Juliette Mazereeuw-Hautier

..The identification of novel processed forms of LEKTI provides the basis for future functional and structural studies of fragments with physiological relevance...

..It is a benign affection, progressing in flares, occasionally provoking severe pruritus. Treatments are disappointing, and the disease heals spontaneously after a few years...

..To our knowledge, there have been no previous reports of yellow-orange discoloration of the skin and xanthomas associated with this disease...

..There is limited information regarding quality of life in patients with inherited ichthyosis...

..Different histologic features have been seen and, at times, acantholytic dyskeratosis has been observed. We report a new case of acantholytic dyskeratotic epidermal nevus...

..The p.G608G LMNA mutation is the most commonly reported mutation. Correlations between genotype and phenotype in children with progeroid syndromes are beginning to emerge...

..Large venous/lymphatic slow-flow malformations (SFM) can be associated with a coagulopathy resulting in thrombosis and haemorrhage. Such potentially life-threatening complications of SFM have been reported only rarely...

..Arg396His caused a dramatic loss of activity (3.3%). These observations demonstrate for the first time that TGM1 mutations can be associated with acral self-healing collodion baby, and expand the clinical spectrum of TGase-1 deficiency...

..The literature in 2009 also contains studies on Lyell syndrome, Kawasaki disease, vitiligo, psoriasis, pityriasis rubra pilaris, urticaria and alopecia areata...

..Vitiligo often starts in childhood. It is traditionally divided into segmental vitiligo and nonsegmental vitiligo. There are limited data regarding the clinical characteristics of both forms and no comparative study has been performed...

..The degree of response varied from a significant improvement to a complete resolution of hepatic lesions. Heart failure and hypothyroidism resolved, and hepatomegaly decreased. No side-effects of the drug were noted...

..KID syndrome is caused by autosomal dominant mutations in the connexin 26 gene (GJB2)...

..To establish whether the prognosis of bilateral facial capillary malformation (BFCM) is worse compared with that of unilateral facial port-wine stain...

..These pigmentary changes have not previously been reported in association with this syndrome...

..A few skins reactions to H1-antihistamines have been described in the literature. We report the first case of cutaneous drug eruption as fixed drug eruption with 2 antihistamines of the same chemical family: cetirizine and hydroxyzine...

..Due to its ability to enhance keratinocyte migration, LPA in blister fluid could, via the LPA1-R, play an important role in re-epithelialization occurring after blister rupture...

..Pseudoxanthoma elasticum is a rare inherited connective disorder, characterized by elastic tIssue degeneration. The onset of the symptoms usually occurs within the second decade of life...

..This work further supports the implication of premature corneodesmosomal cadherin degradation in the pathogenesis of NS and provides evidence for additional factors playing a role in disease expression...

..Ulcerated infantile hemangiomas (IH) are a therapeutic challenge. Propranolol, a nonselective beta-blocker, was recently introduced as a novel treatment for IH...

..To evaluate the characteristics of facial medial capillary malformations (CM), which differ from salmon patches by their wider extent, darker color, and incomplete resolution...

..Infantile hemangiomas (IHs) are the most-common soft-tissue tumors of infancy. We report the use of propranolol to control the growth phase of IHs...

..We alert physicians to possible papulonodular napkin dermatitis in infants wearing reusable diapers...

..It describes their structures, their specific functions and, when known, the mechanisms involved in the regulation of their expression. It also highlights their possible involvement in skin diseases...

..These 2 cases lend further support to the hypothesis of an association between severe long-term AD and CTCL...

..We report an unusual case of hydroa vaccinforme with purpuric lesions leading to fibrous scars and with important infiltration of neutrophils in the dermis of the photoinduced lesions...

..M119T mutation still suffered from severe EBS-DM, whereas the patient harboring the c.1246delC mutation has improved over time. These cases illustrate genotype-phenotype correlations and have implications for genetic counselling of EBS...