Kalpana Kalpana (Editor)

Aplasia cutis congenita

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Covid-19
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


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