What are group 2 aplasia cutis congenita (ACC) malformations?

Updated: Jul 31, 2018
  • Author: Joy Wan, MD, MSCE; Chief Editor: William D James, MD  more...
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Answer

This is scalp aplasia cutis congenita with limb anomalies. [12] Adams-Oliver syndrome [13, 14, 15, 16, 17] is a distinct disorder in which distal limb reduction abnormalities are found in association with solitary midline scalp defects. Adams-Oliver syndrome exhibits both autosomal dominant and autosomal recessive patterns of inheritance. In recent years, mutations in EOGT and DOCK6 have been identified as causes for autosomal recessive Adams-Oliver syndrome, and mutations in DLL4,ARHGAP31, RBPJ, and NOTCH1 have been observed in autosomal dominant forms of the syndrome. [18, 19, 20, 21, 22, 23] In this group of aplasia cutis congenita, the scalp lesions tend to be large. The most common limb malformation is hypoplastic or absent distal phalanges, but the severity of limb anomalies ranges from minor defects such as an absent nail or broad fingertip to more severe involvement. Limb anomalies are usually asymmetric and more commonly involve the lower extremities. [24] Other anomalies may include cutis marmorata telangiectatica congenita, hemangiomas, cranial arteriovenous malformation, congenital heart defects, skin tags, supernumerary nipples, and woolly hair.


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