1.Epidermolysis Bullosa Simplex in a 13-year-old Filipina
Elisabeth Ryan ; Roy Lawrence S. Paredes ; Clarisse G. Mendoza
Journal of the Philippine Dermatological Society 2019;28(2):75-79
Introduction:
Epidermolysis Bullosa (EB) is a rare genodermatosis characterized by fragility of the skin and mucous
membranes, manifested by blistering with little or no trauma. There are three subtypes: EB Simplex, Junctional EB,
and Dystrophic EB. Each type of EB has its own specific genetic defect. We report a case of a 13-year-old girl who
presented with multiple tense blisters and eroded plaques since birth on the entire body.
Case summary:
This is a 13-year-old-girl who presented with solitary tense blister on her right thigh three days
after birth, which gradually affected the scalp, trunk, and upper and lower extremities, particularly on the trauma
prone areas. There was nail dystrophy and multiple brownish dental pits at three years of age. A 4 mm lesional skin
punch biopsy showed subepidermal blisters containing fibrin, lymphocytes and few red blood cells. PAS showed
basement membrane zone beneath the blister, compatible with EB. Immunofluorescence mapping showed
decreased immunofluorescence (+1) on keratin 5/6, (+2) on keratin 14, and absence of immunofluorescence on
alpha 6 / beta 4 integrins. Final diagnosis is EB Simplex.
Conclusion
Early detection is important in managing this case, to detect systemic involvement and provide
palliative care. Genetic counseling is recommended for prospective parents who have a family history of any form
of epidermolysis bullosa. The prognosis of Inherited EB is very variable and the mortality is usually due to
complications of systemic involvement. A multidisciplinary approach in the supportive management of this case is
necessary as there is still no cure for this condition.
Fluorescent Antibody Technique
;
Integrins