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Abnormal epidermis stratum granulosum morphology

MedGen UID:
1788473
•Concept ID:
C5539823
•
Anatomical Abnormality
HPO: HP:0033806

Definition

An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal epidermis stratum granulosum morphology

Recent clinical studies

Etiology

Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization.
Menon GK, Orsó E, Aslanidis C, Crumrine D, Schmitz G, Elias PM
Arch Dermatol Res 2014 Oct;306(8):731-7. Epub 2014 Jun 12 doi: 10.1007/s00403-014-1478-2. PMID: 24920240Free PMC Article
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.
Dahlqvist J, Klar J, Hausser I, Anton-Lamprecht I, Pigg MH, Gedde-Dahl T Jr, Gånemo A, Vahlquist A, Dahl N
J Med Genet 2007 Oct;44(10):615-20. Epub 2007 Jun 8 doi: 10.1136/jmg.2007.050542. PMID: 17557927Free PMC Article
Evidence that unrestricted legumain activity is involved in disturbed epidermal cornification in cystatin M/E deficient mice.
Zeeuwen PL, van Vlijmen-Willems IM, Olthuis D, Johansen HT, Hitomi K, Hara-Nishimura I, Powers JC, James KE, op den Camp HJ, Lemmens R, Schalkwijk J
Hum Mol Genet 2004 May 15;13(10):1069-79. Epub 2004 Mar 25 doi: 10.1093/hmg/ddh115. PMID: 15044380
The human cystatin M/E gene (CST6): exclusion candidate gene for harlequin ichthyosis.
Zeeuwen PL, Dale BA, de Jongh GJ, van Vlijmen-Willems IM, Fleckman P, Kimball JR, Stephens K, Schalkwijk J
J Invest Dermatol 2003 Jul;121(1):65-8. doi: 10.1046/j.1523-1747.2003.12312.x. PMID: 12839564

Diagnosis

Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization.
Menon GK, Orsó E, Aslanidis C, Crumrine D, Schmitz G, Elias PM
Arch Dermatol Res 2014 Oct;306(8):731-7. Epub 2014 Jun 12 doi: 10.1007/s00403-014-1478-2. PMID: 24920240Free PMC Article
Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype.
Bygum A, Westermark P, Brandrup F
J Am Acad Dermatol 2008 Nov;59(5 Suppl):S71-4. doi: 10.1016/j.jaad.2008.06.014. PMID: 19119129
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.
Dahlqvist J, Klar J, Hausser I, Anton-Lamprecht I, Pigg MH, Gedde-Dahl T Jr, Gånemo A, Vahlquist A, Dahl N
J Med Genet 2007 Oct;44(10):615-20. Epub 2007 Jun 8 doi: 10.1136/jmg.2007.050542. PMID: 17557927Free PMC Article
Congenital ichthyosiform erythroderma (C.I.E.)--ultrastructural evidences of abnormal stratum corneum retention.
Nicolae M, Toma C, Ionescu N
Rom J Morphol Embryol 1995 Jan-Jun;41(1-2):39-42. PMID: 8680023

Therapy

Unique profile of antimicrobial peptide expression in polymorphic light eruption lesions compared to healthy skin, atopic dermatitis, and psoriasis.
Patra V, Mayer G, Gruber-Wackernagel A, Horn M, Lembo S, Wolf P
Photodermatol Photoimmunol Photomed 2018 Mar;34(2):137-144. Epub 2017 Nov 13 doi: 10.1111/phpp.12355. PMID: 29044786Free PMC Article
Depletion of stratum corneum intercellular lipid lamellae and barrier function abnormalities after long-term topical corticosteroids.
Sheu HM, Lee JY, Chai CY, Kuo KW
Br J Dermatol 1997 Jun;136(6):884-90. PMID: 9217821
Changes in photo-aged human skin following topical application of all-trans retinoic acid.
Rosenthal DS, Roop DR, Huff CA, Weiss JS, Ellis CN, Hamilton T, Voorhees JJ, Yuspa SH
J Invest Dermatol 1990 Nov;95(5):510-5. doi: 10.1111/1523-1747.ep12504718. PMID: 1700022

Prognosis

Can simple physicochemical studies predict the effects of molecules on epidermal water-impermeable barrier function?
Denda M, Umino Y, Kumazawa N, Nakata S
Exp Dermatol 2020 Apr;29(4):393-399. Epub 2020 Feb 21 doi: 10.1111/exd.14075. PMID: 31990385
Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype.
Bygum A, Westermark P, Brandrup F
J Am Acad Dermatol 2008 Nov;59(5 Suppl):S71-4. doi: 10.1016/j.jaad.2008.06.014. PMID: 19119129

Clinical prediction guides

Can simple physicochemical studies predict the effects of molecules on epidermal water-impermeable barrier function?
Denda M, Umino Y, Kumazawa N, Nakata S
Exp Dermatol 2020 Apr;29(4):393-399. Epub 2020 Feb 21 doi: 10.1111/exd.14075. PMID: 31990385
Unique profile of antimicrobial peptide expression in polymorphic light eruption lesions compared to healthy skin, atopic dermatitis, and psoriasis.
Patra V, Mayer G, Gruber-Wackernagel A, Horn M, Lembo S, Wolf P
Photodermatol Photoimmunol Photomed 2018 Mar;34(2):137-144. Epub 2017 Nov 13 doi: 10.1111/phpp.12355. PMID: 29044786Free PMC Article
Perturbation of lamellar granule secretion by sodium caprate implicates epidermal tight junctions in lamellar granule function.
Kuroda S, Kurasawa M, Mizukoshi K, Maeda T, Yamamoto T, Oba A, Kishibe M, Ishida-Yamamoto A
J Dermatol Sci 2010 Aug;59(2):107-14. Epub 2010 Jun 16 doi: 10.1016/j.jdermsci.2010.06.001. PMID: 20654784
The distribution of free calcium ions in the cholesteatoma epithelium.
Svane-Knudsen V, Rasmussen G, Ottosen PD
Eur Arch Otorhinolaryngol 2005 Jan;262(1):77-80. Epub 2004 Feb 13 doi: 10.1007/s00405-004-0737-9. PMID: 14963721
Impaired desquamation in the in vitro reconstructed human epidermis.
Vicanová J, Mommaas AM, Mulder AA, Koerten HK, Ponec M
Cell Tissue Res 1996 Oct;286(1):115-22. doi: 10.1007/s004410050680. PMID: 8781218

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