Anti‐aging and hydration efficacy of a cross‐linked hyaluronic acid microstructure patch

This study evaluated the safety and efficacy of biodegradable microstructure patches composed of cross‐linked hyaluronic acid (CLHA). A primary skin irritation test showed that the CLHA patches were not an irritant, whereas a clinical study showed that application of single CLHA patches significantly improved skin hydration at the periorbital region for 3 days and at the nasolabial fold for 6 days. Patch application also improved superficial wrinkles at the periorbital region for 3 days and at the nasolabial fold for 1 day. The absence of side effects indicated that application of these CLHA microstructure patches is both safe and convenient for moisturization and anti‐wrinkle effects.     

X‐linked dominant protoporphyria: a new porphyria

X‐linked dominant protoporphyria (XLDPP) was first reported in the genetics literature in 2008. It has a phenotype very similar to erythropoietic protoporphyria (EPP), but is distinguished from EPP by higher concentrations of erythrocyte protoporphyrin (of which a high proportion is zinc‐chelated), its apparently higher incidence of liver disease, and an X‐linked dominant pattern of inheritance. Dermatologists should understand how XLDPP differs from EPP, in order to advise newly diagnosed patients correctly about the genetic implications and the long‐term management strategy. We present a case series of XLDPP to introduce this condition to the dermatology literature.     

X‐linked dominant protoporphyria: The first reported Japanese case

A 12‐year‐old boy with photosensitivity since 3 years of age presented with small concavities on both cheeks, the nasal root and the dorsal surface of both hands. According to the clinical features, erythropoietic protoporphyria (EPP) was suspected. Urine and blood samples were tested for porphyrin derivatives, which revealed a markedly elevated level of erythrocyte protoporphyrin (EP) and a diagnosis of EPP was made. The patient's mother had no photosensitivity, however, lesions appearing slightly as small scars were found on the dorsum of her right hand; his elder sister and father showed no rash. The EP levels were elevated in samples from his mother and mildly elevated in those from his elder sister and father. To obtain a definitive diagnosis, genetic analyses were performed using samples from all family members, which revealed no mutations in the ferrochelatase‐encoding gene (FECH), which is responsible for EPP. Instead, a pathological mutation of the 5‐aminolevulinic acid synthase‐encoding gene (ALAS2) was identified in samples from the patient, his mother and his elder sister, confirming a definitive diagnosis of X‐linked dominant protoporphyria (XLDPP). This is the first Japanese family reported to have XLDPP, demonstrating evidence of the condition in Japan. In addition, because XLDPP is very similar to EPP in its clinical aspects and laboratory findings, a genetic analysis is required for the differential diagnosis.     

X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients

Recessive X‐linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme. A complete deletion of the STS gene is found in 85%‐90% of cases. Rarely, larger deletions involving contiguous genes are detected in syndromic patients. We report the clinical and molecular genetic findings in a series of 35 consecutive Italian male patients. All patients underwent molecular testing by MLPA or aCGH, followed, in case of negative results, by next‐generation sequencing analysis. Neuropsychiatric, ophthalmological and paediatric evaluations were also performed. Our survey showed a frequent presence of disease manifestations at birth (42.8%). Fold and palmoplantar surfaces were involved in 18 (51%) and 7 (20%) patients, respectively. Fourteen patients (42%) presented neuropsychiatric symptoms, including attention‐deficit hyperactivity disorder and motor disabilities. In addition, two patients with mental retardation were shown to be affected by a contiguous gene syndrome. Twenty‐seven patients had a complete STS deletion, one a partial deletion and 7 carried missense mutations, two of which previously unreported. In addition, a de novo STS deletion was identified in a sporadic case. The frequent presence of palmoplantar and fold involvement in XLI should be taken into account when considering the differential diagnosis with ichthyosis vulgaris. Our findings also underline the relevance of involving the neuropsychiatrist in the multidisciplinary management of XLI. Finally, we report for the first time a de novo mutation which shows that STS deletion can also occur in oogenesis.     

Role of integrin signalling through integrin‐linked kinase in skin physiology and pathology

Cell–matrix adhesions provide structural stability to the tissue and regulate intracellular signalling pathways that are important for cell fate decisions of the different cell populations within the skin. As a consequence of these central functions, genetic or functional impairment of various key protein components of matrix adhesions plays a causative role in the aetiology or pathophysiology in a large variety of skin disorders. Research towards understanding the molecular composition of these adhesions as well as the mechanisms by which they transmit signals is therefore of obvious importance. In this essay, we discuss the roles of integrin‐linked kinase, a key component of cell–matrix adhesions, in the (patho)physiology of skin and in particular highlight its role in regulating mechanical tension and matrix remodelling both in the epidermis and in the dermis.     

