Infantile Systemic Hyalinosis - Report of Two Cases with Identification of a Novel Gene Mutation

被引：0

作者：

Dhar, Sandipan ^{[1
]}

Agarwal, Rashmi ^{[4
]}

Srinivas, Sahana M. ^{[5
]}

Dhar, Subhra ^{[3
]}

Ghosh, Apurba ^{[2
]}

机构：

[1] Inst Child Hlth, Dept Paediat Dermatol, Kolkata, W Bengal, India

[2] Inst Child Hlth, Dept Paediat Med, Kolkata, W Bengal, India

[3] Wizdermpath Lab, Dept Pathol, Kolkata, W Bengal, India

[4] Cutis Acad Cutaneous Sci, Dept Paediat Dermatol, Bengaluru, Karnataka, India

[5] Indira Gandhi Inst Child Hlth, Dept Paediat Dermatol, Bengaluru, Karnataka, India

来源：

INDIAN JOURNAL OF PAEDIATRIC DERMATOLOGY | 2022年 / 23卷 / 02期

关键词：

Child; hyaline fibromatosis syndrome; infantile systemic hyalinosis; juvenile hyaline fibromatosis; FIBROMATOSIS;

D O I：

10.4103/ijpd.ijpd_57_21

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Infantile systemic hyalinosis (ISH; MIM #236490) and juvenile hyaline fibromatosis (MIM #228600) represent two spectrums of the rare autosomal recessive disorder, the hyaline fibromatosis syndrome caused by mutations in ANTXR2/CMG2 encoding capillary morphogenesis protein-2. Herein, we report two cases of ISH with different clinical presentations confirmed by CMG2 gene mutations. Homogenous 79 bp deletion of the entire exon 11 reported in one of the cases has not been reported previously.

引用

页码：126 / 128

页数：3

共 12 条

[1] CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome [J].

Burgi, Jerome ;

Kunz, Beatrice ;

Abrami, Laurence ;

Deuquet, Julie ;

Piersigilli, Alessandra ;

Scholl-Buergi, Sabine ;

Lausch, Ekkehart ;

Unger, Sheila ;

Superti-Furga, Andrea ;

Bonaldo, Paolo ;

van der Goot, F. Gisou .

NATURE COMMUNICATIONS, 2017, 8

[2] Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome [J].

Cozma, Claudia ;

Hovakimyan, Marina ;

Iurascu, Marius-Ionut ;

Makhseed, Nawal ;

Selim, Laila A. ;

Alhashem, Amal M. ;

Ben-Omran, Tawfeg ;

Mahmoud, Iman G. ;

Al Menabawy, Nihal M. ;

Al-Mureikhi, Mariam ;

Martin, Magi ;

Demuth, Laura ;

Yueksel, Zafer ;

Beetz, Christian ;

Bauer, Peter ;

Rolfs, Arndt .

ORPHANET JOURNAL OF RARE DISEASES, 2019, 14 (01)

[3] Identification of 2 Novel ANTXR2 Mutations in Patients With Hyaline Fibromatosis Syndrome and Proposal of a Modified Grading System [J].

Denadai, Rafael ;

Raposo-Amaral, Cassio E. ;

Bertola, Debora ;

Kim, Chong ;

Alonso, Nivaldo ;

Hart, Thomas ;

Han, Sangwoo ;

Stelini, Rafael F. ;

Buzzo, Celso L. ;

Raposo-Amaral, Cesar A. ;

Hart, P. Suzanne .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (04) :732-742

[4] The dark sides of capillary morphogenesis gene 2 [J].

Deuquet, Julie ;

Lausch, Ekkehart ;

Superti-Furga, Andrea ;

van der Goot, F. Gisou .

EMBO JOURNAL, 2012, 31 (01) :3-13

[5] Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors [J].

Deuquet, Julie ;

Lausch, Ekkehart ;

Guex, Nicolas ;

Abrami, Laurence ;

Salvi, Suzanne ;

Lakkaraju, Asvin ;

Ramirez, Maria Celeste M. ;

Martignetti, John A. ;

Rokicki, Dariusz ;

Bonafe, Luisa ;

Superti-Furga, Andrea ;

van der Goot, Francoise G. .

EMBO MOLECULAR MEDICINE, 2011, 3 (04) :208-221

[6] Gingival Hyperplasia Associated With Juvenile Hyaline Fibromatosis: A Case Report and Review of the Literature [J].

El-Maaytah, Mohammed ;

Jerjes, Waseem ;

Shah, Priya ;

Upile, Tahwinder ;

Murphy, C. ;

Ayliffe, Peter .

JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY, 2010, 68 (10) :2604-2608

[7] Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation [J].

Haerter, Bettina ;

Benedicenti, Francesco ;

Karall, Daniela ;

Lausch, Ekkehard ;

Schweigmann, Gisela ;

Stanzial, Franco ;

Superti-Furga, Andrea ;

Scholl-Buergi, Sabine .

MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (06)

[8] Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis [J].

Hanks, S ;

Adams, S ;

Douglas, J ;

Arbour, L ;

Atherton, DJ ;

Balci, S ;

Bode, H ;

Campbell, ME ;

Feingold, M ;

Keser, G ;

Kleijer, W ;

Mancini, G ;

McGrath, JA ;

Muntoni, F ;

Nanda, A ;

Teare, MD ;

Warman, M ;

Pope, FM ;

Superti-Furga, A ;

Futreal, PA ;

Rahman, N .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (04) :791-800

[9] 2 CASES OF JUVENILE HYALIN FIBROMATOSIS - SOME HISTOLOGICAL, ELECTRON-MICROSCOPIC, AND TISSUE-CULTURE OBSERVATIONS [J].

KITANO, Y ;

HORIKI, M ;

AOKI, T ;

SAGAMI, S .

ARCHIVES OF DERMATOLOGY, 1972, 106 (06) :877-883

[10]

Murray J, 1873, Med Chir Trans, V56, P235

← 1 2 →