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Gérald E Piérard,1 Trinh Hermanns-Lê,2 Sébastien L Piérard,3 Lucas Dewalque,4 Corinne Charlier,4 Claudine Piérard-Franchimont,2 Philippe Delvenne2 1Laboratory of Skin Bioengineering and Imaging (LABIC), Department of Clinical Sciences, Liège University, 2Department of Dermatopathology, Unilab Lg, University Hospital of Liège, 3INTELSIG Laboratory, Montefiore Institute, University of Liège, 4Department of Clinical, Forensic and Environmental Toxicology, University Hospital of Liège, Liège, Belgium Background: Human cutaneous malignant melanoma (CMM) is an aggressive cancer showing a dramatic worldwide increase in incidence over the past few decades. The most prominent relative epidemiological increase has been disclosed in young women. The aim of the study was to assess the effects of chronic sun exposures in order to rate the extend of melanocytic stimulations in the vicinity of CMM. Methods: The study was designed to evaluate the melanin distribution and density using ultraviolet light illumination. The present study was performed on surgical excision specimens of thin CMM lesion removed from the upper limbs of 55 Caucasian adults (37 women and 18 men). Two control groups comprised 23 men and 21 women of similar ages who had medium-size congenital melanocytic nevi, also present on the upper limbs. The peritumoral skin was scrutinized using a Visioscan® VC98 device, revealing the faint mosaic melanoderma (FMM) pattern that grossly indicates early signs of chronic photodamage in epidermal melanin units. Results: The median extent of relative FMM was significantly higher in the CMM male group. By contrast, the CMM female group showed a reverse bimodal distribution in FMM size. Only 12/37 (32.5%) of the CMM female group had an increased FMM size, whereas 25/37 (67.5%) of females with CMM had a global FMM extent in the normal range, relative to the controls. Conclusion: Thin CMM supervening in young women appear unrelated to repeat photoexposure. Other mechanisms are possibly involved. Keywords: gender, HOX gene, ULEV method, genotoxicity, faint mosaic melanoderma

Gérald E Piérard,1 Trinh Hermanns-Lê,1 Ulysse Gaspard,2 Claudine Piérard-Franchimont11Laboratory of Skin Bioengineering and Imaging, Department of Clinical Sciences, University of Liège, 2Department of Gynecology and Obstetrics, University Hospital of Liège, Liège, BelgiumBackground: Climacteric skin aging affects certain biophysical characteristics of facial skin. The purpose of the present study was to assess the symmetric involvement of the cheeks in this stage of the aging process.Methods: Skin viscoelasticity was compared on both cheeks in premenopausal and post-menopausal women with indoor occupational activities somewhat limiting the influence of chronic sun exposure. Eighty-four healthy women comprising 36 premenopausal women and 48 early post-menopausal women off hormone replacement therapy were enrolled in two groups. The tensile characteristics of both cheeks were tested and compared in each group. A computerized suction device equipped with a 2 mm diameter hollow probe was used to derive viscoelasticity parameters during a five-cycle procedure of 2 seconds each. Skin unfolding, intrinsic distensibility, biological elasticity, and creep extension were measured.Results: Both biological elasticity and creep extension were asymmetric on the cheeks of the post-menopausal women. In contrast, these differences were more discrete in the premenopausal women.Conclusion: Facial skin viscoelasticity appeared to be asymmetric following menopause. The possibility of asymmetry should be taken into account in future studies of the effects of hormone replacement therapy and any antiaging procedure on the face in menopausal women.Keywords: climacteric aging, biomechanics, photoaging, skin unfolding, biological elasticity, skin tensile properties

Gérald E Piérard,1 Sophie Seité,2 Trinh Hermanns-Lê,3 Philippe Delvenne,3 André Scheen,4 Claudine Piérard-Franchimont3 1Laboratory of Skin Bioengineering and Imaging (LABIC), University of Liège, Liège, Belgium; 2La Roche-Posay Pharmaceutical Laboratories, Asnières, France; 3Department of Dermatopathology, Unilab Lg, Liège University Hospital, Liège, Belgium; 4Department of Diabetology, Nutrition and Metabolic Diseases, and Clinical Pharmacology Unit, Liège University Hospital, Liège, Belgium Background: Some relationships are established between diabetes mellitus (DM) and a series of cutaneous disorders. Specific dermatoses are markers for undiagnosed DM. Other disorders represent supervening complications in an already treated DM patient. Objective: To review the information about dermocosmetic care products and their appropriate use in the management and prevention of dermatoses related to DM. Method: The peer-reviewed literature and empiric findings are covered. Owing to the limited clinical evidence available for the use of dermocosmetics, a review of the routine practices and common therapies in DM-related dermatoses was conducted. Results: Some DM-related dermatoses (acanthosis nigricans, pigmented purpuric dermatosis) are markers of macrovascular complications. The same disorders and some others (xerosis, Dupuytren's disease) have been found to be more frequently associated with microangiopathy. Other skin diseases (alopecia areata, vitiligo) were found to be markers of autoimmunity, particularly in type 1 DM. Unsurprisingly, using dermocosmetics and appropriate skin care has shown objective improvements of some DM-related dermatoses, such effects improve the quality of life. The most common skin manifestations of DM fall along continuum between "dry skin," xerosis, and acquired ichthyosis, occurring predominately on the shins and feet. Dermocosmetic products improve the feeling of well-being for DM patients. Keywords: diabetes mellitus, skin, dermocosmetics, diabetic xerosis

