Autosomal dominant familial frontonasal dermoid cysts: a mother and her identical twin daughters

Midline cleft lip and nasal dermoids over five generations: a distinct entity or autosomal dominant Pai syndrome?

“…Rare familial cases have been documented. Bratton et al (2001) reported nasal dermoid cysts in a mother and her identical twin daughters, and found nine familial cases in the literature, consistent with autosomal dominant inheritance. Midline cleft lip was not reported in any of these families.…”

Familial nasal dermoid sinus cysts skipping generations

“…The reason for the increase in the expres-sion of BATF2 in invasive MM is elusive; however, one possible explanation is that BATF2 is highly induced by Toll-like receptor ligands, such as damage-associated molecular patterns, 2,4 which are released from damaged tumor cells in advanced MM. 5 In conclusion, we demonstrate that an increase in the expression ratio of BATF2 in primary lesions of MM may be a novel marker of the invasion and metastasis of MM. Further studies with a larger number of samples are needed to confirm its utility.…”

Management of congenital midline nasofrontal dermoid cysts in two identical twins: Case report

“…Congenital nasofrontal dermoid cysts (NDC) are uncommon developmental anomalies that comprise up to 61% of midline congenital nasal masses 1. Several cases of familial clustering of NCD have been reported in the literature, documenting this condition across multiple generations, in both sexes, and, in a few cases, in twins 2,3. All these data support the hypothesis of a strong genetic link, which becomes more evident in those syndromic anomalies affecting the embryonic development of head and face.Wardinsky 2 showed 41% of NDC had associated multiple anomalies, especially craniofacial abnormalities (hemifacial microsomia, oral-facial-digital syndrome, frontonasal dysplasia, bitemporal narrowing, single central incisor, broad nasal bridge, coarse facies, ocular hypertelorism, coronal synostosis).…”