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.
GENETICS/BASIC DEFECTS
1. Inheritance: autosomal dominant
2. Lymphoid enhancer factor-1 (Lef-1), identified as a can- didate gene for scalp-ear-nipple syndrome
a. Lef-1: an HMG-domain DNA-binding protein expressed in the neural crest, mesencephalon, tooth germs and other sites during embryogenesis
b. Homozygous deficiency of this gene causing postna- tal 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-1 may be a candidate gene for scalp-ear-nipple syndrome
CLINICAL FEATURES
1. Scalp abnormalities
a. Raised firm nodules over the scalp in the occipital 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. Pyeloureteral duplication
e. Cataract f. Hypertension g. Diabetes mellitus h. Partial syndactyly
DIAGNOSTIC INVESTIGATIONS
1. No specific laboratory tests available
2. Histology of scalp defect resembling aplasia cutis congenita
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. Patient’s sib: low unless a parent is affected b. Patient’s offspring: 50%
2. Prenatal diagnosis: not been reported 3. Management: primarily supportive
REFERENCES
Aase JM, Wilroy SR: The Finlay-Marks (S.E.N.) syndrome: report of a new case and review of the literature. Proc Greenwood Genet Center 7:247–250, 1988.
Berman DS, Silverstone LM: Natal and neonatal teeth. A clinical and histolog- ical study. Br Dent J 139:361–364, 1975.
Edwards MJ, McDonald D, Moore P, et al.: Scalp-ear-nipple syndrome: addi- tional manifestations. Am J Med Genet 50:247–250, 1994.
Finlay AY, Marks R: A hereditary syndrome of lumpy scalp, odd ears and rudi- mentary nipples. Br J Dermatol 99:423–430, 1978.
Le Merrer M, Renier D, Briard ML: Scalp defect, nipples absence and ears abnormalities: another case of Finlay syndrome. Genetic Counseling 2:233–236, 1991.
Milatovich A, Travis A, Grosschedl R, et al.: 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, 1991.
Picard C, Couderc S, Skojaei T, et al.: Scalp-ear-nipple (Finlay-Marks) syn- drome: a familial case with renal involvement. Clin Genet 56:170–172, 1999.
Plessis G, Le Treust M, Le Merrer M: Scalp defect, absence of nipples, ear anomalies, renal hypoplasia: another case of Finlay-Marks syndrome.
Clin Genet 52:231–234, 1997.
Taniai H, Chen H, Ursin S: Finlay-Marks syndrome: another sporadic case and additional manifestations. Int Pediatr 46:353–355, 2004.
Tawil HM, Najjar SS: Congenital absence of the breasts. J Pediatr 73:751–753, 1968.
van Steensel MA, Celli J, van Bokhoven JH, et al.: Probing the gene expression database for candidate genes. Eur J Hum Genet 7:910–919, 1999.
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Finlay-Marks Syndrome
416 FINLAY-MARKS SYNDROME
Fig. 1. A 7-month-old boy with Finlay-Marks syndrome showing 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.
