Modified shark island flap for combined nasal ala-perialar defects.

612 EJD, vol. 21, n◦ 4, July-August 2011 are sporadic, although autosomal dominant inheritance and germline mosaicisms have been described. The molecular basis of the disorder is a mutation of exon IIIa in the gene coding for fibroblast growth factor receptor-2 (FGFR-2), located on chromosome 10q26. Two FGFR2 gene missense mutations involving the substitution of one of two adjacent residues, Ser252Trp or Pro253Arg, result in increased affinity for the FGF ligand [3]. The clinical characteristics of Apert syndrome are severe craniosynostosis, midface hypoplasia with a flattened occiput, hypertelorism, mandibular prognathism, parrotbeak nose (figure 1C), cutaneous and osseous syndactyly of hands (figure 1D) and feet, bilateral conductive deafness, scoliosis, lumbar spine lordosis, abnormalities of CNS, heart and genitourinary apparatus, turri-brachycephaly, proptosis, and down-slanting palpebral fissures [2]. Hydrocephalus and mental retardation may be present. Several skin manifestations have been reported, including hyperhidrosis, sebaceous gland changes, acute paronychia, plantar hyperkeratosis, hypopigmentation, dimples on knuckles, shoulders and elbows, interrupted eyebrows and excessive forehead wrinkling. Acne, one of the main skin symptoms, usually arises between 9 and 12 years of age; it is severe from onset and involves the chest and back as well as areas such as the forearms, buttocks and thighs. It is closely related to the mutation of FGFR2, which is involved in cutaneous embryogenesis and is found in epidermis, hair follicles and sebaceous glands [3]. The increased affinity of FGF for the mutant receptor induces activation of different signal transduction pathways that lead to hyperexpression of melanocortin 5 receptor (which has a role in sebocyte differentiation and lipogenesis) and to increased production of interleukin 1-alpha (IL-1 ), involved in keratinocyte proliferation and differentiation [3].