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| {{Infobox medical condition
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| | Name = Scalp–ear–nipple syndrome
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| | DiseasesDB = 33575
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| | OMIM = 181270
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| '''Scalp–ear–nipple syndrome''' (also known as "Finlay–Marks syndrome") is a condition associated with [[aplasia cutis congenita]].<ref name="Bolognia">{{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages=892 |isbn=1-4160-2999-0 |oclc= |doi= |accessdate=}}</ref>
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| ==Clinical features==
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| The key affected features of this condition<ref name="ReferenceA">{{cite journal | vauthors = Finlay AY, Marks R | date = Oct 1978 | title = An hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples | url = | journal = Br J Dermatol | volume = 99 | issue = 4| pages = 423–30 | doi=10.1111/j.1365-2133.1978.tb06182.x}}</ref> are described in its name.
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| Scalp: There are raised nodules over the posterior aspect of the scalp, covered by scarred non-hair bearing skin.
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| Ears: The shape of the pinnae is abnormal, with the superior edge of the pinna being turned over more than usual. The size of the tragus, antitragus and lobule may be small.
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| Nipples: The nipples are absent or rudimentary. The breasts may be small or virtually absent.
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| '''Other features of the condition'''<ref name="ReferenceB">Sobreira NL, Brunoni D, Cernach MC, Perez AB. Finlay-Marks (SEN) syndrome: a sporadic case and the delineation of the syndrome. Am J Med Genet A 2006 Feb 1;140(3):300-2.</ref> include:
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| Dental abnormalities: missing or widely spaced teeth<ref name="ReferenceC">{{cite journal | vauthors = Edwards MJ, McDonald D, Moore P, Rae J | date = Apr 1994 | title = Scalp-ear-nipple syndrome: additional manifestations | url = | journal = Am J Med Genet | volume = 50 | issue = 3| pages = 247–50 | doi=10.1002/ajmg.1320500307}}</ref>
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| Syndactyly: toes or fingers may be partially joined proximally <ref name="ReferenceA"/><ref name="ReferenceB"/><ref name="ReferenceC"/><ref name="Baris H, Tan WH, Kimonis VE 220–2">{{cite journal | vauthors = Baris H, Tan WH, Kimonis VE | date = Apr 2005 | title = Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature | url = | journal = Am J Med Genet A | volume = 134A | issue = 2| pages = 220–2 }} Erratum in: Am J Med Genet A 2005 Jul 1;136(1):114-5.</ref>
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| Renal abnormalities: renal hypoplasia,<ref name="Plessis G, Le Treust M, Le Merrer M 231–4">{{cite journal | vauthors = Plessis G, Le Treust M, Le Merrer M | date = Oct 1997 | title = Scalp defect, absence of nipples, ear anomalies, renal hypoplasia: another case of Finlay-Marks syndrome | url = | journal = Clin Genet | volume = 52 | issue = 4| pages = 231–4 | doi=10.1111/j.1399-0004.1997.tb02553.x}}</ref><ref name="Le Merrer M, Renier D, Briard ML 1991 233–6">{{cite journal | vauthors = Le Merrer M, Renier D, Briard ML | year = 1991 | title = Scalp defect, nipples absence and ears abnormalities: an other case of Finlay syndrome | url = | journal = Genet Couns | volume = 2 | issue = 4| pages = 233–6 }}</ref> pyeloureteral duplication <ref name="Picard C, Couderc S, Skojaei T, Salomon R, de Lonlay P, Le Merrer M, Munnich A, Lyonnet S, Amiel J 170–2">{{cite journal | vauthors = Picard C, Couderc S, Skojaei T, Salomon R, de Lonlay P, Le Merrer M, Munnich A, Lyonnet S, Amiel J | date = Aug 1999 | title = Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement | url = | journal = Clin Genet | volume = 56 | issue = 2| pages = 170–2 | doi=10.1034/j.1399-0004.1999.560216.x}}</ref>
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| Eye abnormalities: Cataract,<ref name="Plessis G, Le Treust M, Le Merrer M 231–4"/> coloboma of the iris and asymmetric pupils.<ref name="ReferenceB"/>
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| ==Inheritance==
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| It is likely that this syndrome is inherited in an autosomal dominant fashion,<ref name="ReferenceC"/><ref name="Baris H, Tan WH, Hypothelia Kimonis VE 114–5">{{cite journal | vauthors = Baris H, Tan WH, Hypothelia Kimonis VE | date = Jul 2005 | title = ''Am J Med Genet A'' 2005 Apr 15;134A(2) 220-2. Review. Erratum | url = | journal = Am J Med Genet A | volume = 136 | issue = 1| pages = 114–5 }}</ref> however there may be a recessive form with hypotonia and developmental delay.<ref name="Al-Gazali L, Nath R, Iram D, Al Malik H 105–7">{{cite journal | vauthors = Al-Gazali L, Nath R, Iram D, Al Malik H | date = Apr 2007 | title = Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab family | url = | journal = Clin Dysmorphol | volume = 16 | issue = 2| pages = 105–7 | doi=10.1097/mcd.0b013e3280147217}}</ref>
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| ==Genetics==
