Author: Vania Declair Cohen RN, MS, PhD - Clinical Pharmacologist, Dermatology Specialist - São Paulo - SP – Brazil

1. Author: Vania Declair Cohen
RN, MS, PhD - Clinical Pharmacologist, Dermatology
Specialist - São Paulo - SP – Brazil
vdcohen@hotmail.com

2.  Epidermolysis Bullosa (EB) is a rare genetic disease characterized by
the presence of extremely fragile skin and recurrent blister formation
resulting from minor mechanical friction from rubbing, scratching or
trauma.
It is caused by genetic mutations that affect specific chromosomes
that are responsible for the development of proteins that are
responsible for the adherence of the epidermis to the dermis.
 EB can be classified in three subtypes: Epidermolysis Bullosa
Simplex, Epidermolysis Bullosa Junctional and Epidermolysis Bullosa
Dystrophyc.
 There are reports in the literature that inbreeding may be responsible
for this genetic alteration.

3.  Aim: The aim of this study is to ascertain the
incidence of inbreeding between parents or
grandparents of patients with epidermolysis
bullosa in Brazil.

4. Signs and Symptoms: Skin blistering how
widespread and severe it is, depends on the type.
 Internal blistering: throat, oesophagus, stomach,
intestines and urinary tract.
 Thin-appearing skin (atrophic scarring)‫‏‬

5. Signs and Symptoms:
 Hypertrophic scarring
 Deformity or loss of finger and toenails.
 Scalp blistering, scarring alopecia

6. Signs and Symptoms:
 Tiny white skin bumps (milia)‫‏‬
 Dental abnormalities: poorly
formed tooth
 Excessive sweating
 Difficulty swallowing
(dysphagia)‫‏‬
 Hyperkeratosis‫‏‬

7.  Methods: We research the history of the
family of 100 patients from different states
in Brazil in order of identifying the incidence
of inbreeding among family members of
patients.

8. Population 100 patients
Parents with some degree of kinship –
cousins, niece/ nephew, aunt/ uncle,
brothers (same father with different
mothers
27%
Grandparents with some degree of
kinship
56%
Unaware that there is some degree of
inbreeding between the families
17%

9.  Discussion: we observed that eventhough 17% of
the families do not have knowledge of
inbreeding marriages among their ancestors, 97%
of these families belonged to the regions North
and Northeast of Brazil, where this practice is
quite common until the present day. This leads
us to suspect that despite having no history of
inbreeding is quite possible that past generations
got married with each other.

10. Conclusion
 We conclude that inbreeding is a risk factor
for disease onset and meditate and
preventive education should be taken to
accomplish genetic counseling among couples
who have some degree of parentwood to
avoid the increase of children born with this
disease