Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?

Abstract

Two sisters born to consanguineous Lebanese parents had mental retardation and epilepsy, brachymetacarpalia, hirsutism, bulbous soft nose, thick floppy ears with abnormal configuration and gingival hypertrophy. One girl presented additionally with tetralogy of Fallot and the other with congenital hypothyroidism and bilateral ureteral stenosis. These manifestations resemble the syndrome of hypertrichosis-gingival fibromatosis-mental retardation and seizures of Anavi et al. [1989: Dev Med Child Neurol 31:538-542] but our two girls additionally have brachymetacarpia. The inheritance seems to be autosomal recessive. These two sisters may represent a hitherto undescribed syndrome. We discuss the findings in our patients in relation to the literature.

Wiedemann–Steiner syndrome: Three further cases

“…Waardenburg syndrome type I is characterized by pigmentary disorders of the eyes, hair and skin, and congenital sensorineural deafness. Several hypertrichosis‐mental retardation syndromes do not include the characteristic telecanthus/hypertelorism, but represent additional manifestations such as gingival fibromatosis [Göhlich‐Ratman et al, 2000], hyperkeratosis [Pöyhönen et al, 2004], osteochondrodysplasia and cardiomyopathy [Cantu et al, 1982], or cataracts and microdontia [Temtamy and Sinbawy, 1991].…”

Current concepts on gingival fibromatosis‐related syndromes

“…12 The coexistence of gingival hypertrophy, hypertrichosis, mental retardation, and brachymetacarpia in two sisters is another example of syndrome overlapping (Rutherford, Cross, Ramon, Zimmermann-Laband). 15 The coexistence of HGF with periodontal lesions has been described in case reports. In two studies, an individual presented with HGF and generalized aggressive periodontitis.…”

“…There is a wide spectrum of clinical and genetic heterogeneity, and patients who are members of the same family can exhibit different phenotypes as a result of a variable penetrance of HGF. [9][10][11][12][13][14][15][16][17] As suggested, chromosomes 2, 4, and 5 seem to include the most important and known genetic loci, including 2p21-p22, 2p13-p16, 5q13-q22, 4q21, and 4q that enable mutations, duplications, deletions, and other genetic anomalies to take place. Other genetic loci, such as 8, 14q, 19p, 19q, and Xq, are also related to syndromes associated with HGF.…”

“…Recent findings have been reported that a mutation in Son of sevenless-1 (SOS-1) is the most frequent genetic mechanism related to the isolated form of HGF. 1, 8,9,15 SOS-1 is a bifunctional guanine nucleotide factor that regulates the activity of Ras, Rac, and Rho proteins. The function of this protein net is responsible for cell differentiation and proliferation, and is also thought to play a key role in cancer pathogenesis and cell accumulation seen in HGF.…”

Genetic Disorders Associated with Gingival Enlargement

“…It is characterized by epilepsy, finger abnormalities, hirsutism, bulbous short nose and abnormal ears (Gohlich-Ratmann et al, 2000). gene.…”