{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:37:44Z","timestamp":1789180664637,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":8918,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1981,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a family in which two males and seven females have brown pigmentation of the skin. In the females, the type and distribution of the pigmentation mimicked incontinentia pigmenti; in the males, the pattern was reticulate. The histological appearance was the same in both sexes with amyloid deposits in the papillary dermis, melanin in the basal layer, and slight hyperkeratosis. The females were otherwise normal. Both males had thrived poorly as infants but had survived. One had severe gastroenteritis with blood in the stools starting at the age of three weeks followed by seizures, hemiplegia, and developmental delay; the other had recurrent pneumonia throughout life, a urethral stricture, inguinal herniae, and near\u2010blindness from amyloid deposition in the cornea.<\/jats:p><jats:p>Five other males in the family had had severe illnesses. Two died of pneumonia by three months. One died at three months from colitis. Both remaining boys had colitis as infants, failed to thrive, and developed recurrent pneumonia from which one died at three years.<\/jats:p><jats:p>We think all of these relatives had the same disease carried by a single gene with pleiotropic effects. The most likely form of inheritance is X\u2010linked.<\/jats:p>","DOI":"10.1002\/ajmg.1320100109","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:38:42Z","timestamp":1118511522000},"page":"65-75","source":"Crossref","is-referenced-by-count":49,"title":["Familial cutaneous amyloidosis with systemic manifestations in males"],"prefix":"10.1002","volume":"10","author":[{"given":"M. W.","family":"Partington","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. J.","family":"Marriott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. S. A.","family":"Prentice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Cavaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. E.","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_2","unstructured":"GoshM McCullochC:Salzmann's nodular degeneration of the cornea: A light and electron microscopic study of two cases. Presentation to the Canadian Ophthalmic Pathology Study Group Kingston Ontario June 1976."},{"key":"e_1_2_1_3_2","unstructured":"CavagliaA:Male survival with lack of chromosomal instability as an index of the existence of a new variant of incontinentia pigmenti. BSc Thesis Department of Biology Queen's University Kingston Ontario 1978."},{"key":"e_1_2_1_4_2","first-page":"56","article-title":"Cassure chromosomiques dans l'incontinentia pigmenti","volume":"20","author":"Emerit I","year":"1979","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0008-8749(79)90159-X"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1976.01630280059017"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1976.tb00835.x"},{"key":"e_1_2_1_8_2","first-page":"1062","volume-title":"Dermatology in General Medicine","author":"Calkins E","year":"1979"},{"key":"e_1_2_1_9_2","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1001\/archderm.1970.04000070010002","article-title":"The cutaneous amyloidoses. I: Localised forms","volume":"102","author":"Brownstein MM","year":"1970","journal-title":"Arch Derm (Chicago)"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1972.tb00319.x"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1973.tb06667.x"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1159\/000250794"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1971.tb14208.x"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1963.01590140033005"},{"key":"e_1_2_1_15_2","first-page":"413","article-title":"Genodermatoses in Singapore: A genetic study of certain skin diseases","volume":"7","author":"Tay CH","year":"1971","journal-title":"Asian J Med"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1972.tb16186.x"},{"key":"e_1_2_1_17_2","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1001\/archderm.1978.01640200027007","article-title":"Familial primary cutaneous amyloidosis","volume":"914","author":"Vasily DB","year":"1978","journal-title":"Arch Derm (Chicago)"},{"key":"e_1_2_1_18_2","first-page":"189","volume-title":"Diseases of the Cornea","author":"Grayson M","year":"1979"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.53.2.73"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80832-X"},{"key":"e_1_2_1_21_2","unstructured":"McCullochC: Personal communication.1979."}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320100109","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320100109","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T03:48:07Z","timestamp":1699847287000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320100109"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,1]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1981,1]]}},"alternative-id":["10.1002\/ajmg.1320100109"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320100109","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1981,1]]}}}