The management of complex and severe lower-extremity injuries is challenging for the orthopedic surgeon. When the primary or secondary closure of the defect is not feasible, complex procedures with graft (split-thickness or full-thickness) or flap (pedicled or free) are required. These procedures are performed by specialized plastic surgeons and are at high risk for adverse effects, even high morbidity among both the donor and acceptor sites. Furthermore, split-thickness skin grafts (STSGs) often lead to unsatisfactory results in terms of mechanical stability, flexibility, and aesthetics due to the lack of underlying dermal tissue. Consequently, dermal substitutes, such as MatriDerm (MedSkin Solutions Dr Suwelack AG, Billerbeck, Germany), have been proposed and further developed as a treatment option addressing the management of full-thickness wound defects in conjunction with STSGs. We aimed to present a case of post-traumatic full-thickness wound defect of the left foot after traumatic amputation of the digits that was treated with MatriDerm combined with autologous STSG. In addition, we performed a systematic review of the literature to delineate the efficacy of the use of MatriDerm combined with STSGs in orthopedic cases exclusively.

Elastin-driven genetic diseases are a group of complex diseases driven by elastin protein insufficiency and dominant-negative production of aberrant protein, including supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Here, a Chinese boy with a novel nonsense mutation in the ELN gene is reported.
We report a 1-year-old boy who presented with exercise intolerance, weight growth restriction with age, a 1-year history of heart murmur, and inguinal hernia. Gene sequencing revealed a novel nonsense mutation in the ELN gene (c.757 C > T (p.Gln253Ter), NM_000501.4). Due to severe branch pulmonary artery stenosis, the reconstruction of the branch pulmonary artery with autologous pericardium was performed. The inguinal hernia repair was performed 3 months postoperatively. After six months of outpatient follow-up, the child recovered well, gained weight with age, and had no special clinical symptoms.
We identified a de novo nonsense mutation in the ELN gene leading to mild SVAS and severe branch pulmonary artery stenosis. A new phenotype of inguinal hernia was also needed to be considered for possible association with the ELN gene. Still, further confirmation will be necessary.

Mid-aortic syndrome (MAS) is characterized by the congenital coarctation of the abdominal aorta, abdominal and limb claudication, and hypertension. The etiology of this disorder is very diverse and often manifests in conjunction with Takayasu\'s arteritis, Williams-Beurens syndrome, and neurofibromatosis. The isolated mid-aortic syndrome is very rare with only a few cases reported in the literature.
A 45 years old man was admitted to the Emergency Department with sudden muscle weakness and facial paralysis on the left side. Imaging studies reveal right middle cerebral artery infarction at the M1 section. Incidental findings include multiple moderate to severe stenoses in the right internal carotid artery, and total abdominal aorta occlusion. A variant at the ELN gene (Elastin, OMIM*130,160): c.1768G > A/wt (p.Ala590Thr) was identified.
This is the first reported case of ELN related mid-aortic syndrome in Vietnam which was diagnosed through careful clinical and genetic workup. The finding of mid-aortic syndrome, in this case, was incidental and the decision to reverse the occlusion was postponed as there was no immediate risk of renal failure or reduced blood flow to the lower limb.

Fragile X syndrome (FXS) is an inherited genetic condition that is the leading known cause of inherited intellectual developmental disability. Phenotypically, individuals with FXS also present with distinct physical features including, elongated face, prominent ears, pectus excavatum, macroorchidism, and joint laxity, which suggests connective tissue dysplasia. In addition to mitral valve prolapse, aortic dilatation has been identified within individuals with FXS. Abnormal elastin fiber networks have been found in the skin, valves, and aorta in individual cases. Aortic dilatation has been described in other connective tissue disorders, particularly Marfan syndrome. However, while aortic aneurysms are characteristic of Marfan syndrome, no similar cases have been reported in FXS patients to date. This case report details the presentation of two patients with FXS and aortic aneurysm. Our two cases highlight the risks of aortic pathology in FXS, and the need for monitoring in asymptomatic patients with significant aortic dilatation.

BACKGROUND: This study aims to investigate potential markers of psoriasis and aging, and to elucidate possible connections between these two processes.
METHODS: The serum samples of 60 psoriatic patients and 100 controls were analysed, and the levels of four selected parameters (AGEs, RAGE, NAD, and elastin) were determined using commercial ELISA kits. Serum C-reactive protein was assayed using an immune-nephelometry method.
RESULTS: Among the patients, the levels of CRP, AGEs, and RAGE were all increased, while the levels of NAD were reduced when compared to the control group. A negative correlation between the levels of AGEs and NAD was found. A negative correlation between age and the NAD levels among the control group was observed, however among the patients the relationship was diminished. While there was no difference in the levels of native elastin between the patients and the controls, a positive correlation between the levels of native elastin and age and a negative correlation between the levels of native elastin and the severity of psoriasis were found.
CONCLUSIONS: The results of our study support the notion of psoriasis and possibly other immune-mediated diseases accelerating the aging process through sustained systemic damage. The serum levels of CRP, NAD, AGEs, and RAGE appear to be promising potential biomarkers of psoriasis. The decrease in the serum levels of NAD is associated with (pro)inflammatory states. Our analysis indicates that the levels of native elastin might strongly reflect both the severity of psoriasis and the aging process.