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Purpose: Infantile Caffey disease is a rare disorder characterized by acute inflammation with subperiosteal new bone formation, associated with fever, pain, and swelling of the overlying soft tissue. Symptoms arise within the first weeks after birth and spontaneously resolve before the age of two years. Many, but not all, affected individuals carry the heterozygous pathogenic COL1A1 variant (c.3040C>T, p.(Arg1014Cys))., Methods: We sequenced COL1A1 in 28 families with a suspicion of Caffey disease and performed ultrastructural, immunocytochemical, and biochemical collagen studies on patient skin biopsies., Results: We identified the p.(Arg1014Cys) variant in 23 families and discovered a novel heterozygous pathogenic COL1A1 variant (c.2752C>T, p.(Arg918Cys)) in five. Both arginine to cysteine substitutions are located in the triple helical domain of the proα1(I) procollagen chain. Dermal fibroblasts (one patient with p.(Arg1014Cys) and one with p.(Arg918Cys)) produced molecules with disulfide-linked proα1(I) chains, which were secreted only with p.(Arg1014Cys). No intracellular accumulation of type I procollagen was detected. The dermis revealed mild ultrastructural abnormalities in collagen fibril diameter and packing., Conclusion: The discovery of this novel pathogenic variant expands the limited spectrum of arginine to cysteine substitutions in type I procollagen. Furthermore, it confirms allelic heterogeneity in Caffey disease and impacts its molecular confirmation., (© 2021. The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics.)

As exertional inspiratory dyspnea is a common disabling complaint in hypermobile Ehlers-Danlos syndrome (hEDS) often also known as joint hypermobility syndrome (JHS), we investigated inspiratory muscle (IM) strength in patients with hEDS, and we assessed the effects of IM training (IMT) on IM strength, lung function, and exercise capacity. A prospective evaluation of IM strength followed by a randomized controlled trial of IMT was performed in women with hEDS. Sniff nasal inspiratory pressure (SNIP) was used to routinely measure IM strength and IMT was carried out using a pressure threshold device. IM strength (main outcome), cardiopulmonary function, exercise capacity, and emotional distress of both the treated and control groups were evaluated at the start and at the end of the 6-week training period. IM strength was reduced (<80% of predicted) in 77% of patients (80/104). Lung function was normal, although 24% of patients had a higher forced expiratory vital capacity (FVC) than normal and 12% of patients had a higher total lung capacity (TLC) than normal. Both the IMT and control groups (n = 20) had similar baseline characteristics. Significant changes were noted only in the IMT group after IMT. At the end of the program, IMT improved SNIP (20%) (before: 41 ± 17 cm H 2 O [28, 53] vs. after: 49 ± 18 cm H 2 O [34;65]), six-minute walking distance (6MWD) (60 m) (455 ± 107 m [379,532] vs. 515 ± 127 m [408, 621]), and forced expiratory volume in one second (FEV1) (285 mL) (94 ± 14% pred [84,104] vs. 103 ± 11% pred [94, 112]). IM strength is significantly reduced in patients with hEDS. IMT improved IM strength, lung function, and exercise capacity. Our findings suggest that IMT should be added to usual care., (© 2018 Wiley Periodicals, Inc.)

In their early stages, some dermatoses of the scalp such as psoriasis seborrheic dermatitis, tinea capitis and discoid lupus erythematosus are often hardly noticeable to others. However, the eruptions are occasionally severe and extensive. Reaching an adequate diagnosis is of utmost impor¬tance for an adequate healthcare.

Superficial minor wounds represent frequent events in daily practice. Their evolution is often favourable and without any mishap. However, they possibly evolve to some serious episodes. Normal healing develops in three successive phases. They correspond to the inflammatory, proliferative and remodeling phases, respectively. Their treatments are distinct. The major active agents are cleaning products, antiseptics, corticosteroids and silicone gels. By contrast products claiming some healing properties are disappointing in most cases, and in some instances, they are of no use.

