Juvenile hyaline fibromatosis in siblings

被引：2
作者：
Ravikumar, Valkodai Ramanathan [1 ]
Ramamoorthi, Ram Ganesh Veerappan [1 ]
Manisankar, Sivakumar [1 ]
机构：
[1] G Kuppuswamy Naidu Mem Hosp, Dept Pediat, PB 6327,Nethaji Rd, Coimbatore 641037, Tamil Nadu, India
来源：
INDIAN JOURNAL OF PATHOLOGY AND MICROBIOLOGY | 2019年 / 62卷 / 02期
关键词：
Facial nodules; gingival hypertrophy; joint contracture; juvenile hyaline fibromatosis; juvenile systemic hyalinosis;
D O I：
10.4103/IJPM.IJPM_76_17
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
Background: Juvenile Hyaline Fibromatosis is a rare autosomal recessive connective tissue disorder. Case Characteristics: Three year old girl with multiple facial nodules, gingival hypertrophy and multiple joint contractures. Her sibling, male child also had similar findings which was progressive and he died at 2 years. Outcome: Nodule biopsy showed extensively hyalinised dermis with PAS positivity. Message: Juvenile Hyaline Fibromatosis is a differential diagnosis for children presenting with multiple nodular lesions.
引用
收藏
页码：300 / 302
页数：3
相关论文
共 50 条
[31]   Juvenile hyaline fibromatosis: Clinical heterogeneity in three patients [J].
Mancini, GMS ;
Stojanov, L ;
Willemsen, R ;
Kleijer, WJ ;
Huijmans, JGM ;
van Diggelen, OP ;
de Klerk, JBC ;
Vuzevski, VD ;
Oranje, AP .
DERMATOLOGY, 1999, 198 (01) :18-25
[32]   Recurrent Giant Subcutaneous Tumor in Juvenile Hyaline Fibromatosis [J].
Wang, Xinyao ;
Wei, Jia ;
Wang, Xiaoqiang .
JOURNAL OF CRANIOFACIAL SURGERY, 2025, 36 (04) :e473-e475
[33]   Juvenile hyaline fibromatosis: A clinicopathological study of five cases [J].
Song, Lingying ;
Yang, Jihua ;
Liu, Jiahan ;
Wang, Jian .
ANNALS OF DIAGNOSTIC PATHOLOGY, 2021, 55
[34]   Differential glycosaminoglycan expression and hyaluronan homeostasis in juvenile hyaline fibromatosis [J].
Tzellos, Thrasivolilos G. ;
Dionyssopoulos, Alexander ;
Klagas, Ioannis ;
Karakiulakis, George ;
Lazaridis, Lambis ;
Papakonstantinou, Eleni .
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2009, 61 (04) :629-638
[35]   Differential expression of matrix metalloproteinases and proteoglycans in Juvenile Hyaline Fibromatosis [J].
Tzellos, Thrasivoulos G. ;
Batzios, Spyros P. ;
Dionyssopoulos, Alexander ;
Karakiulakis, George ;
Papakonstantinou, Eleni .
JOURNAL OF DERMATOLOGICAL SCIENCE, 2011, 61 (02) :94-100
[36]   Management of airway obstruction in a severe case of juvenile hyaline fibromatosis [J].
Karabulut, AB ;
Özden, BÇ ;
Önel, D ;
Demiryont, M .
ANNALS OF PLASTIC SURGERY, 2005, 54 (03) :328-330
[37]   Juvenile Hyaline Fibromatosis: A 10-year Follow-up [J].
Baltacioglu, Esra ;
Guzeldemir, Esra ;
Sukuroglu, Erkan ;
Yildiz, Kadriye ;
Yuva, Pinar ;
Aydin, Guven ;
Karacal, Naci .
INDIAN JOURNAL OF DERMATOLOGY, 2017, 62 (02) :210-212
[38]   Juvenile hyaline fibromatosis: impaired collagen metabolism in human skin fibroblasts [J].
Breier, F ;
FangKircher, S ;
Wolff, K ;
Jurecka, W .
ARCHIVES OF DISEASE IN CHILDHOOD, 1997, 77 (05) :436-440
[39]   The diagnostic challenge of juvenile hyaline fibromatosis, a case report with literature reviews [J].
Ahmed, Ronak S. ;
Ali, Alaa A. ;
Abdullah, Hiwa O. ;
Abdullah, Ari M. ;
Naqar, Sharo ;
Salih, Abdulwahid M. ;
Fatah, Mariwan L. ;
Kakamad, Fahmi H. .
INTERNATIONAL JOURNAL OF SURGERY CASE REPORTS, 2022, 93
[40]   Atypical Presentation of Lip Nodules in Clinically Diagnosed Juvenile Hyaline Fibromatosis [J].
Khoo, Ee Theng ;
Tan, Ju Ann ;
Al-Chalabi, Muath Mamdouh Mahmod ;
Zain, Mohammad Ali Mat ;
Sulaiman, Wan Azman Wan .
CUREUS JOURNAL OF MEDICAL SCIENCE, 2023, 15 (06)
12345