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Quoted phrase not found in phrase index: "Linear skin defects with multiple congenital anomalies 2"
Page 1
Hereditary sclerosing poikiloderma.
Lee HJ, Shin DH, Choi JS, Kim KH. Lee HJ, et al. J Korean Med Sci. 2012 Feb;27(2):225-7. doi: 10.3346/jkms.2012.27.2.225. Epub 2012 Jan 27. J Korean Med Sci. 2012. PMID: 22323875 Free PMC article.
The clinical features are principally widespread poikiloderma and linear hyperkeratotic and sclerotic bands. We report an 18-yr-old male who presented reticular hyperpigmented lesions on the trunk and extremities since 2-yr-old. Also, linear sclerosing bands …
The clinical features are principally widespread poikiloderma and linear hyperkeratotic and sclerotic bands. We report an 18-yr-old m …
Focal Dermal Hypoplasia with Osteopathia Striata.
Almashaqbeh SS, Aljammal DS, Alharahsheh HM, Alqudah SF, Alkrimeen RA. Almashaqbeh SS, et al. Med Arch. 2022 Aug;76(4):301-304. doi: 10.5455/medarh.2022.76.301-304. Med Arch. 2022. PMID: 36313953 Free PMC article.
BACKGROUND: Focal dermal hypoplasia is a genetic disease of multiple systems initially affecting the skin, skeleton, dental, eyes and face with developmental abnormalities and facial dysmorphism. ...CASE REPORT: A one-year-old girl child presented to the derm …
BACKGROUND: Focal dermal hypoplasia is a genetic disease of multiple systems initially affecting the skin, skeleton, dental, e …
Nevoid basal-cell carcinoma syndrome.
Gorlin RJ. Gorlin RJ. Medicine (Baltimore). 1987 Mar;66(2):98-113. doi: 10.1097/00005792-198703000-00002. Medicine (Baltimore). 1987. PMID: 3547011 Review.
The nevoid basal-cell carcinoma syndrome is characterized by major manifestations, such as multiple basal-cell carcinomata, cysts of the jaws, and skeletal--specifically, rib--abnormalities. ...There is some evidence that radiation of the skin promotes the ap …
The nevoid basal-cell carcinoma syndrome is characterized by major manifestations, such as multiple basal-cell carcinomata, cysts of …
Decreased bone mineral density in Costello syndrome.
Leoni C, Stevenson DA, Martini L, De Sanctis R, Mascolo G, Pantaleoni F, De Santis S, La Torraca I, Persichilli S, Caradonna P, Tartaglia M, Zampino G. Leoni C, et al. Mol Genet Metab. 2014 Jan;111(1):41-5. doi: 10.1016/j.ymgme.2013.08.007. Epub 2013 Aug 16. Mol Genet Metab. 2014. PMID: 24246682
INTRODUCTION: Costello syndrome (CS) is a multisystemic disorder characterized by postnatal reduced growth, facial dysmorphism, cardiac defects, cognitive impairment, skin and musculo-skeletal anomalies, and predisposition to certain cancers. ...DISCUSSION: C …
INTRODUCTION: Costello syndrome (CS) is a multisystemic disorder characterized by postnatal reduced growth, facial dysmorphism, cardiac d …
Continuous glucose monitoring and advanced glycation endproducts for prediction of clinical outcomes and development of cystic fibrosis-related diabetes in adults with CF.
Scully KJ, Brenner L, Martin K, Ruazol M, Sawicki GS, Uluer A, Neuringer I, Yonker LM, Sicilian L, Putman MS. Scully KJ, et al. Front Endocrinol (Lausanne). 2024 Feb 6;15:1293709. doi: 10.3389/fendo.2024.1293709. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38379863 Free PMC article.
Onset is often insidious, so screening for early detection of glycemic abnormalities is important. Continuous glucose monitoring (CGM) has been validated in people with CF and has been shown to detect early glycemic variability otherwise missed on 2-hour oral glucos …
Onset is often insidious, so screening for early detection of glycemic abnormalities is important. Continuous glucose monitoring (CGM …
Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization.
