1.
Pediatr Dermatol
; 41(2): 344-345, 2024.
Article
in English
| MEDLINE
| ID: mdl-38092051
ABSTRACT
Capillary malformation-arteriovenous malformation is a rare autosomal dominant disorder associated with EPHB4 loss-of-function mutations. We report the unique presentation of a 6-year-old girl with multiple capillary malformations in a unilateral segmental distribution affecting the right hemiface, right upper chest, and right arm associated with overgrowth. Targeted next-generation sequencing on a tissue sample revealed a novel heterozygotic variant in the EPHB4 gene (NM_004444.5 (EPHB4): c.715T>A, p.[Cys239Ser]). This case highlights a distinct presentation of CM-AVM type 2 and showcases a new variant in EPHB4 not previously reported in the literature.
Subject(s)
Arteriovenous Malformations , Capillaries/abnormalities , Port-Wine Stain , Female , Humans , Child , p120 GTPase Activating Protein/genetics , Port-Wine Stain/genetics , Arteriovenous Malformations/diagnosis , Arteriovenous Malformations/genetics , Mutation
2.
Actas dermo-sifiliogr. (Ed. impr.)
; 114(10): 921-922, nov.-dec. 2023. ilus
Article
in English
| IBECS
| ID: ibc-227145
Subject(s)
Humans , Male , Child , Alopecia Areata/diagnosis , Lip/abnormalities , Cleft Palate , Syndrome
3.
Actas dermo-sifiliogr. (Ed. impr.)
; 114(10): t921-t922, nov.-dec. 2023.
Article
in Spanish
| IBECS
| ID: ibc-227151
Subject(s)
Humans , Male , Child , Alopecia Areata/diagnosis , Lip/abnormalities , Cleft Palate , Syndrome
4.
Actas Dermosifiliogr
; 114(10): 921-922, 2023.
Article
in English, Spanish
| MEDLINE
| ID: mdl-36740176