Publications

  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Bi-allelic variants in CHST14, encoding dermatan-4-O-sulfotransferase-1 (D4ST1), cause musculocontractural EDS (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-deficieny 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. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.
    Human Mutation 02/2015; DOI:10.1002/humu.22774 · 5.05 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: 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 five children with a severe autosomal recessive form of OI and in four individuals with mild-to-moderate bone fragility. BMP1/mTLD functions as the procollagen carboxy-(C)-proteinase for types I-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 four 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 bi-allelic 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. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.
    Journal of bone and mineral research: the official journal of the American Society for Bone and Mineral Research 02/2015; DOI:10.1002/jbmr.2473 · 6.59 Impact Factor
  • 12/2014; DOI:10.1016/S1761-2896(14)69292-X
  • [Show abstract] [Hide abstract]
    ABSTRACT: 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.
    Revue médicale de Liège 11/2014; 69(11):618-21.
  • [Show abstract] [Hide abstract]
    ABSTRACT: 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.
    Revue médicale de Liège 10/2014; 69(10):555-8.
  • [Show abstract] [Hide abstract]
    ABSTRACT: 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.
    Revue médicale de Liège 09/2014; 69(9):518-21.
  • [Show abstract] [Hide abstract]
    ABSTRACT: 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. Quantitative colorimetry of a corneoxenometry bioassay was used. The test procedure involved glycolic acid concentrations ranging from 3% to 70% in alcoholic solution. Exposure times were set for 1 min and 3 min. The bioassay showed consistent reactivity with a dose-effect relationship when using the selected low exposure times. In a similar procedure the aggressiveness of commercially available phenolic acid formulations was identified not using hazardous in vivo testing. Corneoxenometry appears useful for in vitro testing of AHA peeling agents during short exposure times.
    British Journal of Dermatology 09/2014; 171 Suppl 3:34-7. DOI:10.1111/bjd.13244 · 4.10 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: 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.
    Clinical, Cosmetic and Investigational Dermatology 08/2014; 7:225-30. DOI:10.2147/CCID.S66929
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: 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. In the vast majority of cases, it is painless and is unassociated with adverse events. CSSS can be performed in subjects of any age. The method has a number of applications in diagnostic dermatopathology and cosmetology, as well as in experimental dermatology settings. A series of derived analytic procedures include xerosis grading, comedometry, corneofungimetry, corneodynamics of stratum corneum renewal, corneomelametry, corneosurfametry, and corneoxenometry.
    08/2014; 2014:462634. DOI:10.1155/2014/462634
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: 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.
  • [Show abstract] [Hide abstract]
    ABSTRACT: 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. Such condition stands out in the medical history to induce clinical consequences. They are sometimes prominent introducing diverse lesions such as Bateman purpura, stellate scars and wounds following minor trauma.
    Revue médicale de Liège 04/2014; 69(4):210-3.
  • Source
    Trinh Hermanns-Lê, Sébastien Piérard
    [Show abstract] [Hide abstract]
    ABSTRACT: 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. The vast majority of these SCMs were of the superficial type without any obvious relationship with a large number of melanocytic nevi or with signs of frequent and intense sunlight exposures as disclosed by the extent in the mosaic subclinical melanoderma. A series of investigations pointed to a possible relationship linking the development of some SCM to the women hormonal status including the effect of hormonal disruptors. These aspects remain, however, unsettled and controversial. It is possible to differentiate and clearly quantify the SCM shape, size, scalloped border, and variegated pigmentation using computerized morphometry as well as fractal and multifractal methods.
    02/2014; 2014:320767. DOI:10.1155/2014/320767
  • [Show abstract] [Hide abstract]
    ABSTRACT: In recent years, clinical dermoscopy has yielded improvement in the early disclosure of various atypical melanocytic neoplasms (AMN). Beyond this approach, histopathology of AMN remains mandatory in the establishment of their precise diagnosis and proper management. Of note, panels of expert pathologists in AMN diagnosis report only moderate agreement in a variety of puzzling cases. The risk for divergence in opinion and microscopic misdiagnosis is probably increased when histopathologic criteria are not fine-tuned and when the number of AMN entities is increasing. In addition, some of the AMN have been differently designated in the literature including atypical Spitz tumor, metastasizing Spitz tumor, borderline and intermediate melanocytic tumor, malignant Spitz nevus and pigmented epithelioid melanocytoma or animal-type melanoma. Some acronyms have been further proposed such as MELTUMP (after ‘melanocytic tumor of uncertain malignant potential’) and STUMP (after ‘Spitzoid melanocytic tumor of uncertain malignant potential’). In this review, such AMN at the exclusion of cutaneous malignant melanoma variants are grouped under the tentative broad heading ‘cutaneous melanocytoma’. These lesions typically follow an indolent course, although they exhibit atypical and sometimes worrisome patterns or cytologic aspects. Rare cases of cutaneous melanocytomas progress to locoregional clusters of lesions (agminate lesions), and even to regional lymph nodes. At times, the distinction between a cutaneous melanocytoma and malignant melanoma remains problematic and even proves to be merely impossible. However, multipronged immunohistochemistry helps to assess the malignancy risk.
