Genomes and Genes
- [Infantile acropustulosis]Juliette Mazereeuw-Hautier
Service de Dermatologie du Pr BONAFE, Hopital Rangueil, avenue Jean Poulhes, 31403 Toulouse Cedex 04
Presse Med 33:1352-4. 2004..It is a benign affection, progressing in flares, occasionally provoking severe pruritus. Treatments are disappointing, and the disease heals spontaneously after a few years...
- LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndromeEmmanuelle Bitoun
Wellcome Trust Centre for Human Genetics, University of Oxford, UK
Hum Mol Genet 12:2417-30. 2003..The identification of novel processed forms of LEKTI provides the basis for future functional and structural studies of fragments with physiological relevance...
- [Orange skin and xanthomas associated with lycopenaemia in a setting of type III dyslipoproteinemia]M Royer
Service de Dermatologie, Universite Paul Sabatier, CHU Toulouse Purpan, 1, Place du Dr Baylac, Toulouse, France
Ann Dermatol Venereol 136:42-5. 2009..To our knowledge, there have been no previous reports of yellow-orange discoloration of the skin and xanthomas associated with this disease...
- Factors influencing quality of life in patients with inherited ichthyosis: a qualitative study in adults using focus groupsJ Mazereeuw-Hautier
Reference Centre for Rare Skin Diseases, Dermatology Department, CHU Larrey, Paul Sabatier University, Toulouse, France
Br J Dermatol 166:646-8. 2012..There is limited information regarding quality of life in patients with inherited ichthyosis...
- Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patientsJ Mazereeuw-Hautier
Service de Dermatologie, Hopital Rangueil, TSA 50032, Toulouse, France
Br J Dermatol 156:1015-9. 2007..KID syndrome is caused by autosomal dominant mutations in the connexin 26 gene (GJB2)...
- Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literatureJ Mazereeuw-Hautier
Department of Dermatology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London, UK
Br J Dermatol 156:1308-14. 2007..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...
- Extensive venous/lymphatic malformations causing life-threatening haematological complicationsJ Mazereeuw-Hautier
Department of Dermatology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1 3JH, UK
Br J Dermatol 157:558-63. 2007..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...
- [Keratitis-ichthyosis-deafness (KID) syndrome]J Mazereeuw-Hautier
Service de Dermatologie, CHU Rangueil, 1, Avenue J Poulhès, TSA 50032, 31059 Toulouse cedex 09, France
Ann Dermatol Venereol 135:80-2; quiz 79, 83. 2008
- Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutationJ Mazereeuw-Hautier
Department of Dermatology, CHU Purpan, Toulouse 31024, France
Br J Dermatol 161:456-63. 2009..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...
- [What's new in pediatric dermatology?]J Mazereeuw-Hautier
Service de Dermatologie, CHU Purpan, Toulouse, France
Ann Dermatol Venereol 136:S426-35. 2009..The literature in 2009 also contains studies on Lyell syndrome, Kawasaki disease, vitiligo, psoriasis, pityriasis rubra pilaris, urticaria and alopecia areata...
- Segmental and nonsegmental childhood vitiligo has distinct clinical characteristics: a prospective observational studyJuliette Mazereeuw-Hautier
Dermatology Department, Universite Paul Sabatier, and Department of Dermatology, Toulouse, France
J Am Acad Dermatol 62:945-9. 2010..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...
- Efficacy of propranolol in hepatic infantile hemangiomas with diffuse neonatal hemangiomatosisJuliette Mazereeuw-Hautier
Dermatology Department, Paul Sabatier University and the Department of Dermatology, Children s Hospital, Toulouse, France
J Pediatr 157:340-2. 2010..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...
- Bilateral facial capillary malformation associated with eye and brain abnormalitiesJuliette Mazereeuw-Hautier
Paediatric Dermatology Department, Great Ormond Street Hospital for Children NHS Trust, London, England
Arch Dermatol 142:994-8. 2006..To establish whether the prognosis of bilateral facial capillary malformation (BFCM) is worse compared with that of unilateral facial port-wine stain...
- Sternal malformation/vascular dysplasia syndrome with linear hypopigmentationJ Mazereeuw-Hautier
Department of Dermatology, Great Ormond Street Hospital, London WC1N 3JH, UK
Br J Dermatol 155:192-4. 2006..These pigmentary changes have not previously been reported in association with this syndrome...
- [Cutaneous drug eruption with two antihistaminic drugs of a same chemical family: cetirizine and hydroxyzine]M N Assouère
Service de Dermatologie, Hopital de Rangueil, 1, avenue Jean Poulhes, 31403 Toulouse Cedex 4, France
Ann Dermatol Venereol 129:1295-8. 2002..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...
- [Early pseudoxanthoma elasticum with severe cardiovascular involvement]L Barrie
Service de Dermatologie, CHU Rangueil, 1, avenue Jean Poulhes, 31403 Toulouse Cedex 4
Ann Dermatol Venereol 131:275-8. 2004..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...
