Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive Disease.
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TLDR
A four and a half-year-old female child presented with multiple soft tissue swellings involving the nose, orbital ridges, ears, bony prominences of the ulna and tibia and the parietal and occipital prominence and had gum hypertrophy.Abstract:
Systemic hyalinosis is inherited as an autosomal recessive disease. It may also be referred to as Fibromatosis hyalinica multiplex juvenilis and Murray-Puretic-Drescher syndrome. A four and a half-year-old female child presented with multiple soft tissue swellings involving the nose, orbital ridges, ears, bony prominences of the ulna and tibia and the parietal and occipital prominence and had gum hypertrophy. The diagnosis of this rare condition was based upon clinicopathological correlation, wherein the histopathological examination of cutaneous lesions reveals accumulation of hyaline material with fibroblast in the dermis. A multidisciplinary approach helped in correct diagnosis, management and in providing counseling for the parents. The child's parents were counseled about the surgical excision of the lesion; however, the parents opted for non-surgical conservative management.read more
Citations
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Journal ArticleDOI
Hyaline fibromatosis syndrome: a case presenting with gingival enlargement as the only clinical manifestation and a report of two new mutations in the ANTXR2 gene.
TL;DR: A case of a child with gingival enlargement as the only clinical manifestation, who was later diagnosed with HFS was described in this paper, where the absence of skin and joint lesions and other characteristic clinical presentations gave rise to a diagnostic problem.
Journal ArticleDOI
Juvenile Hyaline Fibromatosis: Report of a Case with a Novel ANTXR2 Gene Mutation
TL;DR: In this article , the authors reported the case of a 7-year-old girl from a family with ANTXR2 mutation confirming Juvenile hyaline fibromatosis (JHF).
Journal ArticleDOI
Juvenile Hyaline Fibromatosis: Report of a Case with a Novel ANTXR2 Gene Mutation
Pongsakorn Choochuen,Wison Laochareonsuk,Pattama Tanaanantarak,Kanet Kanjanapradit,Surasak Sangkhathat +4 more
TL;DR: A novel mutation in exon 15 of the ANTXR2 gene may help improve understanding of genotype-phenotype correlations for this syndrome and provide the basis for diagnostic testing.
Journal ArticleDOI
Síndrome de fibromatosis hialina: reporte de un caso y revisión bibliográfica
Marivi Cervera Gaviria,Julián García Sánchez,Juan José Juárez Vignon Whaley,Blanca Gabriela Lizeth Legorreta Ramírez +3 more
TL;DR: Las radiografias de las extremidades superiores e inferiores evidenciaron osteopenia generalizada y aumento de la radiolucencia en forma difusa, y el diagnostico inicial del sindrome de fibromatosis hialina se establece por los hallazgos clinicos.
Book ChapterDOI
Juvenile Hyaline Fibromatosis
TL;DR: Juvenile hyaline fibromatosis is a hereditary disease characterized by the formation of tumor-like benign lesions (classified among fibroblastic-myofibroncellular-blastic tumors).
References
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Journal ArticleDOI
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Sandra Hanks,Sarah Adams,Jenny Douglas,Laura Arbour,David J. Atherton,Sevim Balci,Harald Bode,Mary E. Campbell,Murray Feingold,Gökhan Keser,Wim J. Kleijer,Grazia M.S. Mancini,John A. McGrath,Francesco Muntoni,Arti Nanda,M. Dawn Teare,Matthew L. Warman,F. Michael Pope,Andrea Superti-Furga,P. Andrew Futreal,Nazneen Rahman +20 more
TL;DR: It is demonstrated that JHF and ISH are allelic conditions and perturbation of basement-membrane matrix assembly as the cause of the characteristic perivascular hyaline deposition seen in these conditions.
Journal ArticleDOI
Juvenile hyaline fibromatosis.
TL;DR: A 4‐year‐old boy with juvenile hyaline fibromatosis (systemic hyalinosis) is described and the clinical features, pathology and prognosis of this condition are discussed.
Journal ArticleDOI
The Gene for Juvenile Hyaline Fibromatosis Maps to Chromosome 4q21
Nazneen Rahman,Melanie Dunstan,M. Dawn Teare,Sandra Hanks,Sarah Edkins,Jaime Hughes,Graham R. Bignell,Grazia M.S. Mancini,Wim J. Kleijer,Mary E. Campbell,Gökhan Keser,Carol M. Black,Nigel Williams,Laura Arbour,Matthew L. Warman,Andrea Superti-Furga,P. Andrew Futreal,F. Michael Pope +17 more
TL;DR: A genomewide linkage search in two families with JHF from the same region of the Indian state of Gujarat identified a region of homozygosity on chromosome 4q21 and dense microsatellite analyses within this interval demonstrate that all are compatible with linkage to chromosome4q21.
Journal ArticleDOI
Infantile Systemic Hyalinosis or Juvenile Hyaline Fibromatosis
TL;DR: Histopathologic and ultrastructural studies confirmed the presence of hyalin material in the dermis and the term systemic hyalinosis involves both conditions and should be preferred until a clear distinction can be made between them.
Journal ArticleDOI
Clinical, histologic, and ultrastructural findings in two cases of infantile systemic hyalinosis.
TL;DR: Two unrelated infants had stiff skin and painful joint eontrac‐tures in the first few months of life and one of the patients described here demonstrated some features that overlap with those of juvenile hy‐aline fibromatosis.