Alternative titles; symbols
SNOMEDCT: 67653003; ORPHA: 595356, 79410; DO: 0080988;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 3p21.31 | Epidermolysis bullosa, pretibial | 131850 | Autosomal dominant; Autosomal recessive | 3 | COL7A1 | 120120 |
A number sign (#) is used with this entry because of evidence that pretibial dystrophic epidermolysis bullosa is caused by heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1; 120120) on chromosome 3p21.
Pretibial epidermolysis bullosa is allelic to autosomal dominant (DDEB; 131750) and recessive (RDEB; 226600) dystrophic epidermolysis bullosa.
Pretibial dystrophic epidermolysis bullosa is characterized by recurrent blistering and scarring, mainly in the pretibial area. The lesions often show lichenoid features (Naeyaert et al., 1995).
Jacintho and Portugal (1956) observed pretibial dystrophic epidermolysis bullosa in father and son. Kuske (1946) observed it in males of 3 successive generations.
Garcia-Perez and Carapeto (1975) reported 2 kindreds with pretibial epidermolysis bullosa inherited in an autosomal dominant pattern. Onset occurred between 11 and 24 years of age. One affected individual in 1 family had albopapuloid skin lesions similar to those of the Pasini form of DEB (see 131750).
Lee et al. (1993) reported 19 patients from 13 Taiwanese families with dystrophic epidermolysis bullosa characterized by blisters and scars that primarily involved the pretibial area. Inheritance was autosomal dominant in 10 families, there was sib involvement in 2 families, and 1 family had a sporadic case. Nail dystrophy was noted in all patients, and pruritus was a common feature. Extensive prurigo occurred in 4 patients. Eight patients had skin lesions that exclusively affected the legs, whereas the remaining patients also showed some albopapuloid or hypertrophic scars at sites other than the leg, features seen in the albopapuloid or Cockayne-Touraine types of DEB. Compared with normal controls, the anchoring fibrils were rudimentary and sparser in both lesional and normal skin and were not clearly distinguishable from those observed in other types of DEB. Christiano et al. (1995) provided follow-up on 1 of the families reported by Lee et al. (1993). The clinical phenotype was characterized by pretibial blisters that developed into prurigo-like hyperkeratotic lesions. The lesions were present predominantly on the pretibial areas, sparing the knees and other parts of the skin. Other clinical features included nail dystrophy, albopapuloid skin lesions, and hypertrophic scars without pretibial predominance. There was considerable variability.
Naeyaert et al. (1995) described a large Belgian family with pretibial DEB. The clinical presentation in the proband strongly resembled keratosis lichenoides chronica, which delayed proper diagnosis. Affected members of this family had onset after 10 years of age, and the lesions were strikingly lichenoid.
By linkage analysis of a large Belgian family with pretibial DEB, Naeyaert et al. (1995) found linkage to the COL7A1 gene on chromosome 3p (2-point lod score of 4.45).
In a family of Taiwanese descent in which 12 living individuals in 3 generations had pretibial DEB (Lee et al., 1993), Christiano et al. (1995) identified a heterozygous mutation in the COL7A1 gene (G2623C; 120120.0007).
Betts et al. (1999) described pretibial dystrophic epidermolysis bullosa due apparently to a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing (120120.0021).
In an Italian patient with autosomal recessive pretibial epidermolysis bullosa, Gardella et al. (2002) identified compound heterozygous mutations in the COL7A1 gene (P1699L, 120120.0029; IVSAS2-1G-C, 120120.0030).
Betts, C. M., Posteraro, P., Costa, A. M., Varotti, C., Schubert, M., Bruckner-Tuderman, L., Castiglia, D. Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing. Brit. J. Derm. 141: 833-839, 1999. [PubMed: 10583163] [Full Text: https://doi.org/10.1046/j.1365-2133.1999.03155.x]
Christiano, A. M., Lee, J. Y.-Y., Chen, W. J., LaForgia, S., Uitto, J. Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen. Hum. Molec. Genet. 4: 1579-1583, 1995. [PubMed: 8541842] [Full Text: https://doi.org/10.1093/hmg/4.9.1579]
Garcia-Perez, A., Carapeto, F. J. Pretibial epidermolysis bullosa: report of two families and review of the literature. Dermatologica 150: 122-128, 1975. [PubMed: 1158004] [Full Text: https://doi.org/10.1159/000251413]
Gardella, R., Castiglia, D., Posteraro, P., Bernardini, S., Zoppi, N., Paradisi, M., Tadini, G., Barlati, S., McGrath, J. A., Zambruno, G., Colombi, M. Genotype-phenotype correlation in Italian patients with dystrophic epidermolysis bullosa. J. Invest. Derm. 119: 1456-1462, 2002. [PubMed: 12485454] [Full Text: https://doi.org/10.1046/j.1523-1747.2002.19606.x]
Jacintho, R. V., Portugal, H. Bulose simetrica das pernas (bullosis symmetra cruris): Forma regional de epidermolise bolhosa distrofica. An. Bras. Derm. Sifilogr. 31: 1-7, 1956. [PubMed: 13362911]
Kuske, H. Epidermolysis traumatica, regionar ueber beiden Tibiae zur Atrophie fuhrend, mit dominanter Vererbung. Dermatologica 91: 304-305, 1946.
Lee, J. Y.-Y., Chen, H.-C., Lin, S.-J. Pretibial epidermolysis bullosa: a clinicopathologic study. J. Am. Acad. Derm. 29: 974-981, 1993. [PubMed: 8245264] [Full Text: https://doi.org/10.1016/0190-9622(93)70277-z]
Naeyaert, J. M., Nuytinck, L., De Bie, S., Beele, H., Kint, A., De Paepe, A. Genetic linkage between the collagen type VII gene COLA7A and pretibial epidermolysis bullosa with lichenoid features. J. Invest. Derm. 104: 803-805, 1995. [PubMed: 7738360] [Full Text: https://doi.org/10.1111/1523-1747.ep12606999]