Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen.

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.

Inspiratory muscle strength training improves lung function in patients with the hypermobile Ehlers-Danlos syndrome: A randomized controlled trial.

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.

[Severe Mast Cell Activation Syndrome in a 15-year-old patient with an hypermobile Ehlers-Danlos syndrome].

We report the history of a 15-year old patient with a hypermobile Ehlers-Danlos syndrome (hEDS) (his mother, his two brothers and his sister have the same phenotype as him). He suffers mainly from a severe mast cell activation syndrome (MCAS) with an overreaction of the skin to any kind of contact (water of the shower, clothes, bed sheets) but he has also fatigue, headaches, and rash. This impressive rash is exacerbated after the shower and he has the urge to rest («shower's sign»).

[How I explore… scalp and hairin erythemato-squamous disorders].

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.

[How I treat... minor superficial wounds].

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.

[HOW I EXPLORE... SKIN COMPLEXION BY ANALYTICAL APPROACH].

Skin colour is important for interindividual relationships considerations, as well as for the assessment of some physiopathological aspects. Its subjective assessments varies among observers and according to light. By contrast, an objective approach, both qualitative and quantitative by analytical measurements, has been available for some years.

[The dark face of cosmetics. A justified or excessive diatribe?].

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.

[GAZING INTO A CRYSTAL BALL AND DETECTING SUBJECTS AT RISK FOR DEVELOPING CUTANEOUS MELANOMA].

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.

Hedgehog- and mTOR-targeted therapies for advanced basal cell carcinomas.

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.

[EHLERS-DANLOS SYNDROME OF THE HYPERMOBILE TYPE: A MULTISYSTEMIC DISORDER. CONTRIBUTION OF SKIN ULTRASTRUCTURE TO INDIVIDUAL MANAGEMENT].

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.

[How I explore ... the cheetah-look of the skin under selected light wavelengths].

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.

Protomyofibroblast Pathway in Early Thermal Burn Healing.

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.

Dormancy of growth-stunted malignant melanoma: sustainable and smoldering patterns.

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.

[Climatic changes and the antinomy of dehydrating water].

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.

[Diagnosis and evolution of a keloid].

Keloid is a protruding hypertrophic fibrous formation of the dermis. It corresponds to a tough lesion at palpation. Two clinical types are distinguished.

[Psoriasis syndrome with its comorbidities].

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.

Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.

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).

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.

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.

Recent advances in toxicological testing of the stratum corneum.

α-Hydroxy acid (AHA) formulations are commonly used for skin chemical peelings. The primary target is the stratum corneum (SC). The aim of this study was to assess the effects of various glycolic acid concentrations and commercial phenolic acid formulations on the SC.

In vivo skin fluorescence imaging in young Caucasian adults with early malignant melanomas.

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.

Cyanoacrylate skin surface stripping and the 3S-Biokit advent in tropical dermatology: a look from Liège.

In the dermatopathology field, some simple available laboratory tests require minimum equipment for establishing a diagnosis. Among them, the cyanoacrylate skin surface stripping (CSSS), formerly named skin surface biopsy or follicular biopsy, represents a convenient low cost procedure. It is a minimally invasive method collecting a continuous sheet of stratum corneum and horny follicular casts.

[Diagnosis and evolution of scabies].

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.

[Dermatoporosis, a vintage for atrophoderma and transparent skin].

Skin ageing occasionally manifests itself at long-term by severe atrophoderma. Systemic or topical corticotherapy exerts an atrophic impact mimicking the effects of old age. Such atrophoderma condition has been described as transparent skin about 40 years ago, and it received more recently the new denomination of dermatoporosis.

Asymmetric facial skin viscoelasticity during climacteric aging.

Background: 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.

Streamlining cutaneous melanomas in young women of the Belgian Mosan region.

Sporadic cutaneous melanoma (SCM) has shown a dramatic increase in incidence in Caucasian populations over the past few decades. A particular epidemiological increase was reported in women during their childbearing age. In the Belgian Mosan region, a progressive unremitting increase in SCM incidence was noticed in young women for the past 35 years.