Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2

A 14-year-old male presented with a T4 sigmoid adenocarcinoma, <10 colonic adenomas and multiple café-au-lait macules. Family history was not suggestive of a dominant hereditary form of colorectal cancer. Evaluation of the tumor revealed abnormal immunohistochemical staining of the PMS2 protein and high frequency microsatellite instability. Germline analysis identified biallelic PMS2 missense mutations. A new cancer syndrome caused by biallelic mutations in the mismatch repair genes, including PMS2, is now emerging and is characterized by café-au-lait macules, colonic polyps and a distinctive tumor spectrum.     

H3.1 K36M mutation in a congenital‐onset soft tissue neoplasm

We describe a patient who presented with a congenital soft tissue lesion initially diagnosed as infantile fibromatosis at 15 days of age. Unusually, the mass demonstrated malignant progression leading to death at 20 months of age. Biological progression to malignancy is not known to occur in fibromatosis, and fibrosarcoma is not known to progress from a benign lesion. Whole‐exome sequencing of the tumor identified a driver mutation in histone H3.1 at lysine (K)36. Our findings support the link between oncohistones and infantile soft tissue tumors and provide additional evidence for the oncogenic effects of p.K36M in H3 variants.     

Sex assessment using odontometry and cranial anthropometry: evaluation in an Indian sample

Crania and teeth are considered to be useful adjuncts for sex assessment and in construction of a postmortem profile, however, there is very little information regarding the relationship between tooth and cranial size. The purpose of this study was to demonstrate the extent of sexual dimorphism of teeth and cranial size in an adult Indian population and their potential in sex estimation using logistic regression analysis. The sample consisted of 200 subjects (96 males and 104 females; age range of 18–30 years) of Indian origin. Cranial anthropometric measurements i.e. maximum head length and head breadth were measured and cephalic index was calculated. Tooth size (maximum mesiodistal and buccolingual dimensions) was measured for all the permanent teeth of the right side of the maxillary and mandibular arches, except the third molars. To ascertain the usefulness of absolute measurements of crania and teeth and the combination of both these parameters in sex prediction, logistic regression analysis was done. The cranial anthropometric measurements gave a sex assessment accuracy ranging from 53.5 to 79.9%, with head length giving the best accuracy. The sex classification accuracy of the odontometric measurements ranged from 61.5 to 76%, with combination of maxillary and mandibular teeth giving better accuracy. The use of both these parameters together vastly improved the accuracy to 88.4%. This study demonstrates that cranial anthropometry along with odontometry could be used fordetermining the gender of adult Indians in a forensic context. Among all the parameters, head length gave a superior sex prediction alone (79.9%) as well as in combination with odontometry (88.4%).     

Dentofacial and Cranial Changes in Down Syndrome

Objectives

This study aimed to determine the prevalence of certain oral characteristics usually associated with Down syndrome and to determine the oral health status of these patients.

Methods

The cross-sectional study was conducted among patients attending a special education program at Faculty of Dentistry, Jamia Millia Islamia, Delhi, India. The study design consisted of closed-ended questions on demographic characteristics (age, sex, and education and income of parents), dietary habits, and oral hygiene habits. Clinical examination included assessment of oral hygiene according to Simplified Oral Hygiene Index (OHI-S), dental caries according to decayed, missing, and filled teeth (DMFT) index, periodontal status according to the Community Periodontal Index of Treatment Needs (CPITN), and malocclusion according to Angles classification of malocclusion. Examinations were carried out using a using a CPI probe and a mouth mirror in accordance with World Health Organization criteria and methods. Craniometric measurements, including maximum head length and head breadth were measured for each participant using Martin spreading calipers centered on standard anthropological methods.

Results

The majority of the patients were males (n = 63; 82%) with age ranging from 6–40 years. The Intelligence Quotient (IQ) score of the patients indicated that 31% had moderate mental disability and 52% had mild mental disability. 22% exhibited hearing and speech problems.12% had missing teeth and 15% had retained deciduous teeth in adult population. The overall prevalence of dental caries in the study population was 78%. DMFT, CPITN and OHI scores of the study group were 3.8 ± 2.52, 2.10 ± 1.14 and 1.92 ± 0.63 respectively. The vast majority of patients required treatment (90%), primarily of scaling, root planing, and oral hygiene education. 16% of patients reported CPITN scores of 4 (deep pockets) requiring complex periodontal care. The prevalence of malocclusion was 97% predominantly of Class III malocclusions. Further 14% presented with fractured anterior teeth primarily central incisor. The percentage means of cephalic index was 84.6% in the study population. The brachycephalic and hyperbrachycephalic type of head shape was dominant in the Down syndrome individuals (90%).

Conclusion

The most common dentofacial anomaly seen in these individuals was fissured tongue followed by macroglossia.