Aplasia Cutis

Epidemiologia
  • Usually isolated, non-syndromic finding at vertex scalp (where scalp closes in-utero)
 
Clinical presentation
  • Isolated forms
    • Vertex skin aplasia
      • Membranous Aplasia Cutis or Hair Collar Sign (dark tuff of hair surrounding) → evaluate for underlying CNS anomaly (ectopic brain tissue, dysrrafism)
    • Localized aplasia of a limb or trunk
      • Rare, possible association with a papyraceous fetus
    • Isolated focal facial aplasia
      • One or more aplastic lesions, unilateral or bilaterl
  • Syndromic forms:
    • Adams-Oliver
      • Median aplasia of the vertex + cutis marmorata telangiectatic congenita + hypoplasia of the extremities
    • Setleis syndrome: bitemporal aplasia cutis
    • Forms associated with epidermolysis bullosa
      • Congenital absence of skin (Bart syndrome): Epidermolysis bullosa
    • Forms associated with various malformative conditions, particularly contiguous cerebromeningeal and skeletal malformations (dysraphism)
    • Aplasia and sebaceous/epidermal hamartoma: SCALP syndrome, combining sebaceous hamartoma, CNS malformation, corneal dermoid cyst, nevus)
    • Association with genotypic disorders: trisomy 13, deletion of the short arm of chromosome 4, translocation 12q-1q, tetrasomy 12p (Pallister-Killian syndrome), Johanson-Blizzard syndrome, Rapp-Hodgkin syndrome, AEC syndrome, Setleis syndrome (syndromic bitemporal aplasia)
    • Forms linked to the use of teratogenic substances, in particular synthetic
      antithyroid drugs (carbimazole, methimazole) and valproic acid