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| Candidate genes were identified for the Finlay-Marks Syndrome by probing gene expression databases using simple descriptors of the main organs affected.<ref>{{cite journal | vauthors = Van Steensel MA, Celli J, van Bokhoven JH, Brunner HG | date = Dec 1999 | title = Probing the gene expression database for candidate genes | url = | journal = Eur J Hum Genet | volume = 7 | issue = 8| pages = 910–9 | doi=10.1038/sj.ejhg.5200405}}</ref> Scalp-Ear Nipple Syndrome is caused by potassium-channel tetramerization-domain-containing 1 (KCTD1) mutations.<ref name="Marneros AG et al. 2013 1–6">{{cite journal |vauthors=Marneros AG, etal | year = 2013 | title = Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome | doi = 10.1016/j.ajhg.2013.03.002| journal = The American Journal of Human Genetics | volume = 92 | issue = | pages = 621–6 }}</ref> Evaluation of ten families affected by SEN syndrome revealed KCTD1 missense mutations in each family tested. All of the mutations occurred in a KCTD1 region encoding a highly conserved bric-a-brac, tram track, and broad complex (BTB) domain that is required for transcriptional repressor activity. The identification of KCTD1 mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development.<ref name="Marneros AG et al. 2013 1–6"/>
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| ==Epidemiology==
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| The original report was of a family in Cardiff, United Kingdom.<ref name="ReferenceA"/> There are subsequent reports of patients from the USA,<ref name="ReferenceB"/><ref name="Baris H, Tan WH, Hypothelia Kimonis VE 114–5"/><ref>{{cite journal | vauthors = Steinberg RD, Ethington J, Esterly NB | date = Nov 1990 | title = Lumpy scalp syndrome | url = | journal = Int J Dermatol | volume = 29 | issue = 9| pages = 657–8 | doi=10.1111/j.1365-4362.1990.tb02591.x}}</ref><ref>{{cite journal | vauthors = Taniai H, Chen H, Ursin S | date = Jun 2004 | title = Finlay-Marks syndrome: another sporadic case and additional manifestations | url = | journal = Pediatr Int. | volume = 46 | issue = 3| pages = 353–5 | doi=10.1111/j.1442-200x.2004.01905.x}}</ref><ref>{{cite journal | vauthors = Paik YS, Chang CW | date = Jun 2010 | title = Stahl ear deformity associated with Finlay-Marks syndrome | url = | journal = Ear Nose Throat J. | volume = 89 | issue = 6| pages = 256–7 }}</ref> France,<ref name="Plessis G, Le Treust M, Le Merrer M 231–4"/><ref name="Le Merrer M, Renier D, Briard ML 1991 233–6"/><ref name="Picard C, Couderc S, Skojaei T, Salomon R, de Lonlay P, Le Merrer M, Munnich A, Lyonnet S, Amiel J 170–2"/> Australia,<ref name="ReferenceC"/> UAE,<ref name="Al-Gazali L, Nath R, Iram D, Al Malik H 105–7"/> India<ref name="Naik P, Kini P, Chopra D, Gupta Y 1696–701">{{cite journal | vauthors = Naik P, Kini P, Chopra D, Gupta Y | date = Jul 2012 | title = Finlay-Marks syndrome: report of two siblings and review of literature | url = | journal = Am J Med Genet A | volume = 158A | issue = 7| pages = 1696–701 | doi=10.1002/ajmg.a.35389}}</ref> and from Cuba.<ref>{{cite journal | vauthors = Morales-Perelta E, Andres V, Campillo Betancourt D | year = 2014 | title = Scalp-ear-nipple syndrome: a case report | url = | journal = Case Rep Med | volume = 2014 | issue = | page = 785916 | doi=10.1155/2014/785916}}</ref>
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| ==Names==
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| The syndrome was first described by Finlay and Marks as “An hereditary syndrome of lumpy scalp, odd ears and absent nipples”.<ref name="ReferenceA"/> It was termed "The Finlay-Marks (S.E.N.) Syndrome" by Aase in 1987,<ref name="Aase JM 1987 177–8">{{cite journal | author = Aase JM | year = 1987 | title = The Finlay-Marks (S.E.N.) Syndrome: report of a new case and review of the literature | url = | journal = Proc Greenwood Genetic Center | volume = 7 | issue = | pages = 177–8 }}</ref> “the Finlay Syndrome” by Le Merrer in 1991,<ref name="Le Merrer M, Renier D, Briard ML 1991 233–6"/> the “Scalp-Ear-Nipple Syndrome” by Edwards in 1994,<ref name="ReferenceC"/> and “Finlay-Marks Syndrome” by Plessis in 1991.<ref name="Plessis G, Le Treust M, Le Merrer M 231–4"/>
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| The OMIM number OMIM 181270 was assigned in 1987 by Victor A McKusick with the name “Scalp-Ear-Nipple Syndrome” and alternative names “Finlay-Marks Syndrome” and “SEN Syndrome”.<ref name="omim.org">OMIM. Online Mendelian Inheritance in Man. http://www.omim.org/ Accessed 26 August 2012.</ref>
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| ==Further information==
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| The syndrome is described in detail on the OMIM website.<ref name="omim.org"/> There are several published reviews of the syndrome.<ref name="ReferenceB"/><ref name="Baris H, Tan WH, Kimonis VE 220–2"/><ref name="Naik P, Kini P, Chopra D, Gupta Y 1696–701"/><ref name="Aase JM 1987 177–8"/><ref>{{cite journal | author = Sonoda T | year = 2001 | title = Scalp-ear-nipple syndrome | url = | journal = Ryoikibetsu Shokogun Shirizu | volume = 34 | issue = 2| pages = 606–7 }}</ref>
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| == See also ==
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| * [[Say syndrome]]
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| * [[List of cutaneous conditions]]
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| == References ==
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| {{reflist}}
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| {{DEFAULTSORT:Scalp-ear-nipple syndrome}}
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| [[Category:Genodermatoses]]
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| [[Category:Genetic disorders with OMIM but no gene]]
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