Skin aging is primarily associated with the alterations in dermal extracellular matrix, in particular a decrease in collagen type-1 content. Recent studies have shown that collagen-degrading matrix metalloproteinase (MMP-1) is produced by fibroblasts in response to chronoaging, which in human dermal fibroblasts leads to the release of proinflammatory cytokines. Past studies showed that anti-inflammatory capabilities could be induced via non-chemical means. One of these methods makes use of ultra-weak fractal electromagnetic (uwf-EM) signals. Such ultra-/very-low frequency (U/VLF) signals (few nT in intensity and within 0.5-30 kHz) interact with aqueous solutions in living systems. The fractal nature of such EM-signals relates to the self-similar property by which a \"cut-out\" and magnified piece of this signal reveals again the original. Thus, the aim of this study is twofold, to i) investigate the extent of this modulating effect using Human Dermal Fibroblasts (HDF)-cells, and ii) analyse molecular rejuvenation markers therein. We could demonstrate that a 10 min uwf-EM exposure (prior to incubation) increases type-1 collagen and modulates elastin in human fibroblasts cultured up to 96 h, while at the same time reduces IL-6, TNF-α and MMP-1 (the later three being statistically significant). Such up- respectively down-regulation of corresponding genes are strong indicators of an EM-induced hormetic effect that influences the epigenomic landscape of HDFs. In the Appendix, we present, in the framework of Quantum Field Theory (QFT), water as a biphasic liquid and how its coherent fraction can be affected by uwf-EM signals while at the same time resolving the \"kT paradox\".

An elastofibroma is a rare, benign, slow-growing, progressive soft tissue neoplasm with distinct histopathological features consisting of collagen and coarse elastic fibers. When it occurs, it has a propensity for the subscapular region in elderly female patients. It can occur less commonly at other anatomical sites, and its exact etiology is unclear. The incidence of elastofibroma, especially in the foot, has been sporadically reported; however, the presentation of elastofibroma in the rearfoot has not been previously described in the literature. We present the first report of a 79-year-old female presenting with plantar heel pain secondary to an elastofibroma found at the insertion of the plantar fascia into the calcaneal tuberosity. The patient underwent surgical excision, and pathological analysis revealed the diagnosis of elastofibroma. We discuss the peculiar manifestation of elastofibroma in this case, the pathological diagnosis, and a review of the literature.

Cutis laxa is an uncommon connective tissue disorder affecting the elastin fibers leading to lax and pendulous skin and in generalized form can present with systemic involvement. Congenital cutis laxa is common in comparison to acquired cutis laxa and has varied inheritance patterns. Treatment is chiefly observation in congenital cutis laxa, and there is a paucity of literature on surgical management in acquired cutis laxa. We report a rare case of acquired localized cutis laxa with a review of literature on the role of plastic surgery in this condition.

Cutis laxa (CL) is a rare connective tissue disorder characterized by loose, redundant, inelastic and wrinkled skin. Patients develop a prematurely aged appearance. Inheritance can be autosomal dominant or autosomal recessive. The X-linked form is now classified in the group of copper transport diseases. Autosomal dominant CL is characterized by wrinkled, redundant and sagging, inelastic skin and in some cases is associated with internal organ involvement.
We report a familial case of autosomal dominant CL, which includes a 33-year-old woman and her 11-year-old son with dry, thin and wrinkled skin that appeared prematurely aged. No serious involvement of internal organs was found. In both patients, we identified novel heterozygous mutation c.2323delG (p.Ala775fs) in exon 34 of elastin transcript NM_001278939.1. Similar frameshift mutations in the last exons of elastin gene were previously reported in patients with autosomal dominant CL.
Our results show a novel frameshift mutation that was found in patients with cutis laxa. Exome sequencing is effective and useful technology for properly diagnosis of diseases with similar phenotype to ensure proper treatment is provided.

Pachydermodactyly (PDD) is a rare, benign condition characterized by swelling and thickening of the periarticular skin, most commonly at the proximal interphalangeal joints. Diagnosis is routinely made through correlation of clinical, histopathologic, and radiographic findings. Here, we report a case of PDD in a 25-year-old male, with emphasis on the clinical and histopathologic differential diagnosis and potential diagnostic pitfalls.