The recessive forms of epidermolysis bullosa (EB) are common in Scandinavia, especially in the northern parts of Norway and Sweden. The daily care of EB in Scandinavia is organized around the patient via settings at the local hospital or health service. However, the diagnosis of EB and providing correct patient/family information usually require a specialized service. Specialized EB care in Scandinavia is mainly provided by dermatologists, pediatricians, and dentists working together in a team. The increasing number of EB families with foreign ethnic backgrounds and language problems is a challenge to the health service, especially in Sweden, and demands increased facilities. Also, the high expectations by parents of children with junctional EB and recessive dystrophic EB about new, revolutionizing therapies are challenges that can only be met by international collaboration and more research in specialized centers for EB. A close collaboration with patient organizations and various charity organizations will be very helpful in this respect.
A short history
One of the first papers published on epidermolysis bullosa (EB) in Scandinavia was that of Gillis Herlitz (1902–1982) who, when working as a pediatrician at Uppsala University Hospital in the early 1930s, described a lethal form of the disease now known as junctional EB (JEB) of the Herlitz type.
In the beginning of the 1960s, the Norwegian geneticist Tobias Gedde-Dahl (1938–2006) started his pioneering work on EB in Norway, whereby he personally visited and documented virtually all patients with EB, as well as described new forms of the disease, such as epidermolysis bullosa simplex (EBS)–Ogna.
Dermatologist Matti Kero, in his thesis work, documented during the period between 1971 and 1980 the clinical and ultrastructural features of 121 patients affected by recessively inherited EB living in Finland. Research group of Professor Jouni Uitto, originally from Finland, was the first to discover the genetic linkage between the type VII collagen gene and dystrophic EB (DEB) in a large Finnish pedigree in 4 generations.
Epidemiology
The recessive forms of EB are relatively common in Scandinavia, especially in the northern parts of Norway and Sweden where a founder effect for LAMB3 gene mutation (R635X) causing JEB-Herlitz has been noted. Table 1 shows very approximate figures for the number of Scandinavian families affected by EB reported during a period of 40 years. It can be seen that the prevalence of JEB and recessive DEB (RDEB) is highest in Norway and Sweden, whereas the other EB subtypes seem to be more evenly distributed among the Nordic countries. The figures for the mild forms of EBS and dominant DEB are probably grossly underreported in this type of compilation from the literature. In a more recent questionnaire sent to all Swedish dermatologists and pediatricians, 39 patients with EBS, 5 with JEB, and 28 with DEB were identified (Wittbolt and Vahlquist, unpublished data, 2005). Only 6 of the DEB cases were of the recessive type; however a few of these patients died prematurely. The highest death rate is no doubt among patients with JEB-Herlitz of whom practically all babies die within 1 to 2 years, thus heavily reducing the prevalence of this EB subtype. Historically, about 1 child per year with JEB-Herlitz was born in Sweden. However the incidence of this subtype and RDEB is increasing, particularly in Sweden receiving many immigrants from countries where cousin marriage is common. This also introduces new types of mutations.
| Population Size (Millions) | (Total) | EBS | JEB | DDEB | RDEB | |
|---|---|---|---|---|---|---|
| Sweden | 9 | (93) | 13 | 53 | 9 | 18 |
| Norway | 5 | (80) | 30 | 27 | 13 | 10 |
| Finland | 5 | (37) | 24 | 3 | 8 | 2 |
| Denmark | 5 | (19) | 9 | 4 | 3 | 3 |
| Total | 24 | (229) | 76 | 87 | 33 | 33 |
Epidemiology
The recessive forms of EB are relatively common in Scandinavia, especially in the northern parts of Norway and Sweden where a founder effect for LAMB3 gene mutation (R635X) causing JEB-Herlitz has been noted. Table 1 shows very approximate figures for the number of Scandinavian families affected by EB reported during a period of 40 years. It can be seen that the prevalence of JEB and recessive DEB (RDEB) is highest in Norway and Sweden, whereas the other EB subtypes seem to be more evenly distributed among the Nordic countries. The figures for the mild forms of EBS and dominant DEB are probably grossly underreported in this type of compilation from the literature. In a more recent questionnaire sent to all Swedish dermatologists and pediatricians, 39 patients with EBS, 5 with JEB, and 28 with DEB were identified (Wittbolt and Vahlquist, unpublished data, 2005). Only 6 of the DEB cases were of the recessive type; however a few of these patients died prematurely. The highest death rate is no doubt among patients with JEB-Herlitz of whom practically all babies die within 1 to 2 years, thus heavily reducing the prevalence of this EB subtype. Historically, about 1 child per year with JEB-Herlitz was born in Sweden. However the incidence of this subtype and RDEB is increasing, particularly in Sweden receiving many immigrants from countries where cousin marriage is common. This also introduces new types of mutations.
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