DiagnosisGenetic Counseling in Epidermolysis Bullosa
Section snippets
Correct diagnosis
The clinical descriptions of EB and the methods of establishing a correct diagnosis are dealt within other articles in this issue (see the articles by Intong and Murrell, Pohla-Gubo and colleagues, and Eady and Dopping-Hepenstal elsewhere in this issue for further exploration of this topic.). It may be several weeks until the correct diagnosis can be made, and genetic counseling may take a back seat to immediate medical needs. Parents are always certain that they are somehow responsible for
Natural history
It is important to be able to give some guidance about the future to the affected individuals. What can they expect? What do we know and don't know? People, including physicians, have an unreasonable expectation that a specific diagnosis allows for specific predictions. But we do not have crystal balls; each person is different, and the spectrum of expression of a disorder is broad. Will this baby succumb to infection? Will this one experience amelioration of signs and symptoms? Will that one
Treatment
Discussions on treatment are a part of the genetic counseling experience. Although a full discussion may not be required, there will always be questions, so the counselor needs to be prepared with information about treatment. In the twenty-first century, families will also ask about gene therapy. The counselor needs to be able to explain where things stand and what the limitations and chances are. The patients may wish to be informed if there are experimental protocols. The counselor should try
Mode of inheritance, recurrence risks, and prenatal diagnosis
The EB syndromes are single-gene disorders inherited in a Mendelian fashion. To all intents and purposes, X-linked inheritance does not play a role in EB. All forms of EB are either autosomal dominant or autosomal recessive conditions.
EBS is almost always autosomal dominant, resulting from heterozygosity for a mutation in 1 of the 2 KRT5 alleles or 1 of the 2 KRT14 alleles. DEB can also be autosomal dominant, usually presenting with localized involvement without pseudoamputation. An individual
Referral
The diagnosis of an EB syndrome is only the beginning. Families need to know where to go for help and be informed about support groups. Sometimes, parents are too overwhelmed to reach out actively but welcome an extended helping hand. I have several veteran parents in my area who have volunteered to be “go-to” people for the new parent. If other specialists are needed, which may be the case for more severe forms of EB, parents need to be helped in finding them. Ancillary services such as social
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Cited by (11)
Genetic diagnosis of epidermolysis bullosa: recommendations from an expert Spanish research group
2018, Actas Dermo-SifiliograficasRetrospective evidence on outcomes and experiences of pregnancy and childbirth in epidermolysis bullosa in Australia and New Zealand
2017, International Journal of Women's DermatologyCitation Excerpt :It would be more difficult, if not impossible, to predict complications in those with no known family history of a recessive form of EB. Genetic counseling and discussion of prenatal diagnostic options are recommended for all EB patients when contemplating pregnancy (Sybert, 2010; Fassihi and McGrath, 2010). Most patients with EB are capable of giving birth without increased risk of pregnancy-related complications.
Ocular manifestations of genetic skin disorders
2016, Clinics in DermatologyCitation Excerpt :In general, EB simplex has the mildest presentation (Figure 5), whereas dystrophic EB has the most severe. Several comprehensive reviews are available discussing the cutaneous findings,27 extracutaneous findings,28,29 diagnosis,30–35 and management36–54 of EB, so only the ocular complications and management are discussed here. Of 3280 patients enrolled in the National Epidermolysis Bullosa Registry, corneal erosions and blisters were the most common ocular manifestations.
Retrospective evidence on outcomes and experiences of pregnancy and childbirth in epidermolysis bullosa in Australia and New Zealand
2015, International Journal of Women's DermatologyCitation Excerpt :It would be more difficult, if not impossible, to predict complications in those with no known family history of a recessive form of EB. Genetic counseling and discussion of prenatal diagnostic options are recommended for all EB patients when contemplating pregnancy (Sybert, 2010; Fassihi and McGrath, 2010). Most patients with EB are capable of giving birth without increased risk of pregnancy-related complications.
Epidermolysis Bullosa
2013, Emery and Rimoin's Principles and Practice of Medical GeneticsRecommendations on pregnancy, childbirth and aftercare in epidermolysis bullosa: a consensus-based guideline*
2022, British Journal of Dermatology