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Deformities of the hands occur in most patients with recessive dystrophic epidermolysis bullosa. All structures of the hand may be involved. To restore hand function, it is necessary to identify the proper method of treatment. We conducted a retrospective review of 18 patients for a total of 30 surgically treated hands. The data were collected between 1998 and 2016 at Hôpital Necker Enfants Malades (Paris, France) and Institut de la Main (Paris, France). The postoperative follow-up period ranged between 22 months and 168 months, with an average duration of 76 months. The procedure performed on all of these patients involved a first web release for the thumb and pseudosyndactyly release for the remaining digits. A full thickness skin graft was used at the level of the first commissure and palm of the hand, while acellular dermal substitutes (Integra® or Matriderm®) were used to cover the remaining commissures, digits, and the remainder of the hand, followed by a split thickness skin graft. Postoperative rehabilitation ensued. Long-term results are encouraging, demonstrating maintenance of function greater than 3 years in 57% of cases, and greater than 5 years in 33% of cases. We believe that good surgical technique followed by good rehabilitation, combined with an interdisciplinary overall management of these patients, allowed us to succeed in maintaining a very satisfactory, esthetic, and functional result exceeding 5 years for one-third of patients. The resultant psychological benefit is very important. [ABSTRACT FROM AUTHOR]

Le diagnostic des proliférations fibroblastiques et myofibroblastiques (PFMF) de l'enfant est difficile car la présentation clinique est souvent peu spécifique. Les PFMF représentent 12 % des tumeurs des tissus mous dans cette tranche d'âge, allant d'entités bénignes ou réactionnelles jusqu'à des entités à potentiel incertain ou malignes. Le diagnostic final repose sur un faisceau de données cliniques (aspect, âge de l'enfant, siège, nombre de lésions, évolution) et histologiques. La biologie moléculaire permet également désormais de mieux classer certaines de ces entités, l'objectif restant de permettre la prise en charge thérapeutique la plus adaptée possible notamment à l'avenir avec des possibilités de thérapies ciblées. The diagnosis of cutaneous fibroblastic and myofibroblastic proliferations in children remains difficult because the clinical presentation is poorly specific. They represent 12 % of soft tissue tumours in children, extending from benign or reactive entities to lesions with uncertain potential or malignant tumours. The final diagnosis requires the association of clinical data (presentation, age of the patient, location and number of lesions, evolution) and hictological data. Molecular biology is becoming helpful in the classification of such lesions, the final objective remaining the best therapeutic management with the future use of targeted therapies. [ABSTRACT FROM AUTHOR]

Résumé Le pathologiste doit se familiariser avec les principaux aspects de l'immunofluorescence directe en dermatologie, poser au mieux les indications de celle-ci, et apprendre à éviter les pièges potentiels. L'immunofluorescence directe est une technique de microscopie permettant la détection d'immunoglobulines/complexes immuns et de fractions du complément (IgG, IgA, IgM et C3) dans les tissus en utilisant des anticorps spécifiques conjugués à de la fluorescéine et un microscope à fluorescence. Elle est indispensable en dermatopathologie pour le diagnostic des maladies bulleuses auto-immunes, telles que la pemphigoïde bulleuse, le pemphigus, la dermatite herpétiforme, et peut se révéler utile également dans d'autres indications, telles que le lupus et les vascularites. Abstract The main aspects of direct immunofluorescence testing in dermatology, its indications, and potential pitfalls should be taken into account by the pathologist. Direct immunofluorescence microscopy is a technique that allows the detection of immunoglobulins/immune complexes and complement fractions (IgG, IgA, IgM and C3) in tissues, using specific fluorescein-conjugated antibodies and a fluorescence microscope. This technique is essential in dermato-pathology for the diagnosis of autoimmune blistering diseases, such as bullous pemphigoid, pemphigus, dermatitis herpetiformis, and may also be useful in other indications, such as lupus and vasculitis. [ABSTRACT FROM AUTHOR]

Multicentric reticulohistyocytosis (MRH) is a rare multisystemic non-Langerhans histiocytosis characterized by cutaneous nodules and severe destructive polyarthritis, sometimes associated with constitutional symptoms and various organ involvements. Its treatment remains empirical and challenging. We first report herein, the successful treatment of a multicentric reticulohistiocytosis patient with anakinra based on cutaneous biopsy immunostaining and serum cytokines features. A first-line treatment associating methotrexate, cortisone and hydoxychloroquine showed none improvement. Therefore, while further tests were performed to rule out an associated malignancy, auto-immune disease or mycobacterial infection, a treatment with anakinra was chosen instead of anti-TNF-alpha drugs. As soon as the 5th day, anakinra allowed control of fever, then rapid improvement of constitutional symptoms, arthritis, cutaneous lesions, and normalization of C-reactive protein, IL-6, and especially IL-1β levels. Then methotrexate was added, while anakinra was removed at the 12th month, with persistent and complete remission over the two-year follow up. Further assessment of IL-1 pathogenic role and blockade on larger cohorts of patient could open new therapeutic perspectives for refractory/relapsing MRH, considering the good tolerance profile of specific targeting drugs. [ABSTRACT FROM AUTHOR]

A major deleterious side effect of glucocorticoids is skin atrophy. Glucocorticoids activate the glucocorticoid and the mineralocorticoid (MR) receptor, both present in the epidermis. We hypothesized that glucocorticoid-induced epidermal atrophy may be related to inappropriate occupancy of MR by glucocorticoids. We evaluated whether epidermal atrophy induced by the topical glucocorticoid clobetasol could be limited by coadministration of MR antagonist. In cultured human skin explants, the epidermal atrophy induced by clobetasol was significantly limited by MR antagonism (canrenoate and eplerenone). Blockade of the epithelial sodium channel ENaC by phenamil was also efficient, identifying a role of MR-ENaC cascade in keratinocytes, acting through restoration of clobetasol-induced impairment of keratinocyte proliferation. In the SPIREPI randomized double-blind controlled trial, gels containing clobetasol, the MR antagonist spironolactone, both agents, or placebo were applied on four zones of the forearms of 23 healthy volunteers for 28 days. Primary outcome was histological thickness of the epidermis with clobetasol alone or clobetasol+spironolactone. Spironolactone alone did not affect the epidermal thickness but coapplication of clobetasol and spironolactone significantly limited clobetasol-induced atrophy and was well tolerated. Altogether, these findings identify MR as a factor regulating epidermal homeostasis and suggest that topical MR blockade could limit glucocorticoid-induced epidermal atrophy. [ABSTRACT FROM AUTHOR]