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Quoted phrase not found in phrase index: "Linear skin defects with multiple congenital anomalies 3"
Page 1
Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.
Atzmony L, Ugwu N, Hamilton C, Paller AS, Zech L, Antaya RJ, Choate KA. Atzmony L, et al. Pediatr Dermatol. 2022 Nov;39(6):903-907. doi: 10.1111/pde.15094. Epub 2022 Jul 19. Pediatr Dermatol. 2022. PMID: 35853659 Free PMC article.
BACKGROUND: Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disease characterized by pruritic erythematous scaly plaques distributed along the lines of Blaschko. ...Two patients were re-diagnosed with congenital hemidysplasia with ichthyo …
BACKGROUND: Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disease characterized by pruritic erythematou …
A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.
Tan EC, Chia SY, Rafi'ee K, Lee SX, Kwek ABE, Tan SH, Ng VWL, Wei H, Koo S, Koh AL, Koh MJ. Tan EC, et al. Mol Genet Genomic Med. 2022 Jan;10(1):e1848. doi: 10.1002/mgg3.1848. Epub 2021 Dec 26. Mol Genet Genomic Med. 2022. PMID: 34957706 Free PMC article.
METHODS AND RESULTS: We report an adult female of Malay ancestry who presented with minimal skin and limb involvement. She was only diagnosed in adulthood when she presented with gastrointestinal symptoms and worsening of skin manifestations. ...The novel variant wa …
METHODS AND RESULTS: We report an adult female of Malay ancestry who presented with minimal skin and limb involvement. She was only d …
Dermoscopy and Reflectance Confocal Microscopy in Actinic Keratosis, Intraepithelial Carcinoma, and Invasive Squamous Cell Carcinoma.
Rstom S, Abdalla B, Blumetti T, Matos L, Pinhal M, Paschoal F. Rstom S, et al. J Drugs Dermatol. 2022 Mar 1;21(3):259-268. doi: 10.36849/JDD.5086. J Drugs Dermatol. 2022. PMID: 35254762
BACKGROUND: Patients with multiple actinic keratosis (AK), have pre-neosplastic abnormalities, constituting the sites of new tumors, this region is called the cancerization field. ...The results of this study are consistent with published studies and it was possible …
BACKGROUND: Patients with multiple actinic keratosis (AK), have pre-neosplastic abnormalities, constituting the sites of new t …
CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis.
Gantner S, Rütten A, Requena L, Gassenmaier G, Landthaler M, Hafner C. Gantner S, et al. J Cutan Pathol. 2014 Oct;41(10):787-90. doi: 10.1111/cup.12377. Epub 2014 Oct 18. J Cutan Pathol. 2014. PMID: 25093865
CHILD syndrome is an acronym signifying congenital hemidysplasia with ichthyosiform nevus and limb defects. A 27-year-old woman presented with chronic verrucous and hyperkeratotic skin lesions involving the left genital area, left hand and left foot since chi …
CHILD syndrome is an acronym signifying congenital hemidysplasia with ichthyosiform nevus and limb defects. A 27-year-old woma …
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 …
Epidermal nevus syndrome.
Paller AS. Paller AS. Neurol Clin. 1987 Aug;5(3):451-7. Neurol Clin. 1987. PMID: 3306336 Review.
Epidermal nevi are linear hamartomas of epidermal structures that usually appear at birth or during infancy. Patients with the epidermal nevus syndrome have epidermal nevi with abnormalities of the central nervous system, eyes, and bones, and other cutaneous alterat …
Epidermal nevi are linear hamartomas of epidermal structures that usually appear at birth or during infancy. Patients with the epider …
Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.
Martinez-Falero BS, Koutalopoulou A, Douglas AGL, Kharbanda M, Collinson MN, Lotery A, Lotery H. Martinez-Falero BS, et al. Clin Exp Dermatol. 2022 Dec;47(12):2342-2345. doi: 10.1111/ced.15355. Epub 2022 Sep 30. Clin Exp Dermatol. 2022. PMID: 36178237
A 39-year-old woman sought advice regarding potential risks to her offspring due to previous possible diagnosis of incontinentia pigmenti. She had linear hyperpigmentation along the lines of Blaschko affecting the upper and lower limbs, and skin-coloured papules on …
A 39-year-old woman sought advice regarding potential risks to her offspring due to previous possible diagnosis of incontinentia pigmenti. S …
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.
In addition, there have been no studies investigating advanced glycation endproducts (AGE) assessed by skin autofluorescence in people with CF. METHODS: In this prospective observational study, CGM and HbA1c were measured at 2 to 3 time points 3 months apart …
In addition, there have been no studies investigating advanced glycation endproducts (AGE) assessed by skin autofluorescence in peopl …
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/mm]; P = 0.00 …
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 ce …
The aim of this study was to describe the clinical profile of children with congenital pigmentary anomalies along Blaschko lin …
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