Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
Contains fulltext : 153827.pdf (Publisher’s version ) (Open Access) Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as another recurrent de novo mutation affecting the same amino acid in ten independent BSS-affected families. Moreover, a genotype-phenotype correlation was observed, because the two syndromes differed based s…
Primary intra-osseous Hybrid Schwannoma-Perineurioma in the mandible
Benign nerve sheath tumours include perineuriomas, schwannomas and neurofibromas. Hybrid schwannoma-perineurioma represents a cutaneous, subcutaneous or occasionally intra-osseous tumour with schwannian cytomorphology and perineurioma-like architecture consisting of a mixture of both types of cells. These tumours can develop at any age and there is no gender-predilection. Tongue is the most frequently affected site, followed by palate, mouth floor, jugal mucosa, lips and, more rarely, mandible. We present a case of hybrid tumour with schwannoma-perineurioma morphology located on the right mandibular body (intra-osseous) of a 54-year-old female patient. The tumour was symptomatic and evolvin…
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View
Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the <i>TWIST2</i> gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with. We tabulated frequently asked questions from affected individuals and families, and a parent of an affected child and an affected adul…
Pigmented Squamous Cell Carcinoma In Situ: Report of a New Case and Review of the Literature
Pigmented squamous cell carcinoma in situ (PSCCIS) is very rare, being clinically described as a pigmented lesion with histological characteristics of an in-situ carcinoma presenting pigmentation within neoplastic cells. A 50-year-old Afro-descendant man came for clinical evaluation of a painful black and red lesion located on the right aspect of the oropharyngeal isthmus. After incisional biopsy, the resulting sample was described as a pigmented squamous cell carcinoma in situ, a diagnosis further confirmed by immunohistochemical analysis. Treatment consisted in total excision of the lesion, and no recurrence was observed after a 30-month follow-up. Clinicians and pathologists should be aw…