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Scalp–ear–nipple syndrome

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Scalp–ear–nipple syndrome

Scalp–ear–nipple syndrome (also known as "Finlay–Marks syndrome") is a condition associated with aplasia cutis congenita.[1]

Clinical features

The key affected features of this condition[2] are described in its name.

Scalp: There are raised nodules over the posterior aspect of the scalp, covered by scarred non-hair bearing skin.

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.

Nipples: The nipples are absent or rudimentary. The breasts may be small or virtually absent.

Other features of the condition[3] include: Dental abnormalities: missing or widely spaced teeth[4] Syndactyly: toes or fingers may be partially joined proximally [2][3][4][5] Renal abnormalities: renal hypoplasia,[6][7] pyeloureteral duplication [8] Eye abnormalities: Cataract,[6] coloboma of the iris and asymmetric pupils.[3]

Inheritance

It is likely that this syndrome is inherited in an autosomal dominant fashion,[4][9] however there may be a recessive form with hypotonia and developmental delay.[10]

Genetics

Candidate genes were identified for the Finlay-Marks Syndrome by probing gene expression databases using simple descriptors of the main organs affected.[11] Scalp-Ear Nipple Syndrome is caused by potassium-channel tetramerization-domain-containing 1 (KCTD1) mutations.[12] 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.[12]

Epidemiology

The original report was of a family in Cardiff, United Kingdom.[2] There are subsequent reports of patients from the USA,[3][9][13][14][15] France,[6][7][8] Australia,[4] UAE,[10] India[16] and from Cuba.[17]

Names

The syndrome was first described by Finlay and Marks as “An hereditary syndrome of lumpy scalp, odd ears and absent nipples”.[2] It was termed "The Finlay-Marks (S.E.N.) Syndrome" by Aase in 1987,[18] “the Finlay Syndrome” by Le Merrer in 1991,[7] the “Scalp-Ear-Nipple Syndrome” by Edwards in 1994,[4] and “Finlay-Marks Syndrome” by Plessis in 1991.[6]

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”.[19]

Further information

The syndrome is described in detail on the OMIM website.[19] There are several published reviews of the syndrome.[3][5][16][18][20]

See also

References

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 892. ISBN 1-4160-2999-0.
  2. ^ a b c d Finlay AY, Marks R (Oct 1978). "An hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples". Br J Dermatol. 99 (4): 423–30. doi:10.1111/j.1365-2133.1978.tb06182.x.
  3. ^ a b c d e 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.
  4. ^ a b c d e Edwards MJ, McDonald D, Moore P, Rae J (Apr 1994). "Scalp-ear-nipple syndrome: additional manifestations". Am J Med Genet. 50 (3): 247–50. doi:10.1002/ajmg.1320500307.
  5. ^ a b Baris H, Tan WH, Kimonis VE (Apr 2005). "Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature". Am J Med Genet A. 134A (2): 220–2. Erratum in: Am J Med Genet A 2005 Jul 1;136(1):114-5.
  6. ^ a b c d Plessis G, Le Treust M, Le Merrer M (Oct 1997). "Scalp defect, absence of nipples, ear anomalies, renal hypoplasia: another case of Finlay-Marks syndrome". Clin Genet. 52 (4): 231–4. doi:10.1111/j.1399-0004.1997.tb02553.x.
  7. ^ a b c Le Merrer M, Renier D, Briard ML (1991). "Scalp defect, nipples absence and ears abnormalities: an other case of Finlay syndrome". Genet Couns. 2 (4): 233–6.
  8. ^ a b Picard C, Couderc S, Skojaei T, Salomon R, de Lonlay P, Le Merrer M, Munnich A, Lyonnet S, Amiel J (Aug 1999). "Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement". Clin Genet. 56 (2): 170–2. doi:10.1034/j.1399-0004.1999.560216.x.
  9. ^ a b Baris H, Tan WH, Hypothelia Kimonis VE (Jul 2005). "Am J Med Genet A 2005 Apr 15;134A(2) 220-2. Review. Erratum". Am J Med Genet A. 136 (1): 114–5.
  10. ^ a b Al-Gazali L, Nath R, Iram D, Al Malik H (Apr 2007). "Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab family". Clin Dysmorphol. 16 (2): 105–7. doi:10.1097/mcd.0b013e3280147217.
  11. ^ Van Steensel MA, Celli J, van Bokhoven JH, Brunner HG (Dec 1999). "Probing the gene expression database for candidate genes". Eur J Hum Genet. 7 (8): 910–9. doi:10.1038/sj.ejhg.5200405.
  12. ^ a b Marneros AG, et al. (2013). "Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome". The American Journal of Human Genetics. 92: 621–6. doi:10.1016/j.ajhg.2013.03.002.
  13. ^ Steinberg RD, Ethington J, Esterly NB (Nov 1990). "Lumpy scalp syndrome". Int J Dermatol. 29 (9): 657–8. doi:10.1111/j.1365-4362.1990.tb02591.x.
  14. ^ Taniai H, Chen H, Ursin S (Jun 2004). "Finlay-Marks syndrome: another sporadic case and additional manifestations". Pediatr Int. 46 (3): 353–5. doi:10.1111/j.1442-200x.2004.01905.x.
  15. ^ Paik YS, Chang CW (Jun 2010). "Stahl ear deformity associated with Finlay-Marks syndrome". Ear Nose Throat J. 89 (6): 256–7.
  16. ^ a b Naik P, Kini P, Chopra D, Gupta Y (Jul 2012). "Finlay-Marks syndrome: report of two siblings and review of literature". Am J Med Genet A. 158A (7): 1696–701. doi:10.1002/ajmg.a.35389.
  17. ^ Morales-Perelta E, Andres V, Campillo Betancourt D (2014). "Scalp-ear-nipple syndrome: a case report". Case Rep Med. 2014: 785916. doi:10.1155/2014/785916.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  18. ^ a b Aase JM (1987). "The Finlay-Marks (S.E.N.) Syndrome: report of a new case and review of the literature". Proc Greenwood Genetic Center. 7: 177–8.
  19. ^ a b OMIM. Online Mendelian Inheritance in Man. http://www.omim.org/ Accessed 26 August 2012.
  20. ^ Sonoda T (2001). "Scalp-ear-nipple syndrome". Ryoikibetsu Shokogun Shirizu. 34 (2): 606–7.
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