Specialty medical genetics OMIM 107600 eMedicine article/1110134 | ICD-10 Q84.8 (ILDS Q84.810) DiseasesDB 32731 | |
Aplasia cutis congenita (also known as "Cutis aplasia," "Congenital absence of skin," and "Congenital scars") 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.
It can be associated with Johanson-Blizzard syndrome, Adams-Oliver syndrome, trisomy 13, and Wolf-Hirschhorn syndrome. It can also seen with exposure to methimazole and carbimazole in utero. This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19.
Genetics
This condition has been linked to mutations in the ribosomal GTPase BMS1 gene.
References
Aplasia cutis congenita Wikipedia(Text) CC BY-SA