X‐linked dyskeratosis congenita presenting in adulthood with photodamaged skin and epiphora

Dyskeratosis congenita (DC) is a clinically and genetically heterogeneous multisystem bone marrow failure disorder of telomere maintenance, which may present with dermatological features. The main cause of mortality is bone marrow failure, often developing in the second decade of life, although pulmonary disease and malignancies such as squamous cell carcinomas (SCCs) may also prove fatal. We report the case of a 28‐year‐old man with X‐linked DC and confirmed DKC1 gene mutation. In addition to the classic triad of nail dystrophy, hyperpigmentation and oral leucoplakia, the patient had actinic keratosis (AK) and photodamaged skin, hitherto under‐recognized features of this condition. Awareness of the clinical presentation of DC is important, as accurate clinical and molecular diagnosis affords patients and their families genetic counselling, cancer prevention and screening measures, and planning for complications such as bone marrow failure.     

Development of a simple enzyme‐linked immunosorbent assay for the detection of autoantibodies in anti‐p200 pemphigoid

Background Anti‐p200 pemphigoid is a subepidermal blistering skin disease characterized by autoantibodies against a 200‐kDa protein (p200) of the dermal–epidermal junction. The laminin γ1 chain has recently been identified as target antigen in this disease and the C‐terminus was described as an immunodominant region of laminin γ1. Diagnosis of anti‐p200 pemphigoid requires detection of serum IgG at the dermal side of 1 mol L^?1 salt‐split skin by indirect immunofluorescence microscopy and labelling of a 200‐kDa protein by Western blotting of dermal extract. However, preparation of dermal extract is not widely available, limiting the possibility of diagnosing this disease to a few laboratories. Objectives To develop a simple, sensitive and specific diagnostic tool for anti‐p200 pemphigoid. Methods Sera from patients with anti‐p200 pemphigoid (n = 35), bullous pemphigoid (BP, n = 101), epidermolysis bullosa acquisita (EBA, n = 10), antilaminin 332 mucous membrane pemphigoid (MMP, n = 14), pemphigus vulgaris (PV, n = 51) and healthy volunteers (HV, n = 131) were tested by a novel enzyme‐linked immunosorbent assay (ELISA) that employed a recombinant monomeric C‐terminal fragment of human laminin γ1 (hLAMC1‐cterm) expressed in Escherichia coli. Results Serum reactivity with hLAMC1‐cterm was detected in sera from 24 of 35 (69%) patients with anti‐p200 pemphigoid, two of 101 (2%) with BP, 0 of 10 with EBA, two of 14 (14%) with anti‐laminin 332 MMP, 0 of 51 with PV, and 0 of 131 HV. Conclusions This novel ELISA will facilitate the diagnosis of anti‐p200 pemphigoid.     

Combined autologous platelet‐rich plasma with microneedling versus microneedling with non‐cross‐linked hyaluronic acid in the treatment of atrophic acne scars: Split‐face study

Acne scarring causes cosmetic discomfort, depression, low self‐esteem and reduced quality of life. Microneedling is an established treatment for scars. A multimodality approach to scar treatment is usually necessary to achieve the best cosmetic results. The objective of this study was to evaluate the efficacy and safety of platelet rich plasma (PRP) combined with microneedling in comparison with microneedling with non‐cross‐linked hyaluronic acid for the treatment of atrophic acne scars. Forty‐one patients of 20‐40 years of age with atrophic acne scars were included. Microneedling was performed on both halves of the face. Topical application of PRP was given on right half of the face, while the left half of the face was treated with topical application of non‐cross‐linked hyaluronic acid. Four treatment sessions were given at an interval of 1 month consecutively. Goodman's Qualitative scale and the quartile grading scale are used for the final evaluation of results. There was a statistically significant improvement in acne scars after treatment among the studied group. Right and left halves showed 85.4% and 82.9% improvement, So the difference of the improvement between the two modalities is statistically insignificant P > 0.05 We conclude that microneedling has efficacy in the management of atrophic acne scars. It can be combined with either PRP or noncross‐linked hyaluronic acid to enhance the final clinical outcomes in comparison with microneedling alone. The difference between the two modalities is insignificant.     

Chemical and mechanical characterization of hyaluronic acid hydrogel cross‐linked with polyethylen glycol and its use in dermatology

Hydrogels based on hyaluronic acid are used to restore volume, hydration, and skin tone, as well as to correct scars, asymmetries or defects of the soft tissue. Hyaluronic acid is often chemically crosslinked with different crosslinking agents in order to improve its mechanical and biological properties. Here we focused on defining the chemical and mechanical characterization of a new hydrogel with specific characteristics: hyaluronic acid polyethylene glycol (PEG)‐crosslinked with a high concentration of hyaluronic acid (28 mg/mL), manufactured by MatexLab Spa, via Carlo Urbani 2, ang Via Enrico Fermi, Brindisi, Italy. We made a quantitative and qualitative analysis of the content of sodium hyaluronate in the hydrogel after polymerization and sterilization processes and also evaluated histologically the bio integration of these hydrogels in the cutaneous soft tissues. The results suggest that hyaluronic acid hydrogel PEG‐crosslinked have great bio integration, great chemical and mechanical properties, compared with other products available on the market, that are cross‐linked with different cross‐linking agents. The nontoxicity and nonimmunogenicity of PEG guarantee the lack of allergic and immunological reactions. The PEG‐crosslinking technology guarantees a high duration time of the implanted hydrogel because of more resistant physiological degradation.