Basal cell carcinomas (BCCs) are the most frequent human cancer. Over 90% of all BCCs have a mutation in PTCH1 or smoothened, two conducting proteins of the Hedgehog pathway. They rarely progress deeply and metastasize; however, if they do, these advanced basal cell carcinoma become amenable to treatment by inhibiting the Hedgehog and the P13K-mTOR pathways. Such innovative drugs include vismodegib, cyclopamine, itraconazole, everolimus and a few other agents that are in early clinical development.

In recent years, the population and producers of consumer products became aware of deleterious effects of some substances on human health and environment. Cosmetic products are part of such concern. What are the risks currently involved? The so-called "natural", "bio" or "green" products, do they represent an ideal panacea? This topic has a complex issue because documents available for the general public are of unequal quality, and objective scientifc publications remain rare and prone to controversies.

Cutaneous melanoma is the deadliest skin cancer showing an increasingly growing incidence in white populations of Europe and United States. Intensive research in recent years has begun to unlock its molecular pathogenesis. Screening the neoplasm at an early stage remains primordial. Hence, targeting populations at risk is likely efficient. In such an attempt, the regular clinical examination benefits from a series of non invasive procedures such as skin surface biopsies, in vivo confocal microscopy, dermoscopy and specular fluorescent light reflectance.

Whereas the vast majority of osteogenesis imperfecta (OI) is caused by autosomal dominant defects in the genes encoding type I procollagen, mutations in a myriad of genes affecting type I procollagen biosynthesis or bone formation and homeostasis have now been associated with rare autosomal recessive OI forms. Recently, homozygous or compound heterozygous mutations in BMP1, encoding the metalloproteases bone morphogenetic protein-1 (BMP1) and its longer isoform mammalian Tolloid (mTLD), were identified in 5 children with a severe autosomal recessive form of OI and in 4 individuals with mild to moderate bone fragility. BMP1/mTLD functions as the procollagen carboxy-(C)-proteinase for types I to III procollagen but was also suggested to participate in amino-(N)-propeptide cleavage of types V and XI procollagens and in proteolytic trimming of other extracellular matrix (ECM) substrates. We report the phenotypic characteristics and natural history of 4 adults with severe, progressive OI characterized by numerous fractures, short stature with rhizomelic shortening, and deformity of the limbs and variable kyphoscoliosis, in whom we identified novel biallelic missense and frameshift mutations in BMP1. We show that BMP1/mTLD-deficiency in humans not only results in delayed cleavage of the type I procollagen C-propeptide but also hampers the processing of the small leucine-rich proteoglycan prodecorin, a regulator of collagen fibrillogenesis. Immunofluorescent staining of types I and V collagen and transmission electron microscopy of the dermis show impaired assembly of heterotypic type I/V collagen fibrils in the ECM. Our study thus highlights the severe and progressive nature of BMP1-associated OI in adults and broadens insights into the functional consequences of BMP1/mTLD-deficiency on ECM organization., (© 2015 American Society for Bone and Mineral Research.)

Ehlers-Danlos syndrome (EDS) represents a heterogeneous group of disorders of the connective tissue structure. Currently, several types are distinguished following a limited set of clinical signs and genetic mutations. However, there is a lack of specificity of most recognized genetic alterations with the current clinical typing. In addition, the criteria from dermatopathology, ultrastructure and biomechanics are not considered. In addition, the established EDS frontiers are hazardous because a series of anatomo-clinical signs are not considered in the classical EDS concept. The hypermobile type EDS represents an example of the diagnostic uncertainties. It results that guidelines based on evidence-based medicine cannot be established. Only an individual management can be offered to the concerned patients.

Bi-allelic variants in CHST14, encoding dermatan 4-O-sulfotransferase-1 (D4ST1), cause musculocontractural Ehlers-Danlos syndrome (MC-EDS), a recessive disorder characterized by connective tissue fragility, craniofacial abnormalities, congenital contractures, and developmental anomalies. Recently, the identification of bi-allelic variants in DSE, encoding dermatan sulfate epimerase-1 (DS-epi1), in a child with MC-EDS features, suggested locus heterogeneity for this condition. DS-epi1 and D4ST1 are crucial for biosynthesis of dermatan sulfate (DS) moieties in the hybrid chondroitin sulfate (CS)/DS glycosaminoglycans (GAGs). Here, we report four novel families with severe MC-EDS caused by unique homozygous CHST14 variants and the second family with a homozygous DSE missense variant, presenting a somewhat milder MC-EDS phenotype. The glycanation of the dermal DS proteoglycan decorin is impaired in fibroblasts from D4ST1- as well as DS-epi1-deficient patients. However, in D4ST1-deficiency, the decorin GAG is completely replaced by CS, whereas in DS-epi1-deficiency, still some DS moieties are present. The multisystemic abnormalities observed in our patients support a tight spatiotemporal control of the balance between CS and DS, which is crucial for multiple processes including cell differentiation, organ development, cell migration, coagulation, and connective tissue integrity., (© 2015 WILEY PERIODICALS, INC.)

