Work

Bilateral second branchial cleft fistulae coexisting with bilateral cleft lip and bilateral supra‐auricular fissures

Year: 2023

Type: article

Abstract: A 4-month-old girl was referred to the dermatology department for bilateral branchial cleft fistula. She was a preterm baby. There was no history of consanguinity. A physical examination found a bilateral cleft lip (Figure 1), and a bilateral second branchial cleft fistula with skin discharge. Further examination revealed bilateral aplasia of the overlying skin with a hemangioumatous aspect (Figure 2). Low set ears with posterior rotation were present. There was also bilateral supra-auricular fissures (Figure 2). Ophtalmological workup revealed strabismus and nasolacrimal duct stenosis with recurrent dacrocystitis. Objective audiometry showed mixed bilateral hearing loss. Because branchio-oculo-facial syndrome (BOFS) was diagnosed, abdominal ultrasonography was indicated but it did not show abnormalities. Since there were no similar cases in her family, genetic testing was not necessary. Second branchial cleft anomalies, which arise from the incomplete obliteration of the branchial clefts during embryogenesis, account for approximately 69%–95% of all branchial malformations while bilateral lesions represent only 2%–3% of cases.1 Among the last ones, fistulae are rare1 as they are described in only 7.5% of cases.2 BOFS is rare, variable and remains unknown to dermatologists in spite of distinctive cutaneous features. Herein, we point out another case. It is usually an autosomal dominant disorder but can be sporadic as in our case. The symptoms of which include branchial arch anomalies with abnormal overlying skin, ocular findings, and facial anomalies.3 If all these BOFS features are present, the diagnosis can be carried out. Otherwise, two of these criteria plus either an affected first-degree relative or dermal ectopic thymus made the diagnosis.4 A differential diagnosis includes branchio-otorenal (BOR) syndrome. Both the BOR and BOFS can present with hearing loss, renal anomalies, and nasolacrimal stenosis. Facial abnormalities and skin lesions are characteristics of BOFS.3, 4 Branchial arch anomalies may present with sinus tracts or aplastic skin in the cervical area, supra-auricular sinuses or branchial clefts with hemangiomatous scarred skin extending along the sternocleidomastoid muscle like in our patient.3 The opposite skin may be thin or present hair patches, or linear, and non-healing erosions.4 The face may manifest dolichocephaly, a malformed, asymmetrical nose with a broad bridge and flattened lip, low set ears with posterior rotation, cleft palate and/or cleft lip. The last three findings were present in our case.4 Microphthalmia or anophthalmia, strabismus, nasolacrimal duct stenosis or atresia with recurrent dacrocystitis and cataracts represent ocular abnormalities in BOFS.3 Our patient underwent surgical treatment under general anesthesia. We started with repairing the bilateral cleft lip. Excision for second branchial cleft fistulae is planned few months later. A speech therapy may be needed after the age of 18 months. To conclude, we report an original case of BOFS, which showed dermatological features, including branchial arch anomalies with abnormal overlying skin and facial anomalies which made this syndrome suspicious. Ocular findings complete the third diagnosis criterion where dematologists, ophlalmologists and pediatricians should be aware of the BOFS to make the diagnosis as early as possible and multi-disciplinary management is crucial. Rekik Mariem, Sellami Khadija, Hableni Hanene and Baklouti Massara performed conceptualization, validation, visualization, writing—original draft preparation, and writing—review and editing. Rekik Mariem and Sellami Khadija performed data curation, formal analysis, investigation, visualization, and writing—original draft preparation. Rekik Mariem and Sellami Khadija involved in conceptualization, validation, visualization, writing—original draft preparation, and writing—review and editing. All authors read and approved the final version of the article. None. Any photos in this manuscript are from the parents of the patient who provided their consent. Written informed consent was obtained from the parent of the patient to publish this report in accordance with the journal's patient consent policy. We accept the fact that this journal publish our case.

Source: Journal of Cosmetic Dermatology

DOI: 10.1111/jocd.15619