{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T14:03:28Z","timestamp":1761487408446},"reference-count":75,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4724,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>It has been postulated that the phakomatoses are paracrine growth regulation disorders (paracrinopathies). To determine how Jadassohn nevus phakomatosis (JNP) may fit such a pathogenetic model, a phenotype analysis of 13 propositi with JNP and a review of most reported JNP patients were done. The phenotypes of the propositi and the reviewed patients showed a great variability from a solitary congenital epidermal nevus to extensive cutaneous lesions with associated severe noncutaneous anomafies. Review of long\u2010term observations of JNP patients demonstrated considerable phenotypic changes within and beyond the boundaries of the nevi. The changes included a multitude of postnatal rare benign and\/or malignant tumors and unusual manifestations: renal rickets, hepatomegaly, visceral cysts, vasculopathy, and even gangrene. Thus, a life\u2010long predisposition to dysregulation of paracrine growth factors (GFs, regulatory peptides, peptide regulatory factors, and cytokines), foremost somatomedin\u2010C (Sm\u2010C, IGF\u2010I), epidermal, fibroblast, platelet\u2010derived GFs, and transforming GF\u2010\u03b2 is implied. Laboratory evidence for the presumed GF dysregulation in the phakomatoses came from tissue culture study of patients with neuro\u2010fibromatosis type 1 (NF\u20101). Compared to controls their \u201cnormal\u201d skin showed ultrastructural changes of markedly increased number of melanin macroglobuli within the melanocytes. Paracrine GFs as relevant to hamartomatous growth were incriminated by radioimmunoassays of cutaneous neurofibromas showing two\u2010fold or greater increase of Sm\u2010C levels compared to the levels in the adjacent skin. Thus, NF\u20101 appears to be a paracrinopathy. JNP shows many more dynamic changes throughout the life span of the patients than NF\u20101. In the near future paracrinology may aid endocrinology and oncology in treating patients with disorders of these three growth mechanisms in man. \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320430402","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:43:49Z","timestamp":1118551429000},"page":"651-661","source":"Crossref","is-referenced-by-count":25,"title":["Hypothesis: Jadassohn nevus phakomatosis: A paracrinopathy with variable phenotype"],"prefix":"10.1002","volume":"43","author":[{"given":"Boris G.","family":"Kousseff","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/256322a0"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(68)90260-6"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410200308"},{"key":"e_1_2_1_5_1","first-page":"A47","article-title":"Linear nevus syndrome: Investigation of atypical case and comparison with neurocutaneous syndromes","volume":"37","author":"Bronfin D","year":"1985","journal-title":"Am J Hum Genet Suppl"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(80)90225-1"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1524-4725.1987.tb02433.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1964.01600050031007"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(88)80356-6"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00690373"},{"key":"e_1_2_1_11_1","volume-title":"L'embryologie de l'oeil et sa t\u00e9ratologie","author":"Dejean C","year":"1958"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.1041330418"},{"key":"e_1_2_1_13_1","first-page":"229","article-title":"Zur Histogenese des Naevus syringo\u2010cystadenomatosus papilliferus","volume":"100","author":"D\u00f6rffel J","year":"1935","journal-title":"Dermatol Wochenschr"},{"key":"e_1_2_1_14_1","first-page":"105","article-title":"Zur Genese epithelialer Hauttumoren","volume":"19","author":"Fischer H","year":"1926","journal-title":"Zentralbl Hautkr"},{"key":"e_1_2_1_15_1","series-title":"Ann NY Acad Sci","first-page":"403","volume-title":"Neurofibromatosis","author":"Frankel JW","year":"1986"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12261648"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0303-7207(87)90027-X"},{"key":"e_1_2_1_18_1","first-page":"330","article-title":"Varieties of expression of tuberous sclerosis","volume":"1","author":"Gomez MR","year":"1988","journal-title":"Neurofibromatosis"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.1041330405"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1970.00480200050005"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19850515)55:10<2434::AID-CNCR2820551022>3.0.CO;2-A"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.107.4.1611"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.3109\/02844318809097929"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(87)80249-9"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.22.8.879"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80502-4"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1970.tb15000.x"},{"key":"e_1_2_1_28_1","first-page":"37","article-title":"Cultured neurofibromatosis tumor fibrobalsts lack beta\u2010adrenergic receptors","volume":"1","author":"Kaila T","year":"1988","journal-title":"Neurofibromatosis"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(87)33244-0"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00510091"},{"key":"e_1_2_1_31_1","first-page":"108","article-title":"Die 31\u2010P\u2010Spektroskopie als Methode der Untersuchung biochemischer Ver\u00e4nderungen in Hauttumoren: am Beispiel des malignen Melanoms und des Plattenepithelcarcinoms","volume":"63","author":"Kiricuta IC","year":"1988","journal-title":"Z Hautkr"},{"key":"e_1_2_1_32_1","unstructured":"KisselP BeureyJ(1953)Le g\u00e9no\u2010neuro\u2010dermatoses. 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