Scalp–ear–nipple (SEN) syndrome (also known as "Finlay–Marks syndrome") is a condition associated with

aplasia cutis congenita Aplasia cutis congenita is a rare disorder characterized by congenital absence of skin. Ilona J. Frieden classified ACC in 1986 into 9 groups on the basis of location of the lesions and associated congenital anomalies.Moss C, Shahidulla H. Naevi a ...

Presentation

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

Scalp The scalp is the area of the head where head hair grows. It is made up of skin, layers of connective and fibrous tissues, and the membrane of the skull. Anatomically, the scalp is part of the epicranium, a collection of structures covering th ...

: There are raised

nodules Nodule may refer to: *Nodule (geology), a small rock or mineral cluster *Manganese nodule, a metallic concretion found on the seafloor *Nodule (medicine), a small aggregation of cells *Root nodule Root nodules are found on the roots of plants, p ...

over the posterior aspect of the scalp, covered by scarred non-hair-bearing skin.

Ears In vertebrates, an ear is the organ that enables hearing and (in mammals) body balance using the vestibular system. In humans, the ear is described as having three parts: the outer ear, the middle ear and the inner ear. The outer ear co ...

: The shape of the

pinnae Pinna may refer to: Biology * Pinna (anatomy), or auricle, the outer part of the ear * ''Pinna'' (bivalve), a genus of molluscs * Pinna (botany), a primary segment of a compound leaf People Surname * Christophe Pinna (born 1968), French marti ...

is abnormal, with the superior edge of the pinnae being turned over more than usual. The size of the tragus,

antitragus The antitragus is a feature of mammalian ear anatomy. In humans, it is a small Tubercle (anatomy)#Ears, tubercle on the visible part of the ear, the Auricle (anatomy), auricle. The antitragus is located just above the earlobe and points anatomical ...

and lobule may be small.

Nipples The nipple is a raised region of tissue on the surface of the breast from which, in lactating females, milk from the mammary gland leaves the body through the lactiferous ducts to nurse an infant. The milk can flow through the nipple passively, ...

: The nipples are absent or rudimentary. The breasts may be small or virtually absent. Other features of the conditionSobreira 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. include: * Dental abnormalities, such as missing or widely spaced

teeth A tooth (: teeth) is a hard, calcified structure found in the jaws (or mouths) of many vertebrates and used to break down food. Some animals, particularly carnivores and omnivores, also use teeth to help with capturing or wounding prey, tear ...

Syndactyly Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, but is an unusual condition in humans. The term is . Classification Syndactyly can be simple or complex. * In simple syndactyly, adja ...

, where toes or fingers may be partially joined proximally Erratum in: Am J Med Genet A 2005 Jul 1;136(1):114-5. * Renal abnormalities, such as

renal hypoplasia Renal hypoplasia is a congenital abnormality in which one or both of the kidneys are hypoplasia, smaller than normal, resulting in a reduced nephron number but with normal Morphology (biology), morphology. It is defined as abnormally small kidne ...

or pyeloureteral duplication * Eye abnormalities, such as

cataracts A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision of the eye. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colours, blurry or double vision, halos around ligh ...

coloboma A coloboma (from the Greek , meaning "defect") is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is ...

of the iris, and asymmetric

pupils The pupil is a hole located in the center of the iris of the eye that allows light to strike the retina.Cassin, B. and Solomon, S. (1990) ''Dictionary of Eye Terminology''. Gainesville, Florida: Triad Publishing Company. It appears black becau ...

Genetics

Candidate genes were identified for SEN syndrome by probing

gene expression Gene expression is the process (including its Regulation of gene expression, regulation) by which information from a gene is used in the synthesis of a functional gene product that enables it to produce end products, proteins or non-coding RNA, ...

databases using simple descriptors of the main organs affected. SEN 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 In molecular genetics, a repressor is a DNA- or RNA-binding protein that inhibits the expression of one or more genes by binding to the operator or associated silencers. A DNA-binding repressor blocks the attachment of RNA polymerase to the ...

during

ectodermal The ectoderm is one of the three primary germ layers formed in early embryonic development. It is the outermost layer, and is superficial to the mesoderm (the middle layer) and endoderm (the innermost layer). It emerges and originates from the o ...

development. Smaldone et al. have described the molecular basis for the SEN syndrome. 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 Catenins are a family of proteins found in complexes with cadherin cell adhesion molecules of animal cells. The first two catenins that were identified became known as α-catenin and β-catenin. α-Catenin can bind to β-catenin and can also bi ...

pathway.

Inheritance

It is likely that this syndrome is inherited in an

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

fashion, however, there may be a

recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and ...

form with

hypotonia Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but it is a potential manifestation of many different dis ...

and developmental delay.

Diagnosis

Treatment

A surgical operation has been described for

breast reconstruction Breast reconstruction is the surgical process of rebuilding the shape and look of a breast, most commonly in women who have had surgery to treat breast cancer. It involves using autologous tissue, prosthetic implants, or a combination of both wi ...

in a female with SEN syndrome. As the molecular basis of the SEN syndrome has been described, this may point the way to possible therapy in the future.

Epidemiology

The original report was of a family in

Cardiff Cardiff (; ) is the capital city, capital and List of urban areas in the United Kingdom, largest city of Wales. Cardiff had a population of in and forms a Principal areas of Wales, principal area officially known as the City and County of Ca ...

United Kingdom The United Kingdom of Great Britain and Northern Ireland, commonly known as the United Kingdom (UK) or Britain, is a country in Northwestern Europe, off the coast of European mainland, the continental mainland. It comprises England, Scotlan ...

. There are subsequent reports of patients from the US,

France France, officially the French Republic, is a country located primarily in Western Europe. Overseas France, Its overseas regions and territories include French Guiana in South America, Saint Pierre and Miquelon in the Atlantic Ocean#North Atlan ...

Australia Australia, officially the Commonwealth of Australia, is a country comprising mainland Australia, the mainland of the Australia (continent), Australian continent, the island of Tasmania and list of islands of Australia, numerous smaller isl ...

UAE The United Arab Emirates (UAE), or simply the Emirates, is a country in West Asia, in the Middle East, at the eastern end of the Arabian Peninsula. It is a federal elective monarchy made up of seven emirates, with Abu Dhabi serving as i ...

India India, officially the Republic of India, is a country in South Asia. It is the List of countries and dependencies by area, seventh-largest country by area; the List of countries by population (United Nations), most populous country since ...

and

Cuba Cuba, officially the Republic of Cuba, is an island country, comprising the island of Cuba (largest island), Isla de la Juventud, and List of islands of Cuba, 4,195 islands, islets and cays surrounding the main island. It is located where the ...

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 Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in 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".OMIM. Online Mendelian Inheritance in Man. http://www.omim.org/ Accessed 26 August 2012.

References

External links

{{DEFAULTSORT:Scalp-ear-nipple syndrome Genodermatoses Genetic disorders with OMIM but no gene Syndromes Scalp Ear Nipple