Skin biopsy is helpful in the diagnosis of hereditary fibrosing POIKiloderma with tendon contractures, myopathy and pulmonary fibrosis, due to FAM111B mutation

被引：3

作者：

Leclerc-Mercier, S. ^{[1
,2
]}

Mercier, S. ^{[3
,4
]}

Bellon, N. ^{[5
]}

Hadj-Rabia, S. ^{[5
]}

Bodemer, C. ^{[5
]}

Hoeger, P. ^{[6
,7
]}

Barbarot, S. ^{[8
]}

Fraitag, S. ^{[1
,2
]}

机构：

[1] Paris Ctr Univ, Necker Enfants Malades Hosp, Dept Pathol, Paris, France

[2] Paris Ctr Univ, Necker Enfants Malades Hosp, Reference Ctr Genodermatoses, MAGEC Ctr, Paris, France

[3] CHU Nantes, Ctr Reference Malad Neuromusculaires AOC, Serv Genet Med, Nantes, France

[4] Univ Nantes, CNRS, INSERM, Inst Thorax, Nantes, France

[5] Paris Ctr Univ, Necker Enfants Malades Hosp, Reference Ctr MAGEC, Dermatol Dept, Paris, France

[6] Catholic Childrens Hosp Wilhelmstift, Dept Paediat, Hamburg, Germany

[7] Catholic Childrens Hosp Wilhelmstift, Dept Paediat Dermagol, Hamburg, Germany

