Isotretinoin therapy for antibiotic-refractory acne in Apert's syndrome

Abstract

Apert's syndrome is a congenital disorder characterized by the premature fusion of the cranial sutures and early epiphyseal closure. Severe pustular acne is a common feature. We report a case that failed to respond to conventional antibiotic treatment but resolved following isotretinoin therapy. The patient's permanent tracheostomy proved a management challenge during isotretinoin treatment. The role of androgen-sensitivity is discussed in relation to the skin and bones.

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.…”

“…[18][19][20][21][22][23][24][25][26][27][28][29][30] Patients with Apert syndrome often present oily skin. The acne clinically exhibits comedones, papules, pustules, furunculoid cysts and scars as seen in conglobate acne (Fig.…”

“…22 Plasma androgen levels and AR staining of sebaceous glands in Apert syndrome showed no difference in AR expression between patients and controls. 27,28,30 FGFR2 signaling in acne Figure 1. (A) Apert syndrome with early-onset severe nodulocystic acne extending to the forearms and thighs in an 11-year-old boy.…”

“…(A) Apert syndrome with early-onset severe nodulocystic acne extending to the forearms and thighs in an 11-year-old boy. 28 Two thirds of patients with Apert syndrome exhibit the Ser252Trp FGFR2 mutation, one third of patients the Pro253Arg FGFR2 mutation. (B) Unilateral segmental acneiform nevus in a 15-year old boy with a genetic mosaicism expressing the heterozygous mutation of Ser252Trp of FGFR2 in the affected skin areas following the lines of Blaschko.…”

Successful Isotretinoin Treatment of Acne in a Patient with Apert Syndrome

“…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).…”