- Acantholytic dyskeratotic epidermal nevus: a rare histopathologic featureJ Mazereeuw-Hautier
Service de Dermatologie du Professeur Bonafé, Hopital Rangueil, Toulouse, France
J Cutan Pathol 29:52-4. 2002..Different histologic features have been seen and, at times, acantholytic dyskeratosis has been observed. We report a new case of acantholytic dyskeratotic epidermal nevus...
- [Pricking blisters: is it effective?]J Mazereeuw-Hautier
Service de Dermatologie, CHU Rangueil, 1, avenue Jean Poulhes, 31403 Toulouse Cedex 4
Ann Dermatol Venereol 131:1101-2. 2004
- Production of lysophosphatidic acid in blister fluid: involvement of a lysophospholipase D activityJuliette Mazereeuw-Hautier
Service de Dermatologie, Hopital Rangueil, Toulouse Cedex, France
J Invest Dermatol 125:421-7. 2005..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...
- Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndromePascal Descargues
Department of Functional Genetics of Epithelial Diseases, INSERM U563, Toulouse Cedex, France
J Invest Dermatol 126:1622-32. 2006..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...
- Propranolol for treatment of ulcerated infantile hemangiomasMélanie Saint-Jean
Department of Dermatology, Hotel Dieu, 44093 Nantes, France
J Am Acad Dermatol 64:827-32. 2011..Ulcerated infantile hemangiomas (IH) are a therapeutic challenge. Propranolol, a nonselective beta-blocker, was recently introduced as a novel treatment for IH...
- Burden of inherited ichthyosis: a French national surveyIsabelle Dreyfus
Reference Centre for Rare Skin Diseases, Dermatology Department, CHU Toulouse, Larrey Hospital, FR 31059 Toulouse, France
Acta Derm Venereol 95:326-8. 2015..The patient's economical resources were also heavily impacted by ichthyosis with important out-of-pocket expenses. ..
- Prevalence of inherited ichthyosis in France: a study using capture-recapture methodIsabelle Dreyfus
Reference Centre for Rare Skin Diseases, Dermatology Department, Larrey Hospital, CHU Toulouse, Toulouse, France
Orphanet J Rare Dis 9:1. 2014..Epidemiology remains poorly described. This study aims to evaluate the prevalence of inherited ichthyosis (excluding very mild forms) and its different clinical forms in France...
- Re-emergence of papulonodular napkin dermatitis with use of reusable diapers: report of 5 casesAnnabel Maruani
Department of Dermatology, University Hospital, Francois Rabelais University, Trousseau Hospital, 37044 Tours, France
Eur J Dermatol 23:246-9. 2013..We alert physicians to possible papulonodular napkin dermatitis in infants wearing reusable diapers...
- IQoL-32: a new ichthyosis-specific measure of quality of lifeIsabelle Dreyfus
Reference Center for Rare Skin Diseases, Dermatology Department, Larrey Hospital, Centre Hospitalo Universitaire Toulouse, Paul Sabatier University, Toulouse, France
J Am Acad Dermatol 69:82-7. 2013..Inherited ichthyoses are associated with impaired quality of life (QoL)...
- Propranolol for severe infantile hemangiomas: follow-up reportVeronique Sans
National Reference Center for Rare Skin Diseases, Children s Hospital, Bordeaux, France
Pediatrics 124:e423-31. 2009..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...
- Medial fronto-facial capillary malformationsLaura Sillard
Department of Dermatology, Hopital Archet 2, University Hospital of Nice, France
J Pediatr 158:836-41. 2011..To evaluate the characteristics of facial medial capillary malformations (CM), which differ from salmon patches by their wider extent, darker color, and incomplete resolution...
- Update on the epidermal differentiation complexJulie Henry
UMR5165 CNRS, U1056 INSERM, Toulouse, France
Front Biosci (Landmark Ed) 17:1517-32. 2012..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...
- Cutaneous T cell lymphoma complicating severe atopic dermatitis. Is making a diagnosis the main challenge?Nicolas Meyer
Department of Dermatology, University Paul Sabatier and Toulouse University Hospital, Toulouse Cedex 9, France
Dermatology 218:168-71. 2009..These 2 cases lend further support to the hypothesis of an association between severe long-term AD and CTCL...
- Risk of lymphoma in patients with atopic dermatitis and the role of topical treatment: A systematic review and meta-analysisLaureline Legendre
Department of Dermatology, Paul Sabatier University, Toulouse, France
J Am Acad Dermatol 72:992-1002. 2015..There is controversy regarding a potential increased risk of lymphoma in patients with atopic dermatitis (AD)...
- Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 geneMatthias Titeux
INSERM, U563, Toulouse, France
J Invest Dermatol 126:773-6. 2006..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...
- Purpuric lesions induced by UVA1 spectrum (340-400 nm) phototesting in an adult with persistent and severe hydroa vacciniformeCristina Bulai Livideanu
Department of Dermatology, Paul Sabatier University, Larrey University Hospital, Toulouse, France
Photodermatol Photoimmunol Photomed 26:104-6. 2010..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...