Acne in Apert's syndrome: treatment with isotretinoin

Abstract

Apert's syndrome is an uncommon disease characterized by synostosis of extremities, vertebrae and skull. A clear association between Apert's syndrome and acne vulgaris with resistance to usual acne treatments has been described. A case of Apert's syndrome treated with oral isotretinoin with good results is reported and the pathogenic mechanisms of acne in this syndrome are discussed.

Role of FGFR2-signaling in the pathogenesis of acne

“…Whereas tetracyclines were ineffective, oral isotretinoin (13cis-retinoic acid) has been shown to resolve the acneiform lesions in both, Apert syndrome and unilateral segmental acneiform nevus. 24,28,30,67,[74][75][76][77] In order to understand the pathogenetic role of disturbed FGF-FGFR2-signaling in Apert syndrome and acneiform nevus and its role in the pathogenesis of acne vulgaris, it has to be kept in mind, that the acne in Apert syndrome, more inflammatory lesions in acneifom nevus and acne vulgaris appear with the onset of puberty pointing to androgen dependence.…”

Successful Isotretinoin Treatment of Acne in a Patient with Apert Syndrome

“…Formerly., acne in these patients was perceived as a congenital abnormality of pilosebaceous units and not as true acne vulgaris (6). Later it was interpreted as a peculiar presentation of acne vulgaris (7,8). Studies using staining of the basal cells of sebaceous glands (9) and morphological, ultrastructural and immunohistochemical techniques (7) support the view that acne in Apert syndrome results from the increased sensitivity of sebaceous glands to normal levels of circulating androgens.…”

“…Studies using staining of the basal cells of sebaceous glands (9) and morphological, ultrastructural and immunohistochemical techniques (7) support the view that acne in Apert syndrome results from the increased sensitivity of sebaceous glands to normal levels of circulating androgens. A hyperresponse to androgens, perhaps mediated by keratinocyte growth factor receptors, may also explain the premature epiphyseal fusion in Apert syndrome (8,10).…”

Apert syndrome

“…Acneiform lesions in patients with Apert syndrome tend to be unusually resistant to pharmacologic therapy. Evidence from several case reports suggests that oral isotretinoin may be most beneficial 15–17 …”

“…Evidence from several case reports suggests that oral isotretinoin may be most beneficial. [15][16][17] Recently, resolution of acne following oral contraceptive therapy has been reported in a female patient with Apert syndrome. 18…”