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Article ; Online: Melanoma in xeroderma pigmentosum type C children: Overrepresentation of desmoplastic type?

Leclerc-Mercier, Stéphanie / Bodemer, Christine / Michel, Benoit / Soufir, Nadem / Bourdon-Lanoy, Eva / Frassatti-Biaggi, Annonciade / Delanoe, Philippe / Fraitag, Sylvie / Hadj-Rabia, Smail

Journal of the American Academy of Dermatology

2015 Volume 72, Issue 6, Page(s) e173–6

MeSH term(s)	Adolescent ; Adult ; Age Factors ; Biopsy, Needle ; Child ; Female ; Humans ; Immunohistochemistry ; Incidence ; Male ; Melanoma/epidemiology ; Melanoma/pathology ; Melanoma/surgery ; Neoplasm Invasiveness/pathology ; Neoplasm Staging ; Prognosis ; Risk Assessment ; Sex Factors ; Skin Neoplasms/epidemiology ; Skin Neoplasms/pathology ; Skin Neoplasms/surgery ; Xeroderma Pigmentosum/epidemiology ; Xeroderma Pigmentosum/pathology ; Xeroderma Pigmentosum/surgery
Language	English
Publishing date	2015-06
Publishing country	United States
Document type	Comparative Study ; Letter
ZDB-ID	603641-7
ISSN	1097-6787 ; 0190-9622
ISSN (online)	1097-6787
ISSN	0190-9622
DOI	10.1016/j.jaad.2015.02.1124
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Article ; Online: Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C.

Hadj-Rabia, S / Oriot, D / Soufir, N / Dufresne, H / Bourrat, E / Mallet, S / Poulhalon, N / Ezzedine, K / Ezzedine, E / Grandchamp, B / Taïeb, A / Catteau, B / Sarasin, A / Bodemer, C

The British journal of dermatology

2013 Volume 168, Issue 5, Page(s) 1109–1113

Abstract: Background: Xeroderma pigmentosum type C (XP-C) is a rare, autosomal, recessive condition ... of patients with XP-C.: Methods: All patients with XP-C, which was confirmed genetically or by unscheduled ... aspects of XP-C. Patients with XP-C are at risk of developing pyogenic granulomas, desmoplastic melanomas ...

Abstract	Background: Xeroderma pigmentosum type C (XP-C) is a rare, autosomal, recessive condition characterized by the association of various clinical manifestations mostly involving the skin and eyes. Objectives: To evaluate the clinical manifestations in a homogeneous, genetically characterized cohort of patients with XP-C. Methods: All patients with XP-C, which was confirmed genetically or by unscheduled DNA synthesis, from the registry of our department and from the French association of patients 'Les Enfants de la Lune' were contacted. During a planned consultation, clinical information was collected using a standardized case-record form. Results: In total, 31 patients were seen. The mean age at diagnosis was 2.95 years; skin symptoms started at a mean age of 1.49 years. Among the patients, 52% had relatively short stature, with a height-for-weight z-score below -1 SD; 62% showed pyramidal syndrome and 45% had photophobia and/or conjunctivitis. Four patients had several pyogenic granulomas. Twenty-four patients (77%) had skin cancer. The mean age of onset of the first skin cancer was 4.76 years (range 2-14.5 years). Basal-cell carcinoma was the most frequent cancer. Melanomas were rare and mostly desmoplastic. Multinodular thyroid was the most frequent internal tumour. Conclusions: Our data highlight several new aspects of XP-C. Patients with XP-C are at risk of developing pyogenic granulomas, desmoplastic melanomas and multinodular thyroid. Involvement of the central nervous system is frequent, but its mechanism remains unclear. The relatively short stature of the patients needs further investigation in order to be explained. XP-C is not only a cancer-prone disorder but is also a polysystemic disorder.
MeSH term(s)	Adolescent ; Carcinoma, Basal Cell/diagnosis ; Carcinoma, Basal Cell/genetics ; Child ; Child, Preschool ; Cohort Studies ; Female ; France ; Granuloma, Pyogenic/diagnosis ; Granuloma, Pyogenic/genetics ; Humans ; Male ; Melanoma/diagnosis ; Melanoma/genetics ; Skin Neoplasms/diagnosis ; Skin Neoplasms/genetics ; Thyroid Neoplasms/diagnosis ; Thyroid Neoplasms/genetics ; Xeroderma Pigmentosum/diagnosis ; Xeroderma Pigmentosum/genetics
Language	English
Publishing date	2013-05
Publishing country	England
Document type	Journal Article
ZDB-ID	80076-4
ISSN	1365-2133 ; 0007-0963
ISSN (online)	1365-2133
ISSN	0007-0963
DOI	10.1111/bjd.12183
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Article ; Online: Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.

