L. Giannetti

Schöpf-Schulz-Passarge Syndrome: Further Delineation of the Phenotype and Genetic Considerations

Schöpf-Schulz-Passarge syndrome is a rare ectodermal dysplasia, characterized chiefly by multiple eyelid apocrine hidrocystomas, palmo-plantar keratoderma, hypodontia, hypotrichosis and nail dystrophy. The clinical spectrum and the most likely inheritance pattern(s) have not yet been completely defined. We report here on two, unrelated patients presenting with additional, previously unreported features, including hypoplastic nipples and optic atrophy. Both individuals were born to consanguineous parents, and one also has affected siblings. A literature review identified 23 additional cases. Multiple eyelid apocrine hidrocystomas, described in all of the cases, are the hallmark of this condition, although they usually appear in adulthood. The concomitant presence of eccrine syringofibroadenoma in most patients and of other adnexal skin tumours in 44% of affected subjects indicates that Schöpf-Schulz-Passarge is a genodermatosis with skin appendage neoplasms. However, the risk of skin and visceral malignancies is not increased. Pedigree study demonstrates that 9 of the 13 published familial cases may be explained by an autosomal recessive mutation, while the remaining pedigrees show apparent vertical transmission compatible with genetic heterogeneity. The benign disease course and advanced age at diagnosis could also suggest locus homogeneity for a recessive mutation with instances of pseudodominant inheritance.

Novel CTSC mutations in a patient with Papillon–Lefèvre syndrome with recurrent pyoderma and minimal oral and palmoplantar involvement

SIR, Papillon–Lefèvre syndrome (PLS) is an autosomal recessive genodermatosis mainly characterized by early-onset periodontitis and palmoplantar keratoderma. Recurrent pyogenic skin infections, usually of mild degree and self-healing, are relatively common additional features. PLS is caused by lossof-function mutations in the CTSC gene, which encodes for cathepsin C, a lysosomal cysteine protease required for the activation of granule-associated serine proteases in immune ⁄ inflammatory cells. Cathepsin C consists of four identical subunits, each composed of three distinct polypeptide chains, the heavy chain, light chain and the N-terminal fragment, held together by noncovalent interactions. The heavy and light chains form a two-domain papain-like structure, which contains the catalytic site, whereas the N-terminal fragment shapes the ‘exclusion’ domain, which is crucial for substrate binding and selectivity. More than 60 distinct CTSC mutations have been identified, most of which are missense mutations that alter protein folding and function. We report a 24-year-old Italian woman, who underwent dermatological evaluation for recurrent pyoderma. She was the only affected child of healthy nonconsanguineous parents. Primary dentition was normal. In infancy, the gingiva surrounding the erupted teeth started to become inflamed with consequent premature tooth loosening. All remaining deciduous teeth were extracted before spontaneous exfoliation. The

Traumatic dental injuries resulting from sports activities; immediate treatment and five years follow-up: an observational study

Background: Traumatic dental injuries (TDIs) represent 18-30% of all oral pathologies and a considerable number of these are sports related. It is very important to treat sports-related injuries and prevent complications. However, very few studies investigate the most expedient therapeutic strategies for the treatment of dental trauma correlated to sports. Objective: The aim of this work was to focus on the average recovery time for different lesions, to assess adequate times for each athlete, to identify any association with complications and to investigate whether or not the use of mouth-guards interfered with a full recovery to normal health. Methods: This study involved a group of 30 athletes (15 male and 15 female) who had dental injuries of varying severity. For the purposes of data collection, two classifications were taken into account: a classification for hard tissue trauma and another for periodontal lesions. The athletes were subdivided in “type of lesion’ groups”.They were then treated depending on their individual lesions and followed up for 5 years. A statistical analysis was carried out to study the association between recovery time, lesion types and occurrence of complications. Results: The time for recovery was different for each type of lesion and ranged from 3-5 days (only uncomplicated fractures) to 14 days (all hard-periodontal tissue traumas). The total number of recorded pulp complications amounted to 6 cases. Among 30 athletes, 20 had begun and maintained, during the five-year follow-up period, the habit of using mouth-guards when practicing their sport activities. Conclusions: Recovery time and the severity of lesions are statistically associated: the more serious the injury, the more time an athlete needs to recover and return to competitive sports events. Furthermore, recovery time and precautionary measures (mouth-guards) did not influence the onset of complications. The subjects’ habit of wearing a mouth guard continued even after the end of the therapy and follow-up periods.