Aplasia cutis congenita

Last Updated: 2019-08-27

Author(s): Anzengruber F., Navarini A.

ICD11: -

Congenital malformation of the skin on the head.

Incidence: 3/100 000.

Diaphragm eye ACC

Non-membrane ACC

Mostly spontaneous, rarely AD or AR.

There are several associated syndromes such as: Adam's Oliver syndrome, pyloric stenosis, Partau syndrome, etc.

Membrane ACC: Mostly circular hair/epidermis-less, rarely bullous, spot on the capillitium.

Non-membranous ACC: Larger and irregular hairless areas on the capillitium, which can extend to the nodes or meninges.

Clinic

No biopsy, especially with non-membrane ACC!

In non-membrane ACC, an MRI is necessary to detect the depth of the pathology. Only then should a cosmetic surgical procedure be planned, if necessary.

Capilitium

Meningitis

Sinus thrombosis 

In most cases, the epidermis is replicated in the course of time. In the case of larger defects, a cosmetic-surgical solution can be sought.

  1. Xu L, Liu KX, Senna MM. A Practical Approach to the Diagnosis and Management of Hair Loss in Children and Adolescents. Front Med (Lausanne). 2017 Jul 24;4:112.
  2. Boisson B, Puel A, Picard C, Casanova JL. Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency. J Clin Immunol. 2017 Jul;37(5):397-412. doi: 10.1007/s10875-017-0400-z.
  3. Perry BM, Maughan CB, Crosby MS, Hadenfeld SD. Aplasia cutis congenita type V: a case report and review of the literature. Int J Dermatol. 2017 Jun;56(6):e118-e121.