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Generalized abnormality of skin

MedGen UID:
866804
•Concept ID:
C4021157
•
Anatomical Abnormality
Synonym: Generalised abnormality of skin
 
HPO: HP:0011354

Definition

An abnormality of the skin that is not localized to any one particular region. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Generalized abnormality of skin

Professional guidelines

PubMed

Skin Pigmentation Types, Causes and Treatment-A Review.
Thawabteh AM, Jibreen A, Karaman D, Thawabteh A, Karaman R
Molecules 2023 Jun 18;28(12) doi: 10.3390/molecules28124839. PMID: 37375394Free PMC Article
Keratosis pilaris: an update and approach to management.
Kodali N, Patel VM, Schwartz RA
Ital J Dermatol Venerol 2023 Jun;158(3):217-223. Epub 2023 May 11 doi: 10.23736/S2784-8671.23.07594-1. PMID: 37166753
JAK inhibitors in the treatment of atopic dermatitis.
Chovatiya R, Paller AS
J Allergy Clin Immunol 2021 Oct;148(4):927-940. Epub 2021 Aug 24 doi: 10.1016/j.jaci.2021.08.009. PMID: 34437922Free PMC Article

Recent clinical studies

Etiology

Pediatric joint hypermobility: a diagnostic framework and narrative review.
Tofts LJ, Simmonds J, Schwartz SB, Richheimer RM, O'Connor C, Elias E, Engelbert R, Cleary K, Tinkle BT, Kline AD, Hakim AJ, van Rossum MAJ, Pacey V
Orphanet J Rare Dis 2023 May 4;18(1):104. doi: 10.1186/s13023-023-02717-2. PMID: 37143135Free PMC Article
The Pathogenesis and Management of Acne-Induced Post-inflammatory Hyperpigmentation.
Elbuluk N, Grimes P, Chien A, Hamzavi I, Alexis A, Taylor S, Gonzalez N, Weiss J, Desai SR, Kang S
Am J Clin Dermatol 2021 Nov;22(6):829-836. Epub 2021 Sep 1 doi: 10.1007/s40257-021-00633-4. PMID: 34468934
Tuberous Sclerosis Complex.
Islam MP
Semin Pediatr Neurol 2021 Apr;37:100875. Epub 2021 Feb 11 doi: 10.1016/j.spen.2021.100875. PMID: 33892851
Inherited ichthyosis: Non-syndromic forms.
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Ceramides and skin function.
Coderch L, López O, de la Maza A, Parra JL
Am J Clin Dermatol 2003;4(2):107-29. doi: 10.2165/00128071-200304020-00004. PMID: 12553851

Diagnosis

Pediatric psoriasis: Understanding pathological conditions and advances in treatment.
Morita A, Saeki H
J Dermatol 2024 Feb;51(2):185-195. Epub 2023 Dec 17 doi: 10.1111/1346-8138.17049. PMID: 38105636Free PMC Article
Keratosis pilaris: an update and approach to management.
Kodali N, Patel VM, Schwartz RA
Ital J Dermatol Venerol 2023 Jun;158(3):217-223. Epub 2023 May 11 doi: 10.23736/S2784-8671.23.07594-1. PMID: 37166753
Pediatric joint hypermobility: a diagnostic framework and narrative review.
Tofts LJ, Simmonds J, Schwartz SB, Richheimer RM, O'Connor C, Elias E, Engelbert R, Cleary K, Tinkle BT, Kline AD, Hakim AJ, van Rossum MAJ, Pacey V
Orphanet J Rare Dis 2023 May 4;18(1):104. doi: 10.1186/s13023-023-02717-2. PMID: 37143135Free PMC Article
Skin Changes of POEMS.
Liu S, Jiao Y
J Gen Intern Med 2023 Oct;38(13):3065-3066. Epub 2023 Mar 21 doi: 10.1007/s11606-023-08171-x. PMID: 36944904Free PMC Article
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090

Therapy

Ichthyosis: presentation and management.
Butala S, Mazereeuw-Hautier J, Paller AS
Curr Opin Pediatr 2023 Aug 1;35(4):467-474. Epub 2023 Jun 22 doi: 10.1097/MOP.0000000000001264. PMID: 37345742
Long-Term Benefits of Tagraxofusp for Patients With Blastic Plasmacytoid Dendritic Cell Neoplasm.
Pemmaraju N, Sweet KL, Stein AS, Wang ES, Rizzieri DA, Vasu S, Rosenblat TL, Brooks CL, Habboubi N, Mughal TI, Kantarjian H, Konopleva M, Lane AA
J Clin Oncol 2022 Sep 10;40(26):3032-3036. Epub 2022 Jul 12 doi: 10.1200/JCO.22.00034. PMID: 35820082Free PMC Article
The Pathogenesis and Management of Acne-Induced Post-inflammatory Hyperpigmentation.
Elbuluk N, Grimes P, Chien A, Hamzavi I, Alexis A, Taylor S, Gonzalez N, Weiss J, Desai SR, Kang S
Am J Clin Dermatol 2021 Nov;22(6):829-836. Epub 2021 Sep 1 doi: 10.1007/s40257-021-00633-4. PMID: 34468934
Tuberous sclerosis complex.
Henske EP, Jóźwiak S, Kingswood JC, Sampson JR, Thiele EA
Nat Rev Dis Primers 2016 May 26;2:16035. doi: 10.1038/nrdp.2016.35. PMID: 27226234
Ceramides and skin function.
Coderch L, López O, de la Maza A, Parra JL
Am J Clin Dermatol 2003;4(2):107-29. doi: 10.2165/00128071-200304020-00004. PMID: 12553851