The melanotic facial pigmentation of each individual is frequently heterogeneous, even when this condition remains imperceptible under natural ambient light. However, with aging, this aspect may appear to everybody. The melanin heterochromia has various origins including ethnicity, the hormonal impact, the influence of various inflammatory, toxic and drug-induced disorders, as well as the impact of photoaging. The cheetah-look aspect is thus established and well identified under ultraviolet light or using an ingenious trick selecting some wavelengths of visible light.

Wound healing following partial thickness thermal burns is commonly hampered by the risk of hypertrophic scarring. Skin myofibroblast (MF) density is commonly increased in postburn healing. The transition between fibroblast-like cells and α-smooth muscle actin (SMA)+ MF possibly begins with CD14+ monocytes, evolving to CD14+ CD34+ fibrocytes, followed by β-SMA+ protomyofibroblast (PMF) maturation. Skin biopsies from 25 burn patients were collected about 1 and 4 weeks after injury. Immunohistochemistry was performed using monoclonal antibodies to α-SMA, β-SMA, factor XIIIa, lysozyme, Mac 387, CD14, CD117 and Ulex europaeus agglutinin-1 (UEA-1). The set of Mac 387+ and CD14+ monocytes was accompanied by both CD34+ fibrocytes and factor XIIIa+ dendrocytes. By contrast, β-SMA+ PMF were rare. Of note, α-SMA+ MF were more abundant at week 4 than at week 1 (p < 0.01). The UEA-1+ endothelial cells showed marked variations in their dermal distribution, irrespective of the densities in the other scrutinized cells. In conclusion, healing of partial thickness thermal burns involves a diversity of cell types including PMF. In the present samples, the PMF density remained low. © 2015 S. Karger AG, Basel.

The stratum corneum materializes the interface between the body and its environment. Such a structure is influenced by the climate and seasons. A series of physicochemical parameters are involved in this relationship. Among them, the relative humidity, the dew point, the insensible loss of water and the concepts of water-as-ice and the higgledy-piggledy-water.

The recognition of a complex disorder associating skin psoriasis and its comorbidities has considerably progressed over recent years. Beyond the skin lesions, psoriatic arthritis, the metabolic syndrome, type II diabetes, cardiovascular disease, inflammatory bowel diseases, and some cancers represent a group of chronic systemic disorders. The process is initiated and sustained by an immunological pathway involving Th1, Th17 and Th22 lymphocytes. The recognition of this complex disorder indicates that the clinical impact of psoriasis is not exclusively limited to the skin only.

The presentations of primary and metastatic cutaneous malignant melanoma (CMM) are very diverse. Evidence increasingly indicates that single CMM cells spread to distant sites quite early during cancer progression and are soon eliminated before they become clinically detectable. However bulky metastases which appear at a later stage might derive from some of these early neoplastic cells. It seems that local CMM single cell micro-metastases commonly predict sentinel lymph node involvement without overtly reflecting CMM progression to bulky visceral metastases. This study is intended to review the current understanding of the mechanisms underlying two CMM presentations. The first is the long interval, apparently disease-free, with persistent CMM dormancy, which may precede overt metastatic growth. Immunosurveillance may induce dormancy in single CMM cells disseminated in the body by blocking their proliferation cycle. The second is the so-called CMM smoldering phenomenon, which is marked by an alternate progression and regression of CMM locally with metastases that wax and wane for long periods of time over restricted skin areas. These very diverse patterns of CMM progression are likely to be ascribable to a number of biological factors, including the activation of CMM stem cells, and the combined phenotypic heterogeneity and variability in proliferative amplification in CMM cell clusters. Furthermore an adequate stimulation of CMM immune-surveillance and the induction of a specific stromal structure and vascular response are required. In this context, most early CMM tumors are in part controlled by lymphocyte-mediated responses before they become clinically detectable. However both the role of immune-surveillance and the mechanisms underlying both persistent and smoldering CMM dormancy remain unclear.

Keloid is a protruding hypertrophic fibrous formation of the dermis. It corresponds to a tough lesion at palpation. Two clinical types are distinguished. They correspond either to a peculiar evolution of a scar, or to a seemingly spontaneous event. Such lesion is characterized by massive deposits of collagen bundles. This aspect is distinct from hypertrophic scars primarily representing an accumulation of fibroblasts and small vessels.

Human scabies is an ectoparasitosis affecting any individual at any age. The level of infestation by Sarcoptes scabiei var. hominis is influenced by any defect in immune response. Several clinical types of scabies are described including baby scabies, profuse scabies of immunodepression, norvegian scabies and sarcoptic mange. Onchocerciasis dermatitis is a tropical microfilariosis completely distinct by its parasitic nature.