Branchio–oculo–facial syndrome with bilateral linear scars of the neck

Abstract

A case of branchio-oculo-facial syndrome with bilateral linear scars affecting both sides of the neck is described. The disease occured in a male patient aged 20 years and presented with facial asymmetry, pre and postauricular pits, lip pits, microphthalmia, broad malformed nose, colobomas and dystrophic right kidney. In addition, there were bilateral linear hypertrophic scars on both sides of the neck. We believe that the latter lesions may represent the end stage of dermal thymus; a rare condition which has been reported so far in only four cases, two of which had branchio-oculo-facial syndrome.

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

“…In patients with BOFS, the first and second branchial arches do not develop properly, leading to abnormal patches of the skin, typically on the neck, or near the ears. [4] Cervical or infra- or supra-auricular skin defects that vary from thin skin or hair patch to erythematous “hemangiomatous” lesions to large weeping erosions. [67] These lesions differ from the punctuate sinus tracts of the branchiootorenal (BOR) syndrome.…”

“…These cutaneous manifestations can vary from Keloid-like and scar-like lesions to eroded, unepithelialized skin. [45] In some cases, this skin defect manifests as hemangiomatous lesions. [67] Very little data exist regarding the histopathological descriptions of cutaneous lesions in BOFS.…”

A Case of Branchio-oculo-facial Syndrome

“…In some cases, the aplastic skin lesions of BOFS, spontaneously regress leaving a scar-like lesion 8 ; in other cases surgical excision and repair are needed 9 . When present, the ectopic dermal thymus may exist on the side with the aplastic lesion; the presence of a normal thymus on chest X-ray should be confirmed before removing the lesion 10 .…”