Aplasia Cutis Congenita Pathomechanisms Reveal Key Regulators of Skin and Skin Appendage Morphogenesis

Aplasia cutis congenita (ACC) manifests at birth as a defect of the scalp skin. New findings answer 2 longstanding questions: why ACC forms and why it affects mainly the midline scalp skin. Dominant-negative mutations in the genes KCTD1 or KCTD15 cause ACC owing to loss of function of KCTD1/KCTD15 c...

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Bibliographic Details
Published inJournal of investigative dermatology Vol. 144; no. 11; pp. 2399 - 2405
Main Author Marneros, Alexander G.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.11.2024
Subjects
Animals
Cranial neural crest cells
Cranial sutures
Ectodermal Dysplasia - genetics
Ectodermal Dysplasia - pathology
Humans
Keratinocyte growth factors
Keratinocytes
Mesenchymal–epithelial interactions
Mice
Morphogenesis - genetics
Mutation
Neural Crest - embryology
Neural Crest - pathology
Scalp - abnormalities
Scalp - pathology
Skin - pathology
Wound
ACC
BTB
scRNA-seq
DCT
Mesenchymal–epithelial interactions
Cranial sutures
Keratinocyte growth factors
Wound
SEN
Cranial neural crest cells
NCC
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Summary:Aplasia cutis congenita (ACC) manifests at birth as a defect of the scalp skin. New findings answer 2 longstanding questions: why ACC forms and why it affects mainly the midline scalp skin. Dominant-negative mutations in the genes KCTD1 or KCTD15 cause ACC owing to loss of function of KCTD1/KCTD15 complexes in cranial neural crest cells (NCCs), which normally form midline cranial suture mesenchymal cells that express keratinocyte growth factors. Loss of KCTD1/KCTD15 function in NCCs impairs the formation of normal midline cranial sutures and, consequently, the overlying skin, resulting in ACC. Moreover, KCTD1/KCTD15 complexes in keratinocytes regulate skin appendage morphogenesis.
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ISSN:0022-202X
1523-1747
1523-1747
DOI:10.1016/j.jid.2024.05.014