Two siblings, male and female, respectively 10 and 13 years old, affected by a serious form of Epidermolysis bullosa dystrophica recessive (EBDR) are presented. Their clinical picture is characterized by a particularly fast course, so much that the typical alterations of the deep tissues of hands and feet, begun in both siblings at the age of 2, led to aspects of pseudo-mutilation of the extremities in a short time. At the same time severe ocular alterations appeared. The interest of the observation lies in the fact that the alterations of a certainly recessive disease are present in both siblings (sons of non-consanguineous parents), which presupposes a bilateral transmission and a total penetrance. Another point of interest is the presence of a marked photosensitivity in both cases with a particularly precocious and evident pigmentation of the light exposed zones. Furthermore, both show a moderate but significant increase in erythrocytic copro- and protoporphyrins, also present in the mother's and father's red cells. At the current state of our knowledge it is quite difficult to be able to correlate the increase in erythrocytic porphyrins to the marked photosensitivity and to the severity of the lesions.
|Translated title of the contribution||Epidermolysis bullosa dystrophica recessiva with altered metabolism of erythrocytic porphyrins|
|Title of host publication||Bollettino dell Istituto Dermatologico S.Gallicano|
|Number of pages||17|
|Publication status||Published - 1979|
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