Scalp–ear–nipple syndrome

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

Presentation

The key affected features of this condition 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 include: Dental abnormalities: missing or widely spaced teeth Syndactyly: toes or fingers may be partially joined proximally Renal abnormalities: renal hypoplasia, pyeloureteral duplication Eye abnormalities: Cataract, coloboma of the iris and asymmetric pupils.

Genetics

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

Inheritance

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

Epidemiology

The original report was of a family in Cardiff, United Kingdom. There are subsequent reports of patients from the USA, France, Australia, UAE, India and from Cuba.

Etymology

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

See also

• Say syndrome
• List of cutaneous conditions

External links

Classification	ICD-10: Q87.8 OMIM: 181270 MeSH: C536623 DiseasesDB: 33575
External resources	Orphanet: 2036