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Quoted phrase not found in phrase index: "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome"
Page 1
FGFR2 signaling and the pathogenesis of acne.
Melnik B, Schmitz G. Melnik B, et al. J Dtsch Dermatol Ges. 2008 Sep;6(9):721-8. doi: 10.1111/j.1610-0387.2008.06822.x. J Dtsch Dermatol Ges. 2008. PMID: 19000061 Review. English, German.
Acne in Apert syndrome and unilateral segmental acneiform nevus are associated with mutations of fibroblast growth factor receptor 2 (FGFR2), which are likely to be involved in the pathogenesis of acne. ...The gain of function FGFR2 mutations in Apert synd …
Acne in Apert syndrome and unilateral segmental acneiform nevus are associated with mutations of fibroblast growth fact …
Segmental hypomelanosis and hypermelanosis arranged in a checkerboard pattern are distinct naevi: flag-like hypomelanotic naevus and flag-like hypermelanotic naevus.
Torchia D, Happle R. Torchia D, et al. J Eur Acad Dermatol Venereol. 2015 Nov;29(11):2088-99. doi: 10.1111/jdv.13077. Epub 2015 Mar 6. J Eur Acad Dermatol Venereol. 2015. PMID: 25752916 Review.
Its cooccurrence with extracutaneous abnormalities might represent a specific syndrome. Flag-like hypermelanosis is a distinct naevus type, for which the term 'flag-like hypermelanotic naevus' is suggested. Its co-occurrence with naevus roseus defines …
Its cooccurrence with extracutaneous abnormalities might represent a specific syndrome. Flag-like hypermelanosis is a distinct nae …
Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome.
Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Darling TN, Burton-Akright J, Bagheri M, Dombi E, Gruber A, Jarosinski PF, Martin S, Nathan N, Paul SM, Savage RE, Wolters PL, Schwartz B, Widemann BC, Biesecker LG. Keppler-Noreuil KM, et al. Am J Hum Genet. 2019 Mar 7;104(3):484-491. doi: 10.1016/j.ajhg.2019.01.015. Epub 2019 Feb 22. Am J Hum Genet. 2019. PMID: 30803705 Free PMC article. Clinical Trial.
Proteus syndrome is a life-threatening segmental overgrowth syndrome caused by a mosaic gain-of-function AKT1 variant. ...Two of the six efficacy endpoints (secondary objectives) suggested that this agent may be efficacious. We observed a decrease in a …
Proteus syndrome is a life-threatening segmental overgrowth syndrome caused by a mosaic gain-of-function AKT1 variant. …
Epidermal nevus syndrome associated with anterior scleral staphyloma and ectopic bone and cartilaginous intraocular tissue.
Miyagawa Y, Nakazawa M, Kudoh T. Miyagawa Y, et al. Jpn J Ophthalmol. 2010 Jan;54(1):15-8. doi: 10.1007/s10384-009-0760-x. Epub 2010 Feb 12. Jpn J Ophthalmol. 2010. PMID: 20151270
We report herein the case of a Japanese girl with epidermal nevus syndrome associated with complex ocular choristoma and discuss the histopathological findings. ...CONCLUSION: Epidermal nevus syndrome associated with complex ocular choristoma was diagn …
We report herein the case of a Japanese girl with epidermal nevus syndrome associated with complex ocular choristoma and discu …
Blue rubber bleb nevus syndrome and pulmonary hypertension: an unusual association.
Giordano C, Battagliese A, di Gioia CR, Campagna D, Benedetti F, Travaglini C, Gallo P, d' Amati G. Giordano C, et al. Cardiovasc Pathol. 2004 Nov-Dec;13(6):317-22. doi: 10.1016/j.carpath.2004.07.004. Cardiovasc Pathol. 2004. PMID: 15556778
INTRODUCTION: Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital systemic angiodysplasia with multiple vascular malformations in the skin, gastrointestinal tract and, less often, in other internal organs and the brain. ...The most striking finding in the l …
INTRODUCTION: Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital systemic angiodysplasia with multiple vascular malf …
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L. Muller EA, et al. Am J Med Genet A. 2012 Feb;158A(2):391-9. doi: 10.1002/ajmg.a.34216. Epub 2011 Dec 21. Am J Med Genet A. 2012. PMID: 22190277 Free article.
Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (OMIM #109400) is a well-described rare autosomal dominant condition due to haploinsufficiency of PTCH1. ...A number of the patients exhibited metopic craniosynostosis, severe obstructive hydroce …
Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (OMIM #109400) is a well-described rare autosomal domin …
The patched signaling pathway in tumorigenesis and development: lessons from animal models.
Hahn H, Wojnowski L, Miller G, Zimmer A. Hahn H, et al. J Mol Med (Berl). 1999 Jun;77(6):459-68. doi: 10.1007/s001099900018. J Mol Med (Berl). 1999. PMID: 10475061 Review.
The identification of mutations in the human homolog of the Drosophila segment polarity gene Patched in basal cell carcinoma has sparked intense interest in the role of this gene in human disorders. ...Such patients suffer from Gorlin, or nevoid basal cell carcinoma, sy …
The identification of mutations in the human homolog of the Drosophila segment polarity gene Patched in basal cell carcinoma has spar …
Obscure gastrointestinal bleeding in the setting of blue rubber bleb nevus syndrome with extensive small bowel involvement.
Silva JC, Afecto E, Rodrigues A, Pinho R. Silva JC, et al. Rev Esp Enferm Dig. 2020 Apr;112(4):323-324. doi: 10.17235/reed.2020.6963/2020. Rev Esp Enferm Dig. 2020. PMID: 32202910 Free article.
Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by multiple vascular malformations of the gastrointestinal (GI) tract, skin and less frequently in solid organs. ...On admission, he had hemoglobin levels of 7.6g/dl, esophagogastroduodenoscopy …
Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by multiple vascular malformations of the gastrointes …
Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall.
Gruson LM, Orlow SJ, Schaffer JV. Gruson LM, et al. J Am Acad Dermatol. 2006 Aug;55(2 Suppl):S16-20. doi: 10.1016/j.jaad.2005.08.045. J Am Acad Dermatol. 2006. PMID: 16843117
Phacomatosis pigmentokeratotica (PPK) represents a specific "twin nevus" syndrome in which a speckled lentiginous nevus (SLN) is associated with an organoid nevus with sebaceous differentiation. ...A variety of musculoskeletal, neurologic, and ocular a …
Phacomatosis pigmentokeratotica (PPK) represents a specific "twin nevus" syndrome in which a speckled lentiginous nevus …
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.
Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, Negus K, Smyth I, Pressman C, Leffell DJ, Gerrard B, Goldstein AM, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale AE. Hahn H, et al. Cell. 1996 Jun 14;85(6):841-51. doi: 10.1016/s0092-8674(00)81268-4. Cell. 1996. PMID: 8681379 Free article.
A human sequence (PTC) with strong homology to the Drosophila segment polarity gene, patched, was isolated from a YAC and cosmid contig of the NBCCS region. ...We propose that a reduction in expression of the patched gene can lead to the developmental abnormalities obse …
A human sequence (PTC) with strong homology to the Drosophila segment polarity gene, patched, was isolated from a YAC and cosmid cont …
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