Medicine:Scalp–ear–nipple syndrome

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Scalp–ear–nipple syndrome
Other namesFinlay-Marks syndrome
Autosomal dominant - en.svg
Scalp–ear–nipple syndrome is inherited in an autosomal dominant manner[1]

Scalp–ear–nipple (SEN) syndrome (also known as "Finlay–Marks syndrome") is a condition associated with aplasia cutis congenita.[2]

Presentation

The key affected features of this condition[3] 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 pinnae 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[4] include:

Genetics

Candidate genes were identified for SEN syndrome by probing gene expression databases using simple descriptors of the main organs affected.[10] SEN syndrome is caused by potassium-channel tetramerization-domain-containing 1 (KCTD1) mutations.[11] 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.[11]

Smaldone et al. have described the molecular basis for the SEN syndrome.[12] Hu et al. have identified a mechanism whereby disease related KCTD1 mutants and AP 2α mutants may work, by disrupting their interaction with the wildtype proteins AP 2α and KCTD1 and by influencing the regulation of the Wnt/β catenin pathway.[13]

Inheritance

It is likely that this syndrome is inherited in an autosomal dominant fashion,[5][14] however, there may be a recessive form with hypotonia and developmental delay.[15]

Diagnosis

Treatment

A surgical operation has been described for breast reconstruction in a female with SEN syndrome.[16] As the molecular basis of the SEN syndrome has been described, this may point the way to possible therapy in the future.[17]

Epidemiology

The original report was of a family in Cardiff, United Kingdom .[3] There are subsequent reports of patients from the United States ,[4][14][18][19][20] France ,[7][8][9] Australia ,[5] UAE,[15] India [21] and Cuba.[22]

Etymology

The syndrome was first described by Finlay and Marks as "An hereditary syndrome of lumpy scalp, odd ears and absent nipples".[3] It was termed "The Finlay-Marks (S.E.N.) Syndrome" by Aase in 1987,[23] "the Finlay Syndrome" by Le Merrer in 1991,[8] the "Scalp-Ear-Nipple Syndrome" by Edwards in 1994,[5] and "Finlay-Marks Syndrome" by Plessis in 1991.[7] 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".[24]

See also

References

  1. ↑ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Scalp ear nipple syndrome" (in en). http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2036. 
  2. ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 892. ISBN 978-1-4160-2999-1. 
  3. ↑ 3.0 3.1 3.2 3.3 "An hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples". Br J Dermatol 99 (4): 423–30. Oct 1978. doi:10.1111/j.1365-2133.1978.tb06182.x. PMID 708615. 
  4. ↑ 4.0 4.1 4.2 4.3 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.
  5. ↑ 5.0 5.1 5.2 5.3 5.4 "Scalp-ear-nipple syndrome: additional manifestations". Am J Med Genet 50 (3): 247–50. Apr 1994. doi:10.1002/ajmg.1320500307. PMID 8042668. 
  6. ↑ "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. Apr 2005. doi:10.1002/ajmg.a.30612. PMID 15712197. https://escholarship.org/uc/item/23s4g4ff.  Erratum in: Am J Med Genet A 2005 Jul 1;136(1):114-5.
  7. ↑ 7.0 7.1 7.2 7.3 "Scalp defect, absence of nipples, ear anomalies, renal hypoplasia: another case of Finlay-Marks syndrome". Clin Genet 52 (4): 231–4. Oct 1997. doi:10.1111/j.1399-0004.1997.tb02553.x. PMID 9383029. 
  8. ↑ 8.0 8.1 8.2 "Scalp defect, nipples absence and ears abnormalities: an other case of Finlay syndrome". Genet Couns 2 (4): 233–6. 1991. PMID 1799422. 
  9. ↑ 9.0 9.1 "Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement". Clin Genet 56 (2): 170–2. Aug 1999. doi:10.1034/j.1399-0004.1999.560216.x. PMID 10517259. 
  10. ↑ "Probing the gene expression database for candidate genes". Eur J Hum Genet 7 (8): 910–9. Dec 1999. doi:10.1038/sj.ejhg.5200405. PMID 10602367. 
  11. ↑ 11.0 11.1 "Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome". The American Journal of Human Genetics 92 (4): 621–6. 2013. doi:10.1016/j.ajhg.2013.03.002. PMID 23541344. 
  12. ↑ Smaldone G, Balasco N, Pirone L et al. Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants. Sci Rep 2019; 9: 10519. https://doi.org/10.1038/s41598-019-46911-4
  13. ↑ Hu L, Chen i, Yang L, Ye Z, Huang W, Li X, Liu Q, Qiu J, Ding X. KCTD1 mutants in scalp ear nipple syndrome and AP 2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β catenin signaling. Molecular Medicine Reports 2020; 22: 3895-3903
  14. ↑ 14.0 14.1 "Am J Med Genet A 2005 Apr 15;134A(2) 220-2. Review. Erratum". Am J Med Genet A 136 (1): 114–5. Jul 2005. doi:10.1002/ajmg.a.30781. 
  15. ↑ 15.0 15.1 "Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab family". Clin Dysmorphol 16 (2): 105–7. Apr 2007. doi:10.1097/mcd.0b013e3280147217. PMID 17351354. 
  16. ↑ Ito R, Yamamoto Y, Maeda T, Ishikawa K, Funayama E. Breast reconstruction via fat grafting for a patient with bilateral congenital amastia (Finlay-Marks syndrome). Congenital Anomalies 2021; 61: 142-143
  17. ↑ Smaldone, G., Balasco, N., Pirone, L. et al. Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants. Sci Rep 2019; 9: 10519. https://doi.org/10.1038/s41598-019-46911-4
  18. ↑ "Lumpy scalp syndrome". Int J Dermatol 29 (9): 657–8. Nov 1990. doi:10.1111/j.1365-4362.1990.tb02591.x. PMID 2272740. 
  19. ↑ "Finlay-Marks syndrome: another sporadic case and additional manifestations". Pediatr Int 46 (3): 353–5. Jun 2004. doi:10.1111/j.1442-200x.2004.01905.x. PMID 15151556. 
  20. ↑ "Stahl ear deformity associated with Finlay-Marks syndrome". Ear Nose Throat J 89 (6): 256–7. Jun 2010. doi:10.1177/014556131008900606. PMID 20556735. 
  21. ↑ "Finlay-Marks syndrome: report of two siblings and review of literature". Am J Med Genet A 158A (7): 1696–701. Jul 2012. doi:10.1002/ajmg.a.35389. PMID 22639454. 
  22. ↑ "Scalp-ear-nipple syndrome: a case report". Case Rep Med 2014: 785916. 2014. doi:10.1155/2014/785916. PMID 24660003. 
  23. ↑ Aase JM (1987). "The Finlay-Marks (S.E.N.) Syndrome: report of a new case and review of the literature". Proceedings of the Greenwood Genetic Center 7: 177–8. 
  24. ↑ OMIM. Online Mendelian Inheritance in Man. http://www.omim.org/ Accessed 26 August 2012.

External links

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