epidermolysis bullosa simplex-1D (EBS3) with basal cleft formation, is associated with a mutation in the DST (BPAG1) gene (113810) on chromosome 6p12. EBS3 is a very rare (only single families with <20 affected individuals have been described to date) skin disorder characterized by traumatic blistering that usually resolves without scarring or with only mildly atrophic scars. The severity varies; in some patients, the disease occurs locally with preferential involvement of the hands and feet. In others, the blistering may be generalized. In some patients, the condition improves with age.

Blistering occurs mainly on the feet and ankles.

Groves et al (2010) reported on a 38-year-old Kuwaiti man with a lifetime history of trauma-related spontaneous blisters and erosions, particularly affecting his ankles and feet. Evidence included nail dystrophies. Rarely, erosions also affected the face, trunk, and proximal limbs. The blisters and erosions healed without scarring. No mucosal involvement. No milia formation. No alopecia; hair status normal.

Liu et al (2012) reported on a 34-year-old Iranian woman with lifelong skin blistering that worsened in summer and after trauma, such as clothing friction points. The blistering occurred mainly on the ankles, feet, dorsal sides of the hands, and elbows. Discrete scarring. Hair, nails, mucous membranes, or genitalia were not affected. Otherwise, no other abnormalities.

Histology shows cleavage at the level of basal keratinocytes (Hovnanian et al. 1993; Jonkman et al.1996).

EM: Electron microscopic examination of the skin showed cleavage within the basal keratinocytes. Furthermore, discrete abnormalities of hemidesmosomes with poorly formed inner plaques can be seen (Liu et al. (2012).

IF: No evidence of BP-230 at the dermal-epidermal interface and in keratinocytes. Possible decreased immunoreactivity for beta-4 integrin (ITGB4; 147557), PLEC1 (601282), and COL17A1 (113811).

1. Fine JD et al (2008) The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on diagnosis and classification of EB. J Am Acad Derm 58: 931-950.
2. Ganani D et al. (2021) Epidermolysis bullosa simplex due to bi-allelic DST mutations: case series and review of the literature. Pediatr Dermatol 38: 436-441.
3. Groves R W et al. (2010) A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. J Invest Derm 130: 1551-1557.
4. Liu L et al (2012) Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. (Letter) J Invest Derm 132: 742-744.
5. Takeichi Tet al. (2015) Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. Br J Dermatol 172:527-531.
6. Wen D et al (2021) Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1). Clin Exp Dermatol doi: 10.1111/ced.14917.