Finlay–Marks syndrome: Report of two siblings and review of literature

Abstract

Finlay-Marks syndrome (scalp-ear-nipple syndrome), is the infrequently reported association of scalp aplasia, malformed ears, and breast abnormalities varying from small nipples to complete absence of breasts. Other manifestations are variable and some of them resemble ectodermal dysplasia and include dystrophy of nails and teeth, sparse hair, decreased sweating, and cutaneous syndactyly of digits. Renal anomalies have been reported in some patients leading to hypertension and renal insufficiency. Most reported patients have been sporadic but familial occurrences following an autosomal dominant pattern of inheritance have been reported. We report on two affected siblings, of whom one died in the neonatal period due to renal failure. Two affected siblings born to non-affected parents may suggest an autosomal recessive inheritance.

AP-2β/KCTD1 Control Distal Nephron Differentiation and Protect against Renal Fibrosis

“…These findings suggest that AP-2b and KCTD1 are candidate genes to control the differentiation and function of specific distal nephron segments. Indeed, AP-2b null mice show abnormal distal nephron dilatation at birth, and patients with Finlay-Marks syndrome (also called Scalp-Ear-Nipple syndrome) with mutations in KCTD1 often have small kidneys and develop progressive kidney abnormalities (Marneros et al, 2013;Moser et al, 1997Moser et al, , 2003Naik et al, 2012;Park et al, 2018;Plessis et al, 1997;Steinberg et al, 1990;Wang et al, 2018). However, a detailed characterization of the kidneys of AP-2b null mice has not been performed previously, and the role of AP-2b during nephrogenesis remains unknown.…”

The phenotypic characteristics of patients with athelia and tooth agenesis

“…Such abnormalities can be divided into 3 categories: total absence of the breasts and nipple (amastia), absence of the nipple (athelia), and absence of the mammary gland (amazia). They are predominantly isolated deformities, although approximately 15% are associated with other anomalies (22), in which the ADULT syndrome and Finlay-Marks syndrome (23) are known for nipple and tooth abnormality.…”

Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1 I27N mutant mice

“…Renal defects might contribute to morbidity and mortality via renal insufficiency and renovascular hypertension. Thus, all patients with SEN syndrome should undergo detailed renal evaluation [ 18 ].…”

“…Less frequent clinical observations include renal and urinary tract malformations also leading to hypertension. In addition, there are reports of partial manifestations in isolated or familial cases including putative recessive inheritance [ 18 , 19 ] (and refs therein).…”