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Atlas of Genetic Diagnosis and Counseling pp 135–139Cite as

Aplasia Cutis Congenita

  • Reference work entry

Aplasia cutis congenita (ACC) is a clinical description of the absence of the skin at birth, first described by Cordon in 1767. It is a heterogeneous group of disorders characterized by absence of epidermis, dermis, and, sometimes, subcutaneous tissue, muscle, or bone on one or more parts of the body. The incidence is estimated to be 1 in 10,000 births.

Synonyms and Related Disorders

Aplasia cutis congenita associated with epidermolysis bullosa (simplex, junctional, dystrophic); Congenital scalp defect; Congenital skull and scalp defect

Genetics/Basic Defects

  1. 1.

    Etiological theories

    1. a.

      Amniogenic theory (Frieden 1986)

      1. i.

        Adhesion of the amniotic membrane to the fetal skin might tear off, leaving absent areas of skin

      2. ii.

        Not supported by the study of placentas because most placentas are normal

    2. b.

      Vascular theory: assumes thromboplastic material from a fetus papyraceus (mummified dead fetus) as the causes of skin damage

    3. c.

      Placental abnormalities

      ...

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References

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Editor information

Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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(2012). Aplasia Cutis Congenita. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_15

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