https://orcid.org/0000-0002-2270-2885
-
Views
-
Cite
Cite
A. Durack, S.T. Holden, N.P. Burrows, Congenital bilateral scar‐like lesions on the face, British Journal of Dermatology, Volume 184, Issue 2, 1 February 2021, Page e29, https://doi.org/10.1111/bjd.19328
Close - Share Icon Share
Extract
Funding sources: none.
Conflicts of interest: the authors declare they have no conflicts of interest.
...
A 7‐month‐old boy presented with symmetrical lesions on the cheeks and preauricular region, with dermal thickening and epidermal atrophy (a, b), unchanged since birth. He was otherwise well, and previous investigations for congenital infections were negative. A diagnosis of focal facial dermal dysplasia (FFDD) Type IV (OMIM: # 614974) was made on the clinical findings. Genetic testing confirmed the common CYP26C1 mutation associated with FFDD: c.845_851dup,p.(Gln284fs). FFDD Type IV is an autosomal recessive condition characterized by lesions along embryonic fusion lines at the maxillary and mandibular prominences, resembling cutis aplasia. Other features that have been reported in association with the condition include buccal mucosal polyps,1, 2 cleft lip and palate, and multiple congenital naevi.1
Author Contribution
Alana Durack: Writing‐original draft (equal); Writing‐review & editing (equal). Simon Holden: Writing‐original draft (equal); Writing‐review & editing (equal). Nigel Burrows: Writing‐original draft (equal); Writing‐review & editing (equal).
