Long-term Outcomes of Non-syndromic and Syndromic Craniosynostosis: Analysis of Demographic,Morphologic, and Surgical Factors

In this study, we analyzed the outcomes of patients (followed for 5–38 years, average 17.3 years) with craniosynostosis and evaluated their long-term prognosis. In all, 51 patients who underwent surgery for craniosynostosis between 1982 and 2015, including 12 syndromic and 39 non-syndromic cases, were included. The average age at the initial surgery was significantly lower in the syndromic group than that in the non-syndromic group (9.8 months old vs. 19.9 months, respectively). The surgical procedures did not significantly differ between the two groups, but repeat surgery was significantly more common in the syndromic group than in the non-syndromic group (4 children [30.8%] and 3 children [7.7%], respectively). The children requiring repeat surgery tended to be younger at the initial surgery than those who did not. Those patients who required repeat surgery did not have significantly different surgical procedures initially. The incidence of developmental retardation was 49.0% (43.5% in the non-syndromic group and 66.7% in the syndromic group), and only two children in the non-syndromic group displayed recovery. This study is the first to analyze the prognosis for patients who were followed for at least 5 years after cranioplasty. Repeat surgery was common, especially in syndromic patients. Severity of skull deformity and early initial surgery may be important factors determining the need for repeat surgery. Developmental retardation was also common, and improvement was rare even after surgery.     

Short-term efficacy and safety of collagenase injection for Dupuytren's contracture: Therapy protocol for successful outcomes in a clinical setting

PurposeTo assess the short-term efficacy and safety of collagenase injection for Dupuytren's contracture and of our post-injection therapy protocol alternative the instruction of phase III studies at clinical setting.MethodsThe retrospective study included 23 fingers of 21 hands of 18 patients for primary metacarpophalangeal (MP) joints and 11 fingers of 10 hands of 10 patients for primary proximal interphalangeal (PIP) joints with Dupuytren's contracture who were treated with 0.58 mg collagenase Clostridium histolyticum (CCH) injections at our hospital consecutively from September 2015 to October 2017. The mean age of the patients was 73.0 years (range, 57–88) for primary MP joints and 70.7 years (61–81) for primary PIP joints. Following standard CCH injection and manipulation on the next day, certified hand surgeons evaluated and treated each patient based on a defined 4-week therapy protocol that consisted of performing finger exercises during the day and wearing static extension splint at night for all cases, and of wearing Capener dynamic splint intervention to address severely contracted PIP joints. We measured the degree of contracture at baseline, immediately, 4 weeks, and 12 weeks after the last manipulation.ResultsMore improvement of contracture was seen in the MP joints than in the PIP joints. For the five fingers severely contracted and treated with Capener splint intervention, the mean passive PIP joint contracture was 62.0° at baseline, 21.0° immediately, further improved to 6.0° by 4 weeks, and maintained 8.0° by 12 weeks after the last manipulation. The adverse events were mild-to-moderate local reactions in the injected hand.ConclusionsThe clinical efficacy and safety of CCH were confirmed in a clinical setting similar to phase III studies. The improvement of 4-week-intervention was maintained at 12 weeks after the last manipulation. Severely contracted PIP joints could benefit from Capener splint intervention.     

A case of lymphangitic sporotrichosis occurring on both forearms with a published work review of cases of bilateral sporotrichosis in Japan

The patient, 56-year-old man who was working as a clerk and a farmer, presented with nodules that had appeared on the dorsa of both his hands 3 months earlier. At the first examination, there were multiple dark-red nodules scattered on the fingers, dorsa and wrists of both hands. The nodules were up to 3 cm in diameter and had crusts in the incenters. The patient was suspected to suffer from prurigo and was subsequently treated with topical steroid, but the nodules did not respond. Therefore, a skin biopsy and fungal culture were performed, and the patient was finally diagnosed as having bilateral multiple sporotrichosis. He was then successfully treated with local thermotherapy and oral potassium iodide. Bilaterally-distributed lymphangitic sporotrichosis is very rare and often difficult to diagnose. Careful attention is required to avoid misdiagnosis.     

R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis

A 37-year-old Japanese male presented to us with persistent asteatotic skin with mild erythema on the trunk and extremities. Skin biopsy from the left knee showed marked epidermal acanthosis and hyperkeratosis, and milder granular degeneration. Ultrastructural analysis revealed clumping of the keratin filaments within suprabasal keratinocytes of the epidermis. Following direct sequencing, we found a single nucleotide substitution in one allele at the residue position 466 of the 1A rod domain segment (CGC to TGC, arginine to cysