Inherited disorders of elastic tissue represent a complex and heterogeneous group of diseases, characterized often by sagging skin and occasionally by life-threatening visceral complications. In the present study, we report on an autosomal-recessive disorder that we have termed MACS syndrome (macrocephaly, alopecia, cutis laxa, and scoliosis). The disorder was mapped to chromosome 20p11.21-p11.23, and a homozygous frameshift mutation in RIN2 was found to segregate with the disease phenotype in a large consanguineous kindred. The mutation identified results in decreased expression of RIN2, a ubiquitously expressed protein that interacts with Rab5 and is involved in the regulation of endocytic trafficking. RIN2 deficiency was found to be associated with paucity of dermal microfibrils and deficiency of fibulin-5, which may underlie the abnormal skin phenotype displayed by the patients.

Background Intense focused ultrasound (IFUS) is a Nonablative skin tightening technology with good safety profile, but limited efficacy. Most clinical studies have been performed to evaluate the efficacy of the Ulthera IFUS (Ulthera, Mesa, AZ) in treating redundant skin. Objective To report our experience with Doublo IFUS (Doublo™, HIRONIC Co.) for treating neck and lower face laxity. Methods This is a prospective study of 43 patients with neck and lower facial laxity treated using IFUS. Response was assessed by two independent dermatologists and graded on a scale of 0 (exacerbation) to 5 (75%‐100% improvement). Patient's level of “sagging” and “volume loss”, satisfaction and tolerance were documented. Results Nine subjects (52.9%) mentioned some improvement. Erythema and edema were acute and transient responses. Conclusion Ultrasound appears to be a safe modality for facial skin tightening in selected patients with minor skin sagging and no volume discrepancy.

Background. Treatment options for atrophic acne scars include the use of various energy-based devices (EBDs) and dermal fillers. Aim. To evaluate the level of improvement and safety of four treatments for atrophic acne scars used in our centre. Methods. We reviewed the medical records of all patients with acne scars treated between 2013 and 2016 with one of four treatments: ablative fractional CO 2 laser (FACL), a radiofrequency (RF) bipolar device, a 1540 nm nonablative fractional laser (NAFL) and injection of diluted calcium hydroxylapatite (CaHA). The EBDs were used either as monotherapy or in combination with diluted CaHA. The aesthetic improvement achieved following the various treatments was evaluated by the patients and by two independent dermatologists who were not involved in the treatments. The patients also rated their satisfaction with the treatment, recorded the number of days of downtime (including time to full recovery and time for resolution of redness) and reported any adverse effects (AEs). Results. In total, 352 patients (mean AE SD age 28.7 AE 8.7 years; 65.6% women, 34.4% men) were treated for acne scars. The integrated mean Global Assessment Scale by both dermatologists and patients were highest for the combined CaHA-FACL treatment at separate sessions (injection in one session; laser treatment in another) (P < 0.001). However, patients treated with FACL reported more AEs and longer downtime and duration of erythema. Conclusion. The combination of a diluted CaHA-based filler injection followed by FACL in separate treatment sessions yielded better aesthetic improvement compared with the other tested treatments.

Background/Objectives: High a naevus counts and atypical naevi are risk factors for cutaneous melanoma. However, many individuals with a highrisk naevus phenotype do not develop melanoma. In this study, we describe the clinical and dermoscopic attributes of naevi associated with melanoma in a high-risk naevus phenotype population.Methods: This single-centre, hospital-based casecontrol study included 54 prospectively enrolled adult patients ≥18 years old with a high-risk naevus phenotype (18 cases with a history of melanoma and 36 ageand gender-matched controls without a history of melanoma). We analysed clinical and dermoscopic images of the 20 largest naevi for each participant.Results: Cases had a higher mean age than controls (48.2 vs. 39.1 years, P = 0.007) but there was no difference in the male-to-female ratio between groups. Nearly, all participants (97%) were Fitzpatrick skin type II or III. Naevi in cases were more likely to be truncal, (72.6% vs. 53.6%, P = 0.01), particularly anterior truncal, (29.2% vs. 14.4%, P < 0.001) and larger than 8 mm (17.4% vs. 7.8%%, P = 0.01) compared to controls. CASH score of naevi did not differ between groups. Naevi in cases were more likely to have a multicomponent dermoscopic pattern than in controls (18.4% vs. 12.6%, P = 0.02). Conclusion:Larger naevi, truncal naevi, and naevi, with a multicomponent dermoscopic pattern may be risk factors for melanoma among individuals with a high-risk naevus phenotype. Further studies are needed to validate these findings.