{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T20:59:02Z","timestamp":1773089942996,"version":"3.50.1"},"reference-count":9,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1992,1]]},"abstract":"<jats:p>Keratosis follicularis spinulosa decalvans (KFSD) is a rare X linked disease which is characterised by follicular hyperkeratosis of the skin and corneal dystrophy. Seven male patients and six female carriers are described. Special attention has been paid to the dermatological and ophthalmic markers of KFSD in patients and carriers. The most prominent features present in the male patients were follicular hyperkeratosis, hyperkeratosis of the calcaneal regions of the soles, scarring alopecia of the scalp, absence of eyebrows and eyelashes, and corneal dystrophy accompanied by photophobia. They also had high cuticles on the fingernails which has not been described before. Carriers often have dry skin, minimal follicular hyperkeratosis, and mild hyperkeratosis of the calcaneal areas of the soles. Mild corneal dystrophy without photophobia was observed in one female carrier.<\/jats:p>","DOI":"10.1136\/jmg.29.1.36","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"36-40","source":"Crossref","is-referenced-by-count":34,"title":["Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers."],"prefix":"10.1136","volume":"29","author":[{"given":"L D","family":"van Osch","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A P","family":"Oranje","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F M","family":"Keukens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P C","family":"van Voorst Vader","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Veldman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1992,1,1]]},"reference":[{"issue":"151","key":"ref_1","first-page":"384","article-title":"Keratosis follicularis spinulosa decalvans","volume":"1926","author":"Siemens, H.W.","unstructured":"Siemens HW. Keratosis follicularis spinulosa decalvans. Arch Dermatol Syphilol 1926;151:384-7.","journal-title":"Arch Dermatol Syphilol"},{"key":"ref_2","first-page":"520","article-title":"Genetics and ophthalmology","author":"Waardenburg, P.J.; Franceschetti, A.; Klein, D.","year":"1961","unstructured":"Waardenburg PJ, Franceschetti A, Klein D. Genetics and ophthalmology. Assen: Royal van Gorcum, 1961:520-1."},{"key":"ref_3","first-page":"1464","article-title":"Hyperkeratosis follicularis en cornea degeneratie","volume":"51","author":"Jonkers, G.H.","year":"1950","unstructured":"Jonkers GH. Hyperkeratosis follicularis en cornea degeneratie. Ned Tijdschr Geneeskd 1950;51:1464-7.","journal-title":"Ned Tijdschr Geneeskd"},{"key":"ref_4","first-page":"446","article-title":"Pityriasis rubra pilaris in childhood: a long-term study of 29 cases","volume":"6","author":"Gelmetti, C.; Schiuma, A.A.; Cerri, D.; Gianotti, F.","year":"1986","unstructured":"Gelmetti C, Schiuma AA, Cerri D, Gianotti F. Pityriasis rubra pilaris in childhood: a long-term study of 29 cases. Pediatr Dermatol 1986;6:446-51.","journal-title":"Pediatr Dermatol"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1001\/archderm.1985.01660090081019","article-title":"Ichthyosis follicularis with alopecia and photophobia","volume":"121","author":"Eramo, L.R.; Esterly, N.B.; Zieserl, E.J.; Stock, E.L.; Herrmann, J.","year":"1985","unstructured":"Eramo LR, Esterly NB, Zieserl EJ, Stock EL, Herrmann J. Ichthyosis follicularis with alopecia and photophobia. Arch Dermatol 1985;121:1167-74.","journal-title":"Arch Dermatol"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1111\/j.1365-2133.1984.tb04023.x","article-title":"Follicular ichthyosis","volume":"111","author":"Hazell, M.; Marks, R.","year":"1984","unstructured":"Hazell M, Marks R. Follicular ichthyosis. Br Dermatol 1984;111:101-9.","journal-title":"Br Dermatol"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1001\/archderm.1983.01650250026010","article-title":"Keratosis follicularis spinulosa decalvans. Report of two cases and literature review","volume":"119","author":"Rand, R.; Baden, H.P.","year":"1983","unstructured":"Rand R, Baden HP. Keratosis follicularis spinulosa decalvans. Report of two cases and literature review. Arch Dermatol 1983;119:22-6.","journal-title":"Arch Dermatol"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1159\/000303108","article-title":"Manifestations corneennes dans la keratosis follicularis spinulosa decalvans (Siemens)","volume":"133","author":"Franceschetti, A.; Jaccottet, M.; Jadassohn, W.","year":"1957","unstructured":"Franceschetti A, Jaccottet M, Jadassohn W. Manifestations corneennes dans la keratosis follicularis spinulosa decalvans (Siemens). Ophthalmologica 1957;133:259-63.","journal-title":"Ophthalmologica"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"146","DOI":"10.2340\/0001555551146150","article-title":"Keratosis follicularis spinulosa decalvans in a family from northern Finland","volume":"51","author":"Kuokkanen, K.","year":"1971","unstructured":"Kuokkanen K. Keratosis follicularis spinulosa decalvans in a family from northern Finland. Acta Dermatol Venereol 1971;51:146-50.","journal-title":"Acta Dermatol Venereol"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.29.1.36","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:51:27Z","timestamp":1760737887000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.29.1.36"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,1]]},"references-count":9,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1992,1,1]]},"published-print":{"date-parts":[[1992,1]]}},"alternative-id":["10.1136\/jmg.29.1.36"],"URL":"https:\/\/doi.org\/10.1136\/jmg.29.1.36","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,1]]}}}