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Aplasia cutis congenita
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Aplasia cutis congenita

Aplasia cutis congenita (also known as "Cutis aplasia," "Congenital absence of skin," and "Congenital scars"[1]) is the most common congenital cicatricial alopecia, and is a congenital focal absence of epidermis with or without evidence of other layers of the skin.[2][3]

It can be associated with Johanson-Blizzard syndrome, Adams-Oliver syndrome, trisomy 13, and Wolf-Hirschhorn syndrome.[4] It is also seen with exposure to Methimazole and/or Carbimazole in utero. This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19. [5]

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References

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fr:Aplasia cutis congenita it:Aplasia congenita della cute






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