[Elastosis perforans serpiginosa with vitamin A deficiency in a child with trisomy 21].
BACKGROUND
Elastosis perforans serpiginosa frequently occurs in trisomy 21. Usually no cause is found. We report a case in which vitamin deficiency may have contributed to the development of skin lesions.


METHODS
A 11-year-old girl with trisomy 21 developed papulokeratosic eruptions with a linear serpiginous distribution, predominantly involving the lower limbs. On ultrastructure examination, numerous elastic fibers penetrated the epiderma and the baseline membrane had disappeared. The patient also had a totally patent atrioventricular canal with hypoplasia of the left ventricle and cardiac liver. Serum vitamin A level was low (0.56 mumol/l, normal > 1.55). Acitretine was prescribed at the dose of 0.5 mg/kg/day but had to be stopped 2 months later due to elevated liver enzyme levels despite a clear clinical improvement.


CONCLUSIONS
This association between elastosis perforans serpiginosa and vitamin A deficiency, observed here in a child with trisomy 21, has never been reported by others. Vitamin A deficiency might aggravate the skin lesions. In our case, there was probably a relationship between the vitamin A deficiency and the cardiogenic liver disease. The keratoregulatory effect of vitamin A on elastic tissue is less well known. Treatment with retinoids provided clinical improvement but had to be stopped due to hepatotoxicity. Parenteral vitamin A would be an interesting alternative but the risk of side effects would theoretically be greater than with oral retinoids.
Jan
V
V
Service de Dermatologie, CHU, Tours.
Saugier
J
J
Arbeille
B
B
Maurage
C
C
Callens
A
A
Lorette
G
G
D017255:Acitretin / Q000009:adverse effects / Q000627:therapeutic use; D002648:Child; D004314:Down Syndrome / Q000150:complications*; D004547:Elastic Tissue; D005260:Female; D006801:Humans; D007641:Keratolytic Agents / Q000009:adverse effects / Q000627:therapeutic use; D007868:Leg Dermatoses / Q000209:etiology* / Q000473:pathology; D014802:Vitamin A Deficiency / Q000209:etiology*
D007641:Keratolytic Agents; D017255:Acitretin
Elastome perforant serpigineux avec hypovitaminose A chez une enfant ayant une trisomie 21.