Isotretinoin Treatment of Acne in a Patient with Apert Syndrome

Abstract

Apert syndrome is an autosomal dominant disease caused by mutations in fibroblast growth factor receptor (FGFR-2) and characterized by premature fusion of the cranial sutures and early epiphyseal closure. The development of widespread, severe, pustular acne around puberty is a characteristic feature in these patients. The FGFR-2 mutation of Apert syndrome has been described in localized nevoid acne lesions, which have been attributed to somatic mosaicism. Isotretinoin has been reported to be useful in controlling this acne. We report the successful treatment of acne with isotretinoin in a teenager with Apert syndrome and review the pathophysiology of acne in this syndrome.

Nonclinical and human pharmacology of the potent and selective topical retinoic acid receptor-γ agonist trifarotene

“…Naturally occurring gain‐of‐function germline mutations of the FGFR2 gene have been demonstrated to cause Apert syndrome, characterized by skin manifestations including severe acne and oily skin . Of note, a case report with oral isotretinoin describes the resolution of acneiform lesions in Apert syndrome …”

Diseases of cutaneous appendages

“…143 It is due to a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene at 10q26. 146 Acneiform lesions are also seen in pyoderma faciale, although in this condition there are cysts and draining sinuses but no comedones. 145 Oral isotretinoin has been used to treat the acne associated with Apert's syndrome.…”

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.…”