[8] CHU Nantes, Clin Dermatol, Hotel Dieu, Pl Alexis Ricordeau, Nantes, France

来源：

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | 2022年 / 36卷 / 06期

关键词：

D O I：

10.1111/jdv.17937

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：E439 / E441

页数：3

共 17 条

[1] Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation
Zhang, Zhen
Zhang, Jia
Chen, Fuying
Zheng, Luyao
Li, Huaguo
Liu, Ming
Li, Ming
Yao, Zhirong
JOURNAL OF DERMATOLOGY, 2019, 46 (11): : 1014 - 1018
[2] Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
Mercier, Sandra
Kuery, Sebastien
Salort-Campana, Emmanuelle
Magot, Armelle
Agbim, Uchenna
Besnard, Thomas
Bodak, Nathalie
Bou-Hanna, Chantal
Breheret, Flora
Brunelle, Perrine
Caillon, Florence
Chabrol, Brigitte
Cormier-Daire, Valerie
David, Albert
Eymard, Bruno
Faivre, Laurence
Figarella-Branger, Dominique
Fleurence, Emmanuelle
Ganapathi, Mythily
Gherardi, Romain
Goldenberg, Alice
Hamel, Antoine
Igual, Jeanine
Irvine, Alan D.
Israel-Biet, Dominique
Kannengiesser, Caroline
Laboisse, Christian
Le Caignec, Cedric
Mahe, Jean-Yves
Mallet, Stephanie
MacGowan, Stuart
McAleer, Maeve A.
McLean, Irwin
Meni, Cecile
Munnich, Arnold
Mussini, Jean-Marie
Nagy, Peter L.
Odel, Jeffrey
O'Regan, Grainne M.
Pereon, Yann
Perrier, Julie
Piard, Juliette
Puzenat, Eve
Sampson, Jacinda B.
Smith, Frances
Soufir, Nadem
Tanji, Kurenai
Thauvin, Christel
Ulane, Christina
Watson, Rosemarie M.
ORPHANET JOURNAL OF RARE DISEASES, 2015, 10
[3] Hereditary fibrosing poikiloderma with contractures, myopathy and pulmonary fibrosis: The role of mutations in FAM111B
Dereure, O.
ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 2014, 141 (6-7): : 478 - 479
[4] Mutation in FAM111B Causes Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy and Pulmonary Fibrosis
Chen, Fuying
Zheng, Luyao
Li, Yue
Li, Huaguo
Yao, Zhirong
Li, Ming
ACTA DERMATO-VENEREOLOGICA, 2019, 99 (07) : 695 - 696
[5] Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
Sandra Mercier
Sébastien Küry
Emmanuelle Salort-Campana
Armelle Magot
Uchenna Agbim
Thomas Besnard
Nathalie Bodak
Chantal Bou-Hanna
Flora Bréhéret
Perrine Brunelle
Florence Caillon
Brigitte Chabrol
Valérie Cormier-Daire
Albert David
Bruno Eymard
Laurence Faivre
Dominique Figarella-Branger
Emmanuelle Fleurence
Mythily Ganapathi
Romain Gherardi
Alice Goldenberg
Antoine Hamel
Jeanine Igual
Alan D. Irvine
Dominique Israël-Biet
Caroline Kannengiesser
Christian Laboisse
Cédric Le Caignec
Jean-Yves Mahé
Stéphanie Mallet
Stuart MacGowan
Maeve A. McAleer
Irwin McLean
Cécile Méni
Arnold Munnich
Jean-Marie Mussini
Peter L. Nagy
Jeffrey Odel
Grainne M. O’Regan
Yann Péréon
Julie Perrier
Juliette Piard
Eve Puzenat
Jacinda B. Sampson
Frances Smith
Nadem Soufir
Kurenai Tanji
Christel Thauvin
Christina Ulane
Rosemarie M. Watson
Orphanet Journal of Rare Diseases, 10
[6] Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
Mercier, Sandra
Kuery, Sebastien
Shaboodien, Gasnat
Houniet, Darren T.
Khumalo, Nonhlanhla P.
Bou-Hanna, Chantal
Bodak, Nathalie
Cormier-Daire, Valerie
David, Albert
Faivre, Laurence
Figarella-Branger, Dominique
Gherardi, Romain K.
Glen, Elise
Hamel, Antoine
Laboisse, Christian
Le Caignec, Cedric
Lindenbaum, Pierre
Magot, Armelle
Munnich, Arnold
Mussini, Jean-Marie
Pillay, Komala
Rahman, Thahira
Redon, Richard
Salort-Campana, Emmanuelle
Santibanez-Koref, Mauro
Thauvin, Christel
Barbarot, Sebastien
Keavney, Bernard
Bezieau, Stephane
Mayosi, Bongani M.
AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 93 (06) : 1100 - 1107
[7] Mutations in FAM111B cause Hereditary Fibrosing Poikiloderma with tendon contracture, myopathy and pulmonary fibrosis
Mercier, S.
Kuery, S.
Magot, A.
Bodak, N.
Bou-Hanna, C.
Cormier-Daire, V.
David, A.
Faivre, L.
Figarella-Branger, D.
Gherardi, R.
Goldenberg, A.
Hamel, A.
Igual, J.
Israel-Biet, D.
Kannengiesser, C.
Laboisse, C.
Le Caignec, C.
Munnich, A.
Mussini, J. M.
Piard, J.
Puzenat, E.
Salort-Campana, E.
Soufir, N.
Thauvin, C.
Pereon, Y.
Mayosi, B.
Barbarot, S.
Bezieau, S.
NEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 848 - 848
[8] Pulmonary fibrosis associated with hereditary fibrosing poikiloderma caused by FAM111B mutation: A case report
Sanchis-Borja, M.
Pastre, J.
Mercier, S.
Juvin, K.
Benattia, A.
Israel-Biet, D.
REVUE DES MALADIES RESPIRATOIRES, 2018, 35 (09) : 968 - 973
[9] CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP)
Sébastien Küry
Sandra Mercier
Gasnat Shaboodien
Thomas Besnard
Sébastien Barbarot
Nonhlanhla P Khumalo
Bongani M Mayosi
Stéphane Bézieau
European Journal of Human Genetics, 2016, 24 : 779 - 779
[10] CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP)
Kury, Sebastien
Mercier, Sandra
Shaboodien, Gasnat
Besnard, Thomas
Barbarot, Sebastien
Khumalo, Nonhlanhla P.
Mayosi, Bongani M.
Bezieau, Stephane
EUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (05) : E1 - E4

← 1 2 →