{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T10:53:41Z","timestamp":1791888821854,"version":"4.3.4"},"reference-count":39,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,8,20]],"date-time":"2002-08-20T00:00:00Z","timestamp":1029801600000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2002,8]]},"abstract":"<jats:p><jats:bold>Abstract:<\/jats:bold> The clinical diagnosis of ichthyosis vulgaris (IV) can be difficult. Abnormalities in the granular layer and the ultrastructure of keratohyalin granules (KHG) suggest that morphology may be helpful. To clarify morphologic findings in IV, 41 clinically affected individuals and 21 unaffected family members or age\u2010 and sex\u2010matched controls were studied by light microscopy. In these, the granular layer was totally absent in approximately 50% of affected individuals, while present in all controls. Forty\u2010seven individuals in the light microscopy group were also studied by electron microscopy. Keratohyalin granules were absent in all affected individuals lacking the granular layer by light microscopy. Clinical severity usually correlated with the lack of a granular layer and KHG. Absence of the granular layer was consistent in different anatomic sites and in serial biopsies taken over a 1\u20133\u2010year period. In a subset of clinically affected, unrelated subjects with moderate to severe involvement, four out of 11 (36%) had similar findings. Keratinocytes cultured from affected individuals with no KHG expressed virtually no detectable profilaggrin protein <jats:italic>in vitro<\/jats:italic>.<\/jats:p><jats:p>The data suggest that a subset of individuals with moderate to severe IV have a consistently absent granular layer and KHG. Absence of the granular layer and lack of KHG correlated almost perfectly; thus light microscopy offers a convenient means of identifying this subtype of IV. However, both morphologic types of IV were observed within single families. Therefore, the relationship between granular layer abnormalities and IV is complex and requires the study of more affected families. One interpretation of the data is that IV is a multigenic disorder in which one of the genes alters profilaggrin expression. We propose this clinical and histologic phenotype as useful for identifying the gene(s) involved and also for determining whether it represents a modifier or a major locus of the disorder.<\/jats:p>","DOI":"10.1034\/j.1600-0625.2002.110406.x","type":"journal-article","created":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T20:27:52Z","timestamp":1047414472000},"page":"327-336","source":"Crossref","is-referenced-by-count":44,"title":["Absence of the granular layer and keratohyalin define a morphologically distinct subset of individuals with ichthyosis vulgaris"],"prefix":"10.1111","volume":"11","author":[{"given":"Philip","family":"Fleckman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Brumbaugh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,8,20]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1965.01600130007001"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-73650-6"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.5493.947"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1972.tb01884.x"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1977.tb15427.x"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00391.x"},{"key":"e_1_2_7_8_2","first-page":"575","article-title":"Discriminant function analysis of phenotype variates in ichthyosis","volume":"19","author":"Merrett J D","year":"1967","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1985.tb02316.x"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1988.tb03503.x"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4362.1989.tb04812.x"},{"key":"e_1_2_7_12_2","doi-asserted-by":"crossref","first-page":"431","DOI":"10.2340\/0001555571431434","article-title":"Autosomal dominant ichthyosis and X\u2010linked ichthyosis","volume":"71","author":"Mevorah B","year":"1991","journal-title":"Acta Derm Venereol Suppl (Stockh)"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/jid.1966.80"},{"issue":"62","key":"e_1_2_7_14_2","first-page":"1","article-title":"Ichthyosis vulgaris","volume":"49","author":"Kuokkanen K","year":"1969","journal-title":"Acta Derm Venereol"},{"key":"e_1_2_7_15_2","volume-title":"Pharmacology and the Skin: From Molecular Biology to Therapeutics","author":"Fleckman P","year":"1993"},{"key":"e_1_2_7_16_2","volume-title":"The Keratinocyte Handbook","author":"Dale B A","year":"1994"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0304-4165(82)90314-2"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12264813"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.2.871"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1998.00208.x"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1097\/00000372-199302000-00004"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00702363"},{"key":"e_1_2_7_23_2","unstructured":"PabstB.Vergleichende ultrastrukturelle untersuchen an befallener und nicht befallener haut von patienten mit autosomal\u2010dominanter ichthyosis vulgaris und prim\u00e4rem strukturdefekt des keratohyalins.Thesis 1979. Universitat Heidelberg Department of Dermatology:1\u2013145."},{"key":"e_1_2_7_24_2","unstructured":"Berndt\u2010SchumannC.Neurodermitis atopica und autosomal\u2010dominante ichthyosis vulgaris: Eine ultrastrukturelle studie sur genetischen korreolation beider dermatosen anhand eines ausgew\u00e4hlten patienten\u2010kollektivs.Thesis 1982. Universitat Heidelberg Department of Dermatology."},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0625.2002.110604.x"},{"key":"e_1_2_7_26_2","doi-asserted-by":"crossref","first-page":"1906","DOI":"10.1093\/clinchem\/35.9.1906","article-title":"Diagnosis of recessive X\u2010linked ichthyosis: Quantitative HPLC\/mass spectrometric analysis of plasma for cholesterol sulfate","volume":"35","author":"Shackleton Ch","year":"1989","journal-title":"Clin Chem"},{"key":"e_1_2_7_27_2","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12470251"},{"key":"e_1_2_7_28_2","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12338501"},{"key":"e_1_2_7_29_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00600210"},{"key":"e_1_2_7_30_2","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1001\/archderm.1981.01650080044026","article-title":"Hyperlinear palms: Association with ichthyosis and atopic dermatitis","volume":"117","author":"Uehara M","year":"1981","journal-title":"Arch Dermatol"},{"key":"e_1_2_7_31_2","doi-asserted-by":"crossref","first-page":"346","DOI":"10.2340\/0001555562346348","article-title":"Palmar hyperlinearity in atopic dermatitis","volume":"62","author":"Hoyer H","year":"1982","journal-title":"Acta Derm Venereol"},{"key":"e_1_2_7_32_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00417327"},{"key":"e_1_2_7_33_2","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1001\/archderm.1970.04000050028004","article-title":"Histology of autosomal dominant ichthyosis vulgaris and X\u2010linked ichthyosis","volume":"101","author":"Feinstein A","year":"1970","journal-title":"Arch Dermatol"},{"key":"e_1_2_7_34_2","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12551480"},{"key":"e_1_2_7_35_2","doi-asserted-by":"publisher","DOI":"10.1159\/000248427"},{"key":"e_1_2_7_36_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00371777"},{"key":"e_1_2_7_37_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-0436.1991.tb00241.x"},{"key":"e_1_2_7_38_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1651563"},{"key":"e_1_2_7_39_2","first-page":"1146","article-title":"Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q","volume":"55","author":"Russell L J","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_40_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-2236(97)01187-9"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1034%2Fj.1600-0625.2002.110406.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1034%2Fj.1600-0625.2002.110406.x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1034\/j.1600-0625.2002.110406.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T08:25:43Z","timestamp":1695889543000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1034\/j.1600-0625.2002.110406.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,8]]},"references-count":39,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,8]]}},"alternative-id":["10.1034\/j.1600-0625.2002.110406.x"],"URL":"https:\/\/doi.org\/10.1034\/j.1600-0625.2002.110406.x","archive":["Portico"],"relation":{},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"value":"0906-6705","type":"print"},{"value":"1600-0625","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,8]]}}}