Ann Dermatol.  2009 Aug;21(3):288-290. 10.5021/ad.2009.21.3.288.

A Case of Branchio-oculo-facial Syndrome

• Park MY
• Kim YC

• KMID: 2266293
• DOI: http://doi.org/10.5021/ad.2009.21.3.288

Abstract

Branchio-oculo-facial syndrome (BOFS) is a rare, autosomal dominant disorder. It is characterized by distinct craniofacial abnormalities including abnormal location of the ears, aplastic cervical skin lesions, malformed auricles, conductive hearing loss, ocular abnormalities, and cleft lip and palate. Herein, we describe a case of BOFS with persistent aplasia cutis of the neck in a 5-year-old girl.

Keyword

Aplasia cutis; Branchio-oculo-facial syndrome

MeSH Terms

Branchio-Oto-Renal Syndrome
Cleft Lip
Craniofacial Abnormalities
Ear
Hearing Loss, Conductive
Neck
Palate
Preschool Child
Skin

Figure

• 

  Fig. 1 (A, B) The neonate presented with erosive patches on both sides of the neck. The low set ears with posterior rotation are evident as well. (C) Five years later, the lesion still had poorly healed skin with incomplete epithelialization.

• 

  Fig. 2 (A) A skin biopsy from the neck lesion of the neonate showed an ulcer with dermal inflammatory infiltrates and complete absence of appendageal structures. (B) The healing skin demonstrated flattened epidermis with dermal fibrosis. Adnexal structures were not observed (A, B: H&E, ×200).

Reference

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. 11:345–352.

2. Hall BD, deLorimier A, Foster LH. Brief clinical report: a new syndrome of hemangiomatous branchial clefts, lip pseudoclefts, and unusual facial appearance. Am J Med Genet. 1983. 14:135–138.

3. Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, et al. Further delineation of the branchio-oculo-facial syndrome. Am J Med Genet. 1995. 56:42–59.

4. Fujimoto A, Lipson M, Lacro RV, Shinno NW, Boelter WD, Jones KL, et al. New autosomal dominant branchio-oculo-facial syndrome. Am J Med Genet. 1987. 27:943–951.

5. 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. 82:1171–1177.

6. Raveh E, Papsin BC, Forte V. Branchio-oculo-facial syndrome. Int J Pediatr Otorhinolaryngol. 2000. 53:149–156.

7. Trummer T, Muller D, Schulze A, Vogel W, Just W. Branchio-oculo-facial syndrome and branchio-otic/branchio-oto-renal syndromes are distinct entities. J Med Genet. 2002. 39:71–73.

8. 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. 44:674–676.

9. Hiroshi F, Satoru S, Eisuke U, Kunihiro K, Yuhei Y. Bilateral dermal thymus of neck in branchio-oculo-facial syndrome. J Plast Reconstr Aesthet Surg. 2006. 59:1385–1387.

10. Civi I, Kurtay M, Civi S. Bilateral thymus found in association with unilateral cleft lip and palate. Plast Reconstr Surg. 1989. 83:143–147.