{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T14:34:55Z","timestamp":1787841295855,"version":"build-2784847793"},"reference-count":20,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:p>\n                    Galli Galli disease (GGD) is the name given to a rare form of acantholytic Dowling-Degos disease. (DDD), the latter itself being a rare condition. We believe we are describing for the first time in Indian dermatologic literature a case of GGD in a family where 25 persons have DDD and have been able to document a KRT5 mutation in four members of the family. Whereas reticulate pigmentation is a hallmark of DDD there are rare reports of mottled pigmentation with multiple asymptomatic hypopigmented macules scattered diffusely along with the pigmentation. All the cases described here show a mottled pigmentation comprising hypo and hyperpigmented asymptomatic macules. After the clinical diagnosis was made by one of the authors (SV) in India, the German authors repeated histological examination and successfully demonstrated a heterozygous nonsense mutation, c.C10T (p.Gln4X), in exon 1 of the\n                    <jats:italic toggle=\"yes\">KRT5<\/jats:italic>\n                    gene, from various centers in Munich, Bonn, Dusseldorf and Friedrichschafen in Germany.\n                  <\/jats:p>","DOI":"10.4103\/0019-5154.139884","type":"journal-article","created":{"date-parts":[[2014,9,2]],"date-time":"2014-09-02T08:29:26Z","timestamp":1409646566000},"page":"476-480","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":7,"title":["The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family"],"prefix":"10.4103","volume":"59","author":[{"given":"Shyam","family":"Verma","sequence":"first","affiliation":[{"name":"From the Nirvana Skin Clinic, Vadodara, Gujarat, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra M.","family":"Pasternack","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Bonn, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arno","family":"R\u00fctten","sequence":"additional","affiliation":[{"name":"Laboratory of Dermatohistopathology, Friedrichshafen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Ruzicka","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Ludwig-Maximilian's University of Munich, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina C.","family":"Betz","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Bonn, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Hanneken","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of D\u00fcsseldorf, Medical Faculty, D-40225 D\u00fcsseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20250920","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1111\/j.1365-2133.2010.09741.x","article-title":"Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease","volume":"163","author":"Hanneken","year":"2010","journal-title":"Br J Dermatol"},{"key":"R2-20250920","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1007\/s00105-011-2222-x","article-title":"Galli-Galli disease: Clinical and histopathological investigation using a case series of 18 patients","volume":"62","author":"Hanneken","year":"2011","journal-title":"Hautarzt"},{"issue":"56 Suppl 5","key":"R3-20250920","doi-asserted-by":"crossref","first-page":"S86","DOI":"10.1016\/j.jaad.2006.10.987","article-title":"The expanding spectrum of Galli-Galli disease","author":"El Shabrawi-Caelen","year":"2007","journal-title":"J Am Acad Dermatol"},{"key":"R4-20250920","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1111\/j.1600-0560.2008.00995.x","article-title":"Changing a concept-controversy on the confusing spectrum of the reticulate pigmented disorders of the skin","volume":"36","author":"M\u00fcller","year":"2009","journal-title":"J Cutan Pathol"},{"key":"R5-20250920","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1067\/mjd.2001.116340","article-title":"Galli-Galli disease: An unrecognized entity or an acantholytic variant of Dowling-Degos disease?","volume":"45","author":"Braun-Falco","year":"2001","journal-title":"J Am Acad Dermatol"},{"key":"R6-20250920","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1016\/j.jaad.2009.11.015","article-title":"Dowling-Degos disease presenting as hypopigmented macules","volume":"64","author":"Pickup","year":"2011","journal-title":"J Am Acad Dermatol"},{"key":"R7-20250920","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1111\/j.1468-3083.2011.04115.x","article-title":"A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease","volume":"26","author":"Guo","year":"2011","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"R8-20250920","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.jaad.2006.12.023","article-title":"Generalized Dowling-Degos disease","volume":"57","author":"Wu","year":"2007","journal-title":"J Am Acad Dermatol"},{"key":"R9-20250920","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/j.ajhg.2013.04.022","article-title":"Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease","volume":"92","author":"Li","year":"2013","journal-title":"Am J Hum Genet"},{"key":"R10-20250920","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1086\/500850","article-title":"Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease","volume":"78","author":"Betz","year":"2006","journal-title":"Am J Hum Genet"},{"key":"R11-20250920","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1038\/sj.jid.5700523","article-title":"A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease","volume":"127","author":"Liao","year":"2007","journal-title":"J Invest Dermatol"},{"key":"R12-20250920","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1111\/j.1365-2133.2006.07703.x","article-title":"Galli-Galli disease is an acantholytic variant of Dowling-Degos disease","volume":"156","author":"Sprecher","year":"2007","journal-title":"Br J Dermatol"},{"key":"R13-20250920","doi-asserted-by":"crossref","first-page":"9079","DOI":"10.1073\/pnas.93.17.9079","article-title":"The genetic basis of epidermolysis bullosa simplex with mottled pigmentation","volume":"93","author":"Uttam","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"R14-20250920","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1016\/j.ejcb.2007.02.004","article-title":"Identification of a keratin-associated protein with a putative role in vesicle transport","volume":"86","author":"Planko","year":"2007","journal-title":"Eur J Cell Biol"},{"key":"R15-20250920","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1111\/j.1365-2230.2011.04088.x","article-title":"Postinflammatory hypopigmentation","volume":"36","author":"Vachiramon","year":"2011","journal-title":"Clin Exp Dermatol"},{"key":"R16-20250920","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1111\/j.1600-0625.2009.00896.x","article-title":"A review of genetic disorders of hypopigmentation: Lessons learned from the biology of melanocytes","volume":"18","author":"Dessinioti","year":"2009","journal-title":"Exp Dermatol"},{"key":"R17-20250920","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/S1085-5629(97)80034-X","article-title":"Postinflammatory hypopigmentation and hyperpigmentation","volume":"16","author":"Ruiz-Maldonado","year":"1997","journal-title":"Semin Cutan Med Surg"},{"key":"R18-20250920","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1111\/j.1365-4362.1995.tb04438.x","article-title":"Hypopigmented macules in acantholytic disorders","volume":"34","author":"Rowley","year":"1995","journal-title":"Int J Dermatol"},{"key":"R19-20250920","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1684\/ejd.2012.1829","article-title":"The spectrum of reticulate pigment disorders of the skin revisited","volume":"22","author":"M\u00fcller","year":"2012","journal-title":"Eur J Dermatol"},{"key":"R20-20250920","first-page":"41","article-title":"Presentation of reticulate acropigmentation of kitamura and Dowling-Degos disease overlap","volume":"5","author":"Tang","year":"2012","journal-title":"J Clin Aesthet Dermatol"}],"container-title":["Indian Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00076423-201459050-00010","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T13:48:59Z","timestamp":1787838539000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00076423-201459050-00010"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014]]}},"URL":"https:\/\/doi.org\/10.4103\/0019-5154.139884","relation":{},"ISSN":["0019-5154","1998-3611"],"issn-type":[{"value":"0019-5154","type":"print"},{"value":"1998-3611","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9]]},"assertion":[{"value":"2014-02-01","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2014-05-01","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}