Bodemer, Christine / Hermine, Olivier / Palmérini, Fabienne / Yang, Ying / Grandpeix-Guyodo, Catherine / Leventhal, Phillip S / Hadj-Rabia, Smail / Nasca, Laurent / Georgin-Lavialle, Sophie / Cohen-Akenine, Annick / Launay, Jean-Marie / Barete, Stéphane / Feger, Frédéric / Arock, Michel / Catteau, Benoît / Sans, Beatrix / Stalder, Jean François / Skowron, Francois / Thomas, Luc /

Lorette, Gérard / Plantin, Patrice / Bordigoni, Pierre / Lortholary, Olivier / de Prost, Yves / Moussy, Alain / Sobol, Hagay / Dubreuil, Patrice

The Journal of investigative dermatology

2010 Volume 130, Issue 3, Page(s) 804–815

Abstract: Adult mastocytosis is an incurable clonal disease associated with c-KIT mutations, mostly in exon ... primarily on codon 816 mutations, with various results. In this study, we analyzed the entire c-KIT sequence ... of the mutations were located in the fifth Ig loop of c-KIT's extracellular domain, which is encoded by exons 8 and ...

Abstract	Adult mastocytosis is an incurable clonal disease associated with c-KIT mutations, mostly in exon 17 (D816V). In contrast, pediatric mastocytosis often spontaneously regresses and is considered a reactive disease. Previous studies on childhood mastocytosis assessed only a few patients and focused primarily on codon 816 mutations, with various results. In this study, we analyzed the entire c-KIT sequence from cutaneous biopsies of 50 children with mastocytosis (ages 0-16 years). A mutation of codon 816 (exon 17) was found in 42% of cases, and mutations outside exon 17 were observed in 44%. Unexpectedly, half of the mutations were located in the fifth Ig loop of c-KIT's extracellular domain, which is encoded by exons 8 and 9. All mutations identified in this study were somatic and caused a constitutive activation of c-KIT. There was no clear phenotype-genotype correlation, no clear relationship between the mutations and familial versus spontaneous disease, and no significant change in the relative expression of the c-KIT GNNK+ and GNNK isoforms. These findings strongly support the idea that, although pediatric mastocytosis can spontaneously regress, it is a clonal disease most commonly associated with activating mutations in c-KIT.
MeSH term(s)	Adolescent ; Age of Onset ; Animals ; Biopsy ; COS Cells ; Cercopithecus aethiops ; Child ; Child, Preschool ; Clone Cells ; Exons/genetics ; Female ; Genomics ; Genotype ; Humans ; Infant ; Infant, Newborn ; Male ; Mast Cells/pathology ; Mast Cells/physiology ; Mastocytosis, Cutaneous/genetics ; Mastocytosis, Cutaneous/pathology ; Phenotype ; Point Mutation ; Proto-Oncogene Proteins c-kit/genetics
Chemical Substances	Proto-Oncogene Proteins c-kit (EC 2.7.10.1)
Language	English
Publishing date	2010-03
Publishing country	United States
Document type	Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	80136-7
ISSN	1523-1747 ; 0022-202X
ISSN (online)	1523-1747
ISSN	0022-202X
DOI	10.1038/jid.2009.281
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Article: Rapamycin inhibits growth and survival of D816V-mutated c-kit mast cells.

