We report on a father and his two children who are affected with dyschromatosis symmetrica hereditaria (DSH). Mutation analysis of ADAR1 gene demonstrated a novel splice acceptor site mutation in intron 10, IVS10-2A>C. The hair on the forearm of the affected father became longer, larger in diameter, and hypopigmented (white) after age 40 years. Hyperpigmented hair was also found in normal and hypopigmented skin. The colors of the hair and the skin did not correlate. Transmission electron micrography of cortical keratinocytes of the hair follicles showed that normal hair contained more keratinocytes than those of hyperpigmented and hypopigmented hair. The keratinocytes of the hyperpigmented hair were larger than those of normal and hypopigmented hair and those of the normal hair were larger than those of the hypopigmented hair. The affected daughter had dens evaginatus of the mandibular right second premolar and the son had dens invaginatus of the maxillary permanent lateral incisors. Expression of Adar1 gene during mouse tooth development is demonstrated.

Isolated dentinogenesis imperfecta or hereditary opalescent dentin or dentinogenesis imperfecta, type II (DGI1: MIM #125490) is an autosomal dominant genetic disorder, characterized by severe hypomineralization of dentin with abnormal dentin structure affecting both primary and permanent dentitions. Clinically all teeth appear blue gray or amber brown, and opalescent. Primary teeth are more severely affected than the permanent ones (de La Dure-Molla, Philippe Fournier, & Berdal, 2015;Kim & Simmer, 2007).We report clinical and molecular findings of a Thai family affected with DGI1. The proband (II-5) and six affected family members had glass-like appearance of the enamel of the primary incisors (Figure 1a, b). All affected members had a heterozygous missense mutation in COL1A2. The enamel with glass-like appearance found in our patients shows that not only dentin and cementum but also enamel is abnormal in teeth affected with DGI, and suggests a potential structural role of collagen type I in enamel biomineralization. All family members had DGI1 in both primary and permanent dentitions. Interestingly, some of them had DGI1 teeth and normal permanent teeth in the same persons.Oral examination of the proband (patient II-5) was performed 25 years ago when he was one and a half years old. Four primary incisors were erupted and the enamel was remarkably translucent and had glass-like appearance (Figure 1a). Dental X-rays were not taken.He has been healthy with no history of bone fracture. It was reported that the enamel of the primary incisors of the proband (II-5) was more translucent than that of other affected family members (Figure 1a). At FIGURE 1 (a) Primary incisors of the proband (II-5). Glass appearing enamel. Teeth are remarkably translucent. (b) Pedigree showing autosomal dominant mode of inheritance with complete penetrance [Color figure can be viewed at wileyonlinelibrary.com]

The purpose of this paper was to report the five-year success of Biodentine™ partial pulpotomy in a young permanent molar, with signs and symptoms indicative of irreversible pulpitis and periapical lesion, in a nine-year-old girl. Preoperative clinical examination revealed a large carious lesion of the left mandibular permanent first molar. The patient reported pain on percussion. The tooth responded positively to the electric pulp test and had lingering pain after cold testing. A periapical radiograph showed a deep carious lesion and periapical lesion. Based on the clinical and radiographical examination, the tooth had signs and symptoms indicative of irreversible pulpitis and periapical lesion. During caries removal, pulp exposure occurred, and 2-3 mm in depth of pulp tissue at the exposure site was removed. Haemorrhage was controlled within four minutes with 2.5% sodium hypochlorite-moistened cotton pellets. Biodentine™ was then applied as both a pulp dressing and a temporary restoration. At the following visit, composite resin was placed over the Biodentine™ as a final restoration. During a five-year follow-up, the tooth was asymptomatic, had positive responses to sensibility tests, and had no discolouration. Follow-up radiographs showed a dentine bridge and periapical healing.

Mucopolysaccharidosis Type VII (MPS7, also called β-glucuronidase deficiency or Sly syndrome; MIM 253220) is an extremely rare autosomal recessive lysosomal storage disease, caused by mutations in the GUSB gene. β-glucuronidase (GUSB) is a lysosomal hydrolase involved in the stepwise degradation of glucuronic acid-containing glycosaminoglycans (GAGs). Patients affected with MPS VII are not able to completely degrade glucuronic acid-containing GAGs, including chondroitin 4-sulfate, chondroitin 6-sulfate, dermatan sulfate, and heparan sulfate. The accumulation of these GAGs in lysosomes of various tissues leads to cellular and organ dysfunctions. Characteristic features of MPS VII include short stature, macrocephaly, hirsutism, coarse facies, hearing loss, cloudy cornea, short neck, valvular cardiac defects, hepatosplenomegaly, and dysostosis multiplex. Oral manifestations in patients affected with MPS VII have never been reported. Oral manifestations observed in three patients consist of wide root canal spaces, taurodontism, hyperplastic dental folli-cles, malposition of unerupted permanent molars, and failure of tooth eruption with malformed roots. The unusual skeletal features of the patients include maxillary hypoplasia, hypoplastic midface, long mandibular length, mandibular prognathism, hypoplastic and aplastic mandibular condyles, absence of the dens of the second cervical vertebra, and erosion of the cortex of the lower border of mandibles. Dogs affected with MPS VII had anterior and posterior open bite, maxillary hypoplasia, premolar crowding, and mandibular prognathism. Unlike patients with MPS VII, the dogs had