Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2018 Nov 27:7:145.
doi: 10.4103/abr.abr_31_18. eCollection 2018.

A Rare Case of Branchio-oculo-facial Syndrome: Clinical and Histopathological Features

Fariba Iraji  1 , Masoom Shahbazi  1 , Bahareh Abtahi-Naeini  1 , Ali Asilian  1 , Zabihollah Shahmoradi  1 , Anis Bostakian  1 , Parvin Rajabi  2 , Samira Kazemipour  1
Affiliations
Case Reports

A Rare Case of Branchio-oculo-facial Syndrome: Clinical and Histopathological Features

Fariba Iraji et al. Adv Biomed Res. .

Abstract

Branchio-oculo-facial syndrome (BOFS), a rare, multiple-malformation congenital disorder, is characterized by facial anomalies, including associated cutaneous and ocular abnormalities. We report a new case of BOFS in an 11-year-old male child with bilateral cervical erythematous scaly linear plaque associated with scar formation and erosion. Although BOFS is very rare, physicians, especially dermatologists, should be aware of the cutaneous and histopathological features of BOFS due to impacts of the associated anomalies.

Keywords: Branchial arch; branchio-oculo-facial; ocular; renal.

PubMed Disclaimer

Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Clinical feature of branchio-oculo-facial syndrome. Microphthalmia and repaired bilateral lip cleft was seen
Figure 2
Figure 2
Erythematous linear lesion with adherent scale on lateral side of the neck. Note the hearing aids, reflecting severe otologic problem and hearing loss
Figure 3
Figure 3
Hyperpigmented scar-like lesions on the anterior sides of the neck
Figure 4
Figure 4
Section showing the replacement of normal squamous epithelium by ciliated respiratory epithelium. Arrow indicates ciliated epithelium (H and E, ×100)
Figure 5
Figure 5
Section showing the replacement of normal squamous epithelium by ciliated respiratory epithelium (H and E, ×100). The figure indicates aggregation of lymphoid in the upper dermis beneath the ciliated epithelium
See this image and copyright information in PMC

References

    1. Lee WK, Root AW, Fenske N. Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: A new syndrome with dominant transmission. Am J Med Genet. 1982;11:345–52. - PubMed
    1. Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, et al. TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet. 2008;82:1171–7. - PMC - PubMed
    1. Misceo D, Bjørgo K, Ormerod E, Ringen Ø, Rocchi M, van der Hagen CB, et al. A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient. Am J Med Genet A. 2008;146A:3230–3. - PubMed
    1. El Darouti MA, Marzouk SA, Azzam OA, Nada HR, Sobhi RM, El Nabarawi I. Branchio-oculo-facial syndrome with bilateral linear scars of the neck. Int J Dermatol. 2005;44:674–6. - PubMed
    1. Vantrappen G, Feenstra L, Fryns JP. Conductive hearing loss and multiple pre- and supra-auricular skin defects: A variant example of the branchio-oculo-facial syndrome. Genet Couns. 2000;11:273–6. - PubMed

Publication types