title: [Elastosis perforans serpiginosa with vitamin A deficiency in a child with trisomy 21].
abstract: 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.
authors: Service de Dermatologie, CHU, Tours.
authors: V
authors: V
authors: Jan
authors: J
authors: J
authors: Saugier
authors: B
authors: B
authors: Arbeille
authors: C
authors: C
authors: Maurage
authors: A
authors: A
authors: Callens
authors: G
authors: G
authors: Lorette
mesh_terms: 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*
chemical_list: D007641:Keratolytic Agents; D017255:Acitretin
vernacular_title: Elastome perforant serpigineux avec hypovitaminose A chez une enfant ayant une trisomie 21.