Gabillot-Carré, Marion / Lepelletier, Yves / Humbert, Martine / de Sepuvelda, Paulo / Hamouda, Nadine Ben / Zappulla, Jean Pierre / Liblau, Roland / Ribadeau-Dumas, Antoine / Machavoine, François / Letard, Sébastien / Baude, Cédric / Hermant, Aurélie / Yang, Ying / Vargaftig, Jacques / Bodemer, Christine / Morelon, Emmanuel / Lortholary, Olivier / Recher, Christian / Laurent, Guy /

Dy, Michel / Arock, Michel / Dubreuil, Patrice / Hermine, Olivier

Blood

2006 Volume 108, Issue 3, Page(s) 1065–1072

Abstract: Two classes of oncogenic mutations of the c-kit tyrosine kinase have been described ...

Abstract	Two classes of oncogenic mutations of the c-kit tyrosine kinase have been described: the juxtamembrane domain V560G mutation, which is preferentially found in gastrointestinal stromal tumors (GISTs), and the kinase domain D816V mutation, which is highly representative of systemic mastocytosis (SM). Here we show that both mutations constitutively activate the mammalian target of rapamycin (mTOR) signaling pathway. Surprisingly, the mTOR inhibitor rapamycin induces only apoptosis in HMC-1 cells bearing the D816V but not the V560G mutation. In support of this unexpected selectivity, rapamycin inhibits the phosphorylation of 4E-BP1, a downstream substrate of the mTOR pathway, but only in D816V HMC-1 cells. Importantly, D816V mast cells isolated from SM patients or from transgenic mice are sensitive to rapamycin whereas normal human or mouse mast cells are not. Thus, rapamycin inhibition appears specific to the D816V mutation. At present there is no effective cure for SM patients with the D816V mutation. The data presented here provide a rationale to test whether rapamycin could be a possible treatment for SM and other hematologic malignancies with the D816V mutation.
MeSH term(s)	Animals ; Apoptosis/drug effects ; Cell Proliferation/drug effects ; Cell Survival/drug effects ; Humans ; Mast Cells/drug effects ; Mast Cells/pathology ; Mastocytosis, Systemic/drug therapy ; Mastocytosis, Systemic/genetics ; Mastocytosis, Systemic/pathology ; Mice ; Mice, Transgenic ; Mutation, Missense ; Pharmacogenetics ; Protein Kinases/metabolism ; Proto-Oncogene Proteins c-kit/genetics ; Signal Transduction ; Sirolimus/pharmacology ; TOR Serine-Threonine Kinases ; Tumor Cells, Cultured
Chemical Substances	Protein Kinases (EC 2.7.-) ; MTOR protein, human (EC 2.7.1.1) ; TOR Serine-Threonine Kinases (EC 2.7.1.1) ; mTOR protein, mouse (EC 2.7.1.1) ; Proto-Oncogene Proteins c-kit (EC 2.7.10.1) ; Sirolimus (W36ZG6FT64)
Language	English
Publishing date	2006-04-04
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood-2005-06-2433
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Article ; Online: A cross-sectional study of erythromelalgia in patients with pachyonychia congenita.

McCarthy, Rebecca L / Schwartz, Janice / Oldham, Jaimie / Bodemer, Christine / Greco, Celine / Hovnanian, Alain / Hansen, C David / O'Toole, Edel A

The British journal of dermatology

2024

Language	English
Publishing date	2024-04-08
Publishing country	England
Document type	Journal Article
ZDB-ID	80076-4
ISSN	1365-2133 ; 0007-0963
ISSN (online)	1365-2133
ISSN	0007-0963
DOI	10.1093/bjd/ljae143
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Article ; Online: The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score.

Dufresne, Helene / Maincent, Oriane / Taieb, Charles / Bodemer, Christine / Hadj-Rabia, Smail

Acta dermato-venereologica

2023 Volume 103, Page(s) adv5203

Abstract: Ectodermal dysplasias are genetic conditions affecting the development and/or homeostasis of 2 or more ectodermal derivatives, including hair, teeth, nails, and certain glands. No tool is available to assess the burden of ectodermal dysplasias and its ... ...

