Pilosebaceous abnormalities in Apert's syndrome

Solomon, L. M.

doi:10.1001/archderm.102.4.381

Cited by 23 publications

(24 citation statements)

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“…[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.…”

Section: Introductionmentioning

confidence: 99%

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Role of FGFR2-signaling in the pathogenesis of acne

Melnik

2009

Dermato-Endocrinology

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It is the purpose of this review to extend our understanding of the fibroblast growth factor (FGF) receptor-2b-signaling network in the pathogenesis of acne. A new concept of the role of FGFR2b-signaling in dermal-epithelial interaction for skin appendage formation, pilosebaceous follicle homeostasis, comedogenesis, sebaceous gland proliferation and lipogenesis is presented. The FGFR2-gain-of-function mutations in Apert syndrome and unilateral acneiform nevus are most helpful model diseases pointing the way to androgen-dependent dermalepithelial FGFR2-signaling in acne. Androgen-mediated upregulation of FGFR2b-signaling in acne-prone skin appears to be involved in the pathogenesis of acne vulgaris. In organotypic skin cultures, keratinocyte-derived interleukin-1α stimulated fibroblasts to secrete FGF7 which stimulated FGFR2b-mediated keratinocyte proliferation. Postnatal deletion of FGFR2b in mice resulted in severe sebaceous gland atrophy. The importance of FGFR2b in sebaceous gland physiology is further supported by the mode of action of anti-acne agents which have been proposed to attenuate FGFR2b-signaling. Downregulation of FGFR2b-signaling by isotretinoin explains its therapeutic effect in acne. Downregulation of FGFR2b-signaling during the first trimester of pregnancy disturbs branched morphogenesis and explains retinoid embryotoxicity. Insulin-like growth factor-1 (IGF-1), the mediator of growth hormone during puberty, intracts with androgen-dependent FGFR2b-signaling and links androgen-and FGF-mediated signal transduction important in sebaceous gland homeostasis. The search for a follicular defect in the dermalepithelial regulation of growth factor-signaling in acne-prone skin appears to be a most promising approach to clarify the pathogenesis of acne.

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Section: Introductionmentioning

confidence: 99%

“…18,19 On histological examination dilated hair follicles filled with keratinous plugs were observed. 18,19 Follicular abscesses were noted in the upper and midcorium. 19 Sebaceous lobules were reported to be larger and more numerous than normal.…”

Section: Introductionmentioning

confidence: 99%

Role of FGFR2-signaling in the pathogenesis of acne

Melnik

2009

Dermato-Endocrinology

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“…Unusual sites such as the forearms and thighs are often involved (4,5). Forearm acne is believed to occur only in the most severe cases (5). The pathogenesis of aene in this syndrome is not adequately explained.…”

Section: Discussionmentioning

confidence: 99%

“…Since 1970 Apert syndrome has been discussed also in dermatological literature; Solomon et al (5) were the first to describe piiosebaceous abnormalities in these patients. Early appearance of widespread and severe acne, resistant to conventional therapies, is a common feature in these patients.…”

mentioning

confidence: 99%

Successful Isotretinoin Treatment of Acne in a Patient with Apert Syndrome

Dolenc‐Voljč

Finzgar-Perme²

2008

Acta Derm Venerol

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“…Acne is a chronic inflammatory disease and also a clinical manifestation of AS (60). Major elements contributed to the acne pathogenesis include abnormal follicular differentiation with hyperproliferation, increased sebaceous gland activity with increased sebum, as well as increased bacterial colonization, inflammation and immunological mechanisms.…”

Section: Acne In Asmentioning

confidence: 99%