Cain CC, Saul D, Attanasio L, Oehler E, Hamosh A, Blakemore K, Stetten G. Cain CC, et al. Prenat Diagn. 2007 Apr;27(4):373-9. doi: 10.1002/pd.1674. Prenat Diagn. 2007. PMID: 17286317
OBJECTIVE: To explore the utility of comparative genomic hybridization to BAC arrays (array CGH) for prenatal diagnosis of microphthalmia and linear skin defects syndrome. METHODS: We used karyotype analysis, FISH and array CGH to investigate an X;Y transloca …
OBJECTIVE: To explore the utility of comparative genomic hybridization to BAC arrays (array CGH) for prenatal diagnosis of microphthalmia an …
Association between small fiber neuropathy and higher skin accumulation of advanced glycation end products in patients with type 1 diabetes.
Araszkiewicz A, Gandecka A, Nowicki M, Uruska A, Malińska A, Kowalska K, Wierusz-Wysocka B, Zozulińska-Ziółkiewicz D. Araszkiewicz A, et al. Pol Arch Med Wewn. 2016 Nov 22;126(11):847-853. doi: 10.20452/pamw.3649. Epub 2016 Nov 22. Pol Arch Med Wewn. 2016. PMID: 27906877 Free article.
RESULTS Patients with DPN (45%), compared with those without neuropathy, had higher skin AF (2.6 AU [IQR, 2.3-3.1 AU] vs 2.1 AU [IQR, 1.8-2.5 AU]; P <0.001) and lower IENFD (10 fibers/mm [IQR, 7-14 fibers/mm] vs 12 fibers/mm [IQR, 8-16 fibers …
RESULTS Patients with DPN (45%), compared with those without neuropathy, had higher skin AF (2.6 AU [IQR, 2.3-3.1 AU] v …
The clinical profile of children in India with pigmentary anomalies along the lines of Blaschko and central nervous system manifestations.
Pinheiro A, Mathew MC, Thomas M, Jacob M, Srivastava VM, Cherian R, Raju R, George R. Pinheiro A, et al. Pediatr Dermatol. 2007 Jan-Feb;24(1):11-7. doi: 10.1111/j.1525-1470.2007.00325.x. Pediatr Dermatol. 2007. PMID: 17300642
The aim of this study was to describe the clinical profile of children with congenital pigmentary anomalies along Blaschko lines and the associated manifestations in the central nervous system. ...The majority (92.3%) of patients manifested skin and central n …
The aim of this study was to describe the clinical profile of children with congenital pigmentary anomalies along Blaschko lin …
Postnatal confirmation of prenatally diagnosed trisomy 20 mosaicism in a patient with linear and whorled nevoid hypermelanosis.
Hartmann A, Hofmann UB, Hoehn H, Broecker EB, Hamm H. Hartmann A, et al. Pediatr Dermatol. 2004 Nov-Dec;21(6):636-41. doi: 10.1111/j.0736-8046.2004.21604.x. Pediatr Dermatol. 2004. PMID: 15575846 Review.
Linear and whorled nevoid hypermelanosis (LWNH) is characterized by hyperpigmented reticulate macules in a Blaschko linear arrangement without atrophy or preceding inflammation. ...In postnatal analysis of peripheral blood lymphocytes, an extra chromosome 20 could n …
Linear and whorled nevoid hypermelanosis (LWNH) is characterized by hyperpigmented reticulate macules in a Blaschko linear arr …
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.
Oliwa A, Hendson G, Longman C, Synnes A, Seath K, Barnicoat A, Hall JG, Patel MS. Oliwa A, et al. Am J Med Genet A. 2023 Feb;191(2):546-553. doi: 10.1002/ajmg.a.63019. Epub 2022 Nov 1. Am J Med Genet A. 2023. PMID: 36317804
Distal arthrogryposes (DA) are a group of conditions presenting with multiple congenital contractures in the distal joints. The 10 types of DA are distinguished by different extra-articular manifestations. ...His phenotype broadly fits the PIEZO2 phenotypic spectrum …
Distal arthrogryposes (DA) are a group of conditions presenting with multiple congenital contractures in the distal joints. Th …
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