Finlay–Marks Syndrome

In 1978, Finlay and Marks described the association of

scalp defect, malformed ears, and absence of nipples in

a family. The association is also known as scalp-ear-

nipple syndrome.

Synonyms and Related Disorders

Scalp-ear-nipple syndrome

Genetics/Basic Defects

1. Inheritance

a. Autosomal dominant in most reports

b. Severe autosomal recessive form: two children

from an inbred Arab family with features sug-

gestive of scalp-ear-nipple syndrome (Al-Gazali

et al. 2007)

2. Lymphoid enhancer factor-1 (Lef-1), identified as

a candidate gene for scalp-ear-nipple syndrome

(van Steensel et al. 1999)

a. Lef-1: an HMG-domain DNA-binding pro-

tein expressed in the neural crest, mesencepha-

lon, tooth germs, and other sites during

embryogenesis

b. Homozygous deficiency of this gene causing

postnatal lethality in mice

c. Mutant mice lacking teeth, mammary glands,

whiskers, and hair

d. Lack of hair, missing teeth, and aplasia of breast

tissue suggest that Lef-1may be a candidate gene

for scalp-ear-nipple syndrome

Clinical Features

1. Scalp abnormalities (Edwards et al. 1994; Taniai

et al. 2004)

a. Raised firm nodules over the scalp in the occip-

ital region, not covered by hairs

b. The areas: raw at birth and heal during

childhood

c. Crumpled scalp over occipital region

2. External ear abnormalities

a. Hypoplastic tragus, antitragus, and lobule

b. Over-folding of the superior helix

c. Flattening of the antihelix

3. Athelia (absent breasts and nipples)

a. Rudimentary or absent nipples

b. Breast hypoplasia or aplasia

4. Other reported features

a. Ectodermal dysplasia features

i. Dental anomalies

a) Widely spaced teeth

b) Missing secondary teeth

c) Neonatal teeth

ii. Reduction of axillary apocrine secretion

and axillary hair growth

iii. Hypohidrosis

iv. Nail dysplasia

b. Aplasia cutis vertices

c. Renal hypoplasia

d. Hypospadias

e. Pyeloureteral duplication

f. Cataract

g. Coloboma of the iris

h. Hypertension

i. Diabetes mellitus

j. Partial syndactyly

H. Chen, Atlas of Genetic Diagnosis and Counseling, DOI 10.1007/978-1-4614-1037-9_94,# Springer Science+Business Media, LLC 2012

843

5. Hypotonia and developmental delay in severe auto-

somal recessive form

Diagnostic Investigations

1. No specific laboratory tests available

2. Histology of scalp defect resembling aplasia cutis

congenita (Finlay and Marks 1978)

a. An excess of normal-appearing connective tissue

b. Lack pilosebaceous elements

3. Renal sonography for renal hypoplasia

4. Diagnosis primarily by clinical features

Genetic Counseling

1. Recurrence risk

a. Autosomal dominant

i. Patient’s sib: low unless a parent is affected

ii. Patient’s offspring: 50%

b. Autosomal recessive

i. Patient’s sib: 25%

ii. Patient’s offspring: not increased unless the

spouse is a carrier

2. Prenatal diagnosis: not been reported

3. Management: primarily supportive

References

Aase, J. M., & Wilroy, S. R. (1988). The Finlay-Marks (S.E.N.)

syndrome: Report of a new case and review of the literature.

Proceedings of the Greenwood Genetic Center, 7, 247–250.

Al-Gazali, L., Nath, R., Iram, D., et al. (2007). Hypotonia,

developmental delay and features of scalp-ear-nipple syn-

drome in an inbred Arab family. Clinical Dysmorphology,16, 105–107.

Berman, D. S., & Silverstone, L. M. (1975). Natal and neonatal

teeth. A clinical and histological study. British Dental Jour-nal, 139, 361–364.

De Macena Sobreira, N. L., Brunoni, D., Cernach, M. C. S. P.,

et al. (2006). Finlay-marks (SEN) syndrome. AmericanJournal of Medical Genetics, 140A, 300–302.

Edwards, M. J., McDonald, D., Moore, P., et al. (1994). Scalp-

ear-nipple syndrome: Additional manifestations. AmericanJournal of Medical Genetics, 50, 247–250.

Finlay, A. Y., & Marks, R. (1978). A hereditary syndrome

of lumpy scalp, odd ears and rudimentary nipples. BritishJournal of Dermatology, 99, 423–430.

Le Merrer, M., Renier, D., & Briard, M. L. (1991). Scalp defect,

nipples absence and ears abnormalities: Another case of

Finlay syndrome. Genetic Counseling, 2, 233–236.Milatovich, A., Travis, A., Grosschedl, R., et al. (1991). Gene for

lymphoid enhancer-binding factor 1 (LEF1) mapped to

human chromosome 4 (q23-q25) and mouse chromosome 3

near EGF. Genomics, 11, 1040–1048.Picard, C., Couderc, S., Skojaei, T., et al. (1999). Scalp-ear-

nipple (Finlay-Marks) syndrome: A familial case with renal

involvement. Clinical Genetics, 56, 170–172.Plessis, G., Le Treust, M., & Le Merrer, M. (1997). Scalp defect,

absence of nipples, ear anomalies, renal hypoplasia: Another

case of Finlay-Marks syndrome. Clinical Genetics, 52,231–234.

Taniai, H., Chen, H., & Ursin, S. (2004). Finlay-Marks syn-

drome: Another sporadic case and additional manifestations.

International Pediatrics, 46, 353–355.Tawil, H. M., & Najjar, S. S. (1968). Congenital absence of the

breasts. Journal of Pediatrics, 73, 751–753.van Steensel, M. A., Celli, J., van Bokhoven, J. H., et al. (1999).

Probing the gene expression database for candidate genes.

European Journal of Human Genetics, 7, 910–919.

844 Finlay–Marks Syndrome

Fig. 1 A 7-month-old boy with Finlay–Marks syndrome show-

ing absence of nipples and abnormal ears. He also had scanty

eyebrows and eyelashes, neonatal teeth, which were extracted,

nasolacrimal duct stenosis, and lumpy scalp on the occiput

region

Finlay–Marks Syndrome 845