Abstract	Ectodermal dysplasias are genetic conditions affecting the development and/or homeostasis of 2 or more ectodermal derivatives, including hair, teeth, nails, and certain glands. No tool is available to assess the burden of ectodermal dysplasias and its multidimensional impact on patients and their families. This study developed and validated a familial/parental 19-item burden questionnaire designed specifically for ectodermal dysplasias. Each group of questions was linked to 1 of the following dimensions: (i) Impact of the disease on social life and hobbies; (ii) Future prospects; (iii) Restraint of the disease on outdoor activities; (iv) Financial burden of the disease; (v) Acceptance of the disease. Cronbach's alpha was 0.91 for the entire Ectodermal Dysplasias-Burden of Disease (ED-BD) scale, confirming excellent internal coherence. Intradimensional coherences all demonstrated excellent reliability (α > 0.76). The ED-BD questionnaire was highly correlated with the Short Form-12 and Psychological General Well Being Index validated questionnaires. Cultural and linguistic validation in US English was conducted. Development and validation of the questionnaire was based on data from patients with the 2 main ectodermal dysplasias subtypes. This ED-BD questionnaire represents the first specific assessment tool for evaluating the familial/parental burden of ectodermal dysplasias.
MeSH term(s)	Humans ; Reproducibility of Results ; Ectodermal Dysplasia/diagnosis ; Ectodermal Dysplasia/genetics ; Cost of Illness ; Hair ; Parents
Language	English
Publishing date	2023-08-30
Publishing country	Sweden
Document type	Journal Article
ZDB-ID	80007-7
ISSN	1651-2057 ; 0001-5555
ISSN (online)	1651-2057
ISSN	0001-5555
DOI	10.2340/actadv.v103.5203
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Article: Incontinentia pigmenti and hypomelanosis of Ito.

Bodemer, Christine

Handbook of clinical neurology

2013 Volume 111, Page(s) 341–347

Abstract: Incontinentia pigmenti (IP) is a rare X-linked dominant neurocutaneous disorder affecting ectodermal tissue: skin, eyes, central nervous system, hair, nails, and teeth. It is usually lethal for males in utero. The involved gene is NEMO, an essential ... ...

Abstract	Incontinentia pigmenti (IP) is a rare X-linked dominant neurocutaneous disorder affecting ectodermal tissue: skin, eyes, central nervous system, hair, nails, and teeth. It is usually lethal for males in utero. The involved gene is NEMO, an essential component of the nuclear factor-kappa B (NF-κB) signaling pathway. Skin lesions are highly diagnostic, occurring in neonates, with a particular distribution on Blaschko lines. The severity of the disease is related to ocular and neurological impairment. The hallmark of ocular IP is retinal vasculopathy including peripheral retinal vascular nonperfusion, macular infarction and neovascularization, and preretinal neovascularization. CNS involvement consists of seizures, mental retardation, hemiparesis, spasticity, microcephaly, cerebellar ataxia, and coma. It often occurs in neonates. Some patients have persistent pharmacoresistant seizures throughout life. MRI findings consist essentially in: white-matter lesions; scattered cortical neuronal necrosis; multiple cerebral infarctions; cerebral atrophy, hypoplasia of the corpus callosum, encephalomalacia and neuronal heterotopia. A predominant role of vascular occlusive phenomena in small vessels is highly suspected. In fact several intricate mechanisms could be discussed: vascular, inflammatory, developmental mechanisms. Their role and predictive factors of IP CNS involvement in neonatal IP need to be better understood to identify effective innovative therapies. Hypomelanosis of Ito can occur in the neonate, infancy, or childhood, be isolated or diffuse, often following the Blaschko lines, and can fade in childhood or adulthood. It is due to reduced melanin in the epidermis. Eye, central nervous (mental retardation, epilepsy, language disabilities, motor system dysfunction, psychiatric symptoms including autism - with frequent cortical malformations including hemimegalencephaly and white matter involvement), and musculoskeletal systems can also be affected. Mosaicism with various chromosomal rearrangements has been reported.
MeSH term(s)	Brain/pathology ; Female ; History, 20th Century ; Humans ; Hypopigmentation/history ; Incontinentia Pigmenti/genetics ; Incontinentia Pigmenti/pathology ; Incontinentia Pigmenti/therapy ; Infant ; Male ; Skin/pathology
Language	English
Publishing date	2013
Publishing country	Netherlands
Document type	Historical Article ; Journal Article ; Review
ISSN	0072-9752
ISSN	0072-9752
DOI	10.1016/B978-0-444-52891-9.00040-3
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Article: French national protocol for the management of congenital ichthyosis.