    Expert Review of Dermatology 01/2014; 8(2). DOI:10.1586/edm.13.11
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: 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. 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. 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. 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.
    Clinical, Cosmetic and Investigational Dermatology 01/2014; 7:111-8. DOI:10.2147/CCID.S60313
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Menopause is a key point moment in the specific aging process of women. It represents a universal evolution in life. Its initiation is defined by a 12-month amenorrhea following the ultimate menstrual period. It encompasses a series of different biologic and physiologic characteristics. This period of life appears to spot a decline in a series of skin functional performances initiating tissue atrophy, withering, and slackness. Any part of the skin is possibly altered, including the epidermis, dermis, hypodermis, and hair follicles. Hormone replacement therapy (oral and nonoral) and transdermal estrogen therapy represent possible specific managements for women engaged in the climacteric phase. All the current reports indicate that chronologic aging, climacteric estrogen deficiency, and adequate hormone therapy exert profound effects on various parts of the skin.
    12/2013; 2013:971760. DOI:10.1155/2013/971760
  • [Show abstract] [Hide abstract]
    ABSTRACT: Climacteric ageing refers to the period of women's life centered by the perimenopause. This step of life is responsible for initiating skin atrophic withering and slackness responsible for changes in the viscoelasticity of the dermal connective tissue. Some women benefit from hormone replacement therapy (HRT) for controlling some unpleasant internal climacteric changes (osteoporosis, vasomotor instability, …). To investigate some corrective effects of HRT on the functional damages in the dermal tensile strength. The present study was performed on 200 healthy Caucasian women. In vivo skin viscoelasticity was assessed using the suction method. Skin distensibility and hysteresis appeared increased at menopause with or without HRT. By contrast, the biological elasticity significantly decreased out of HRT. Some drugs and cosmetics might attempt at improving such viscoelastic attributes of the skin at menopause. This article is protected by copyright. All rights reserved.
    International journal of cosmetic science 10/2013; DOI:10.1111/ics.12100 · 1.45 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Abstract The COL VI mutations are responsible for a spectrum of myopathies. The authors report cutaneous ultrastructural alterations in a patient with COL6A2 myopathy. The changes include variations in size of collagen fibrils, flower-like sections of collagen fibrils, as well as thickening of vessel and nerve basement membranes. Electron microscopy of a skin biopsy contributes to the diagnosis of COL VI myopathies.
    Ultrastructural Pathology 10/2013; 38(2). DOI:10.3109/01913123.2013.829151 · 1.13 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Ehlers-Danlos syndrome type VIII (EDS-VIII) is a very rare autosomal dominant disease characterized by early-onset periodontitis associated with features of Ehlers-Danlos syndrome. We report a 32-year-old man whose chronic leg ulcer led to the diagnosis of EDS-VIII. He had severe periodontitis with complete loss of permanent teeth and skin fragility with thin skin, atrophic scars, and brownish atrophic pretibial plaques. Leg ulcer is not a prominent feature of EDS-VIII. We suggest adding EDS-VIII to the list of rare diseases accounting for chronic leg ulcers, if this case report prompts others to report leg ulcers associated with EDS-VIII.
    10/2013; 2013:469505. DOI:10.1155/2013/469505
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Circulating sex hormones follow major fluctuations during the ovarian cycle. The so-called premenstrual syndrome represents a global condition grouping the diversity of catamenial disorders. At the skin level, the sebaceous gland activity is obviously modulated by these endocrine fluctuations. In addition, a series of pathological manifestations take place simultaneously in some women. Among them, the most frequent skin condition is represented by catamenial acne. Concurrently, the autoimmune progesterone dermatitis refers to a diversity of skin alterations resulting from an immune reaction to progesterone. It is present under variable clinical aspects. A series of other recurrent skin conditions are not specifically induced but are merely exacerbated at the end of the ovarian cycle.
    10/2013; 2013:156459. DOI:10.1155/2013/156459
  • [Show abstract] [Hide abstract]
    ABSTRACT: Introduction: When using adequate wavelength illumination and high resolution recordings, Caucasian skin color appears uneven. The patterns of faint mosaic melanoderma (FMM) are diverse and possibly related to the risk of skin cancer development. Areas covered: The current peer-reviewed publications about objective methods quantifying FMM are revisited. The images from the Visioscan® and Visioface® Quick devices are computerized in order to record the ultraviolet light-enhanced visualization (ULEV) and the color-enhanced visualization (CEV) of the skin. Previously published data regarding the FMM are gathered in 20 odd Caucasian women. Seven FMM patterns are distinguished. They appear expressed differently according to body regions, but the mean gray level appears more uniform. Expert opinion: The combination of larger subclinical melanotic macules and ivory spots during early adulthood is apparently associated with an increased risk for non-melanoma skin cancers.
    Expert Opinion on Medical Diagnostics 08/2013; DOI:10.1517/17530059.2013.823155

29 Following View all

32 Followers View all