Prognosis

Blockade of interleukin-13 signalling improves skin barrier function and biology in patients with moderate-to-severe atopic dermatitis.
Sander N, Stölzl D, Fonfara M, Hartmann J, Harder I, Suhrkamp I, Jakaša I, van den Bogaard E, van Vlijmen-Willems I, Szymczak S, Rodriguez E, Gerdes S, Weidinger S
Br J Dermatol 2024 Aug 14;191(3):344-350. doi: 10.1093/bjd/ljae138. PMID: 38531691
Perioperative Management of Congenital Epidermolysis Bullosa.
Yukawa H, Makino T, Hayashi K, Date H, Honda N, Anami Y
Ann Thorac Surg 2023 Jul;116(1):e1-e4. Epub 2022 Jul 19 doi: 10.1016/j.athoracsur.2022.06.045. PMID: 35863401
Current Concepts on the Pathogenesis of Systemic Sclerosis.
Truchetet ME, Brembilla NC, Chizzolini C
Clin Rev Allergy Immunol 2023 Jun;64(3):262-283. Epub 2021 Sep 6 doi: 10.1007/s12016-021-08889-8. PMID: 34487318Free PMC Article
Gardner's syndrome.
Perniciaro C
Dermatol Clin 1995 Jan;13(1):51-6. PMID: 7712650
Posterior sagittal anorectoplasty: important technical considerations and new applications.
Peña A, Devries PA
J Pediatr Surg 1982 Dec;17(6):796-811. doi: 10.1016/s0022-3468(82)80448-x. PMID: 6761417

Clinical prediction guides

Blockade of interleukin-13 signalling improves skin barrier function and biology in patients with moderate-to-severe atopic dermatitis.
Sander N, Stölzl D, Fonfara M, Hartmann J, Harder I, Suhrkamp I, Jakaša I, van den Bogaard E, van Vlijmen-Willems I, Szymczak S, Rodriguez E, Gerdes S, Weidinger S
Br J Dermatol 2024 Aug 14;191(3):344-350. doi: 10.1093/bjd/ljae138. PMID: 38531691
Pediatric joint hypermobility: a diagnostic framework and narrative review.
Tofts LJ, Simmonds J, Schwartz SB, Richheimer RM, O'Connor C, Elias E, Engelbert R, Cleary K, Tinkle BT, Kline AD, Hakim AJ, van Rossum MAJ, Pacey V
Orphanet J Rare Dis 2023 May 4;18(1):104. doi: 10.1186/s13023-023-02717-2. PMID: 37143135Free PMC Article
Tape-Strip Proteomic Profiling of Atopic Dermatitis on Dupilumab Identifies Minimally Invasive Biomarkers.
He H, Olesen CM, Pavel AB, Clausen ML, Wu J, Estrada Y, Zhang N, Agner T, Guttman-Yassky E
Front Immunol 2020;11:1768. Epub 2020 Aug 6 doi: 10.3389/fimmu.2020.01768. PMID: 32849633Free PMC Article
Amino acid synthesis deficiencies.
de Koning TJ
J Inherit Metab Dis 2017 Jul;40(4):609-620. Epub 2017 Jun 26 doi: 10.1007/s10545-017-0063-1. PMID: 28653176Free PMC Article
Blueberry muffin baby: a pictoral differential diagnosis.
Mehta V, Balachandran C, Lonikar V
Dermatol Online J 2008 Feb 28;14(2):8. PMID: 18700111

Recent systematic reviews

An Umbrella Review of Meta-Analyses Evaluating Associations between Human Health and Exposure to Major Classes of Plastic-Associated Chemicals.
Symeonides C, Aromataris E, Mulders Y, Dizon J, Stern C, Barker TH, Whitehorn A, Pollock D, Marin T, Dunlop S
Ann Glob Health 2024;90(1):52. Epub 2024 Aug 19 doi: 10.5334/aogh.4459. PMID: 39183960Free PMC Article
Treatment of enterocutaneous fistula: a systematic review and meta-analysis.
Gefen R, Garoufalia Z, Zhou P, Watson K, Emile SH, Wexner SD
Tech Coloproctol 2022 Nov;26(11):863-874. Epub 2022 Aug 1 doi: 10.1007/s10151-022-02656-3. PMID: 35915291
Strategies for using topical corticosteroids in children and adults with eczema.
Lax SJ, Harvey J, Axon E, Howells L, Santer M, Ridd MJ, Lawton S, Langan S, Roberts A, Ahmed A, Muller I, Ming LC, Panda S, Chernyshov P, Carter B, Williams HC, Thomas KS, Chalmers JR
Cochrane Database Syst Rev 2022 Mar 11;3(3):CD013356. doi: 10.1002/14651858.CD013356.pub2. PMID: 35275399Free PMC Article
Airway Ultrasound as Predictor of Difficult Direct Laryngoscopy: A Systematic Review and Meta-analysis.
Carsetti A, Sorbello M, Adrario E, Donati A, Falcetta S
Anesth Analg 2022 Apr 1;134(4):740-750. doi: 10.1213/ANE.0000000000005839. PMID: 34914641Free PMC Article
Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.
Krämer S, Lucas J, Gamboa F, Peñarrocha Diago M, Peñarrocha Oltra D, Guzmán-Letelier M, Paul S, Molina G, Sepúlveda L, Araya I, Soto R, Arriagada C, Lucky AW, Mellerio JE, Cornwall R, Alsayer F, Schilke R, Antal MA, Castrillón F, Paredes C, Serrano MC, Clark V
Spec Care Dentist 2020 Nov;40 Suppl 1(Suppl 1):3-81. doi: 10.1111/scd.12511. PMID: 33202040Free PMC Article

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