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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1971 1
1993 1
1994 1
1995 1
1999 1
2005 1
2008 2
2009 2
2011 1
2012 1
2013 1
2014 1
2015 1
2016 2
2018 1
2019 1
2022 1
2024 0

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17 results

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Page 1
[Infantile systemic hyalinosis: a case report and literature review].
Lu J, Li J, Lin FY. Lu J, et al. Zhonghua Er Ke Za Zhi. 2016 Dec 2;54(12):946-949. doi: 10.3760/cma.j.issn.0578-1310.2016.12.015. Zhonghua Er Ke Za Zhi. 2016. PMID: 27938598 Review. Chinese.
Objective: To investigate the clinical, pathological and gene mutation features of infantile systemic hyalinosis(ISH). Method: Data of a child with ISH seen in Haikou Hospital were retrospectively analyzed for the diagnosis and differential diagnosis of in …
Objective: To investigate the clinical, pathological and gene mutation features of infantile systemic hyalinosis(ISH). …
Systemic Hyalinosis With Heterozygous CMG2 Mutations: A Case Report and Review of Literature.
Rahvar M, Teng J, Kim J. Rahvar M, et al. Am J Dermatopathol. 2016 May;38(5):e60-3. doi: 10.1097/DAD.0000000000000467. Am J Dermatopathol. 2016. PMID: 26885603 Review.
Clinical features include multiple papular skin lesions, gingival hyperplasia, joint contractures, and osteolytic bone lesions. The systemic variant of JHF, known as infantile systemic hyalinosis (ISH), has an early onset and poor prognosis. Histologic …
Clinical features include multiple papular skin lesions, gingival hyperplasia, joint contractures, and osteolytic bone lesions. The syste …
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.
Casas-Alba D, Martínez-Monseny A, Pino-Ramírez RM, Alsina L, Castejón E, Navarro-Vilarrubí S, Pérez-Dueñas B, Serrano M, Palau F, García-Alix A. Casas-Alba D, et al. Hum Mutat. 2018 Dec;39(12):1752-1763. doi: 10.1002/humu.23638. Epub 2018 Sep 17. Hum Mutat. 2018. PMID: 30176098 Review.
Hyaline fibromatosis syndrome (HFS) is the unifying term for infantile systemic hyalinosis and juvenile hyaline fibromatosis. ...It is characterized by abnormal growth of hyalinized fibrous tissue with cutaneous, mucosal, os …
Hyaline fibromatosis syndrome (HFS) is the unifying term for infantile systemic hyalinosis and juv …
Infantile systemic hyalinosis: Case report and review of the literature.
Lindvall LE, Kormeili T, Chen E, Ramirez MC, Grum-Tokars V, Glucksman MJ, Martignetti JA, Zaragoza MV, Dyson SW. Lindvall LE, et al. J Am Acad Dermatol. 2008 Feb;58(2):303-7. doi: 10.1016/j.jaad.2007.06.008. J Am Acad Dermatol. 2008. PMID: 18222328 Review.
Infantile systemic hyalinosis (ISH) is a rare, progressive autosomal recessive disease, which is usually fatal by the age of 2 years. ...Dermatologic manifestations include thickened skin, hyperpigmentation, perianal nodules, and facial papules. Histopatholog …
Infantile systemic hyalinosis (ISH) is a rare, progressive autosomal recessive disease, which is usually fatal by the a …
Heterogeneity and atypical presentation in infantile systemic hyalinosis with severe labio-gingival enlargement: first Egyptian report.
El-Kamah GY, Mostafa MI. El-Kamah GY, et al. Dermatol Online J. 2009 May 15;15(5):6. Dermatol Online J. 2009. PMID: 19624984 Review.
Infantile systemic hyalinosis (ISH) (MIM 236490) is a rare, progressive, fatal autosomal recessive condition characterized by widespread deposition of hyaline material in many tissues. ...We present a very rare entity, infantile systemic …
Infantile systemic hyalinosis (ISH) (MIM 236490) is a rare, progressive, fatal autosomal recessive condition characteri …
Infantile systemic hyalinosis presenting as intractable infantile diarrhea.
Al-Mubarak L, Al-Makadma A, Al-Khenaizan S. Al-Mubarak L, et al. Eur J Pediatr. 2009 Mar;168(3):363-5. doi: 10.1007/s00431-008-0760-8. Epub 2008 Jun 18. Eur J Pediatr. 2009. PMID: 18563441 Review.
Infantile systemic hyalinosis is an autosomal recessive disease characterized by severe progressive flexion contractures, multiple recurring subcutaneous tumours, and gingival hypertrophy. It is caused by mutations in the gene encoding capillary morphogenesis …
Infantile systemic hyalinosis is an autosomal recessive disease characterized by severe progressive flexion contracture …
Heterogeneity in gingival fibromatosis.
Witkop CJ Jr. Witkop CJ Jr. Birth Defects Orig Artic Ser. 1971 Jun;7(7):210-21. Birth Defects Orig Artic Ser. 1971. PMID: 4950923 Review.
A review of cases indicated that gingival fibromatosis occurs in a variety of genetic entities. High risk for epilepsy and oligophrenia is associated if hypertrichosis is present. Other entities are symmetrical gingival fibromatosis; Zimmermann-Laband syndrome …
A review of cases indicated that gingival fibromatosis occurs in a variety of genetic entities. High risk for epilepsy and oligophren …
Infantile systemic hyalinosis in a black infant.
Sahn EE, Salinas CF, Sens MA, Key J, Swiger FK Jr, Holbrook KA. Sahn EE, et al. Pediatr Dermatol. 1994 Mar;11(1):52-60. doi: 10.1111/j.1525-1470.1994.tb00076.x. Pediatr Dermatol. 1994. PMID: 7513419 Review.
This child had the clinical, histologic, and ultrastructural features of infantile systemic hyalinosis. This disorder has not been described in a black infant. Previous case reports of infantile systemic hyalinosis are reviewed and unusua …
This child had the clinical, histologic, and ultrastructural features of infantile systemic hyalinosis. This disorder h …
The dark sides of capillary morphogenesis gene 2.
Deuquet J, Lausch E, Superti-Furga A, van der Goot FG. Deuquet J, et al. EMBO J. 2012 Jan 4;31(1):3-13. doi: 10.1038/emboj.2011.442. Epub 2011 Dec 6. EMBO J. 2012. PMID: 22215446 Free PMC article. Review.
On the other hand, mutations in CMG2 lead to a rare but severe autosomal recessive disorder in humans called Hyaline Fibromatosis Syndrome (HFS). We will here review what is known about the structure of CMG2 and its ability to mediate anthrax toxin entry into …
On the other hand, mutations in CMG2 lead to a rare but severe autosomal recessive disorder in humans called Hyaline Fibromatosis …
Converging physiological roles of the anthrax toxin receptors.
Sergeeva OA, van der Goot FG. Sergeeva OA, et al. F1000Res. 2019 Aug 12;8:F1000 Faculty Rev-1415. doi: 10.12688/f1000research.19423.1. eCollection 2019. F1000Res. 2019. PMID: 31448094 Free PMC article. Review.
In the last few years, insight into their endogenous roles has come from two rare diseases: hyaline fibromatosis syndrome, caused by mutations in CMG2, and growth retardation, alopecia, pseudo-anodontia, and optic atrophy (GAPO) syndrome, caused by los …
In the last few years, insight into their endogenous roles has come from two rare diseases: hyaline fibromatosis syndrome …
17 results