Severino-Freire, M / Granier Tournier, C / Chiaverini, C / Audouze, A / Morice-Picard, F / Texier, H / Dreyfus, I / Bing-Lecointe, A-C / Mallet, S / Bodemer, C / Fischer, J / Jonca, N / Mazereeuw-Hautier, J

Annales de dermatologie et de venereologie

2024 Volume 151, Issue 1, Page(s) 103247

Abstract: Congenital ichthyoses (CI) comprise a heterogeneous group of monogenic genetic skin diseases characterized by diffuse scaling, often associated with skin inflammation. Diagnosis of the individual form of ichthyosis is complex and is guided by clinical ... ...

Abstract	Congenital ichthyoses (CI) comprise a heterogeneous group of monogenic genetic skin diseases characterized by diffuse scaling, often associated with skin inflammation. Diagnosis of the individual form of ichthyosis is complex and is guided by clinical expertise. CI usually has a major impact on quality of life (QOL) and thus requires lifelong treatment. To date, there are no curative therapies, although various symptomatic treatment options exist. The present protocol for the management of CI has been drawn up in accordance with the recommendations published in 2012 by the French National Authority for Health, based on a literature review, with the help and validation of members of the French network for rare skin diseases (FIMARAD). It provides a summary of evidence and expert-based recommendations and is intended to help clinicians with the management of these rare and often complex diseases.
MeSH term(s)	Humans ; Quality of Life ; Ichthyosis, Lamellar/diagnosis ; Ichthyosis, Lamellar/genetics ; Ichthyosis, Lamellar/therapy ; Ichthyosis/diagnosis ; Ichthyosis/genetics ; Ichthyosis/therapy ; Skin ; Diagnosis, Differential ; Review Literature as Topic
Language	English
Publishing date	2024-03-20
Publishing country	France
Document type	Practice Guideline
ZDB-ID	391805-1
ISSN	2214-5451 ; 0151-9638
ISSN (online)	2214-5451
ISSN	0151-9638
DOI	10.1016/j.annder.2024.103247
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Article: Travail social et génodermatoses à début pédiatrique : pratiques et spécificités.

Dufresne, H / Hadj-Rabia, S / Bodemer, C

Annales de dermatologie et de venereologie

2020 Volume 147, Issue 8-9, Page(s) 577–581

Title translation	Paediatric social work and genodermatosis: Practices and specificities.
MeSH term(s)	Child ; Humans ; Social Work
Language	French
Publishing date	2020-04-20
Publishing country	France
Document type	Journal Article
ZDB-ID	391805-1
ISSN	2214-5451 ; 0151-9638
ISSN (online)	2214-5451
ISSN	0151-9638
DOI	10.1016/j.annder.2020.02.012
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Article ; Online: Hand surgery in recessive dystrophic epidermolysis bullosa: Our experience with dermal substitutes.

Abboud, Loubna / Leclerc-Mercier, Stéphanie / Bodemer, Christine / Guéro, Stéphane

Journal of plastic, reconstructive & aesthetic surgery : JPRAS

2021 Volume 75, Issue 1, Page(s) 314–324

Abstract: Background: 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.: Patients ... ...

Abstract	Background: 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. Patients and methods: 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. Results: 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. Conclusion: 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.
MeSH term(s)	Epidermolysis Bullosa Dystrophica/surgery ; Hand/surgery ; Hand Deformities/surgery ; Humans ; Skin Transplantation/methods ; Thumb/surgery
Language	English
Publishing date	2021-06-15
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2217750-4
ISSN	1878-0539 ; 1748-6815 ; 0007-1226
ISSN (online)	1878-0539
ISSN	1748-6815 ; 0007-1226
DOI	10.1016/j.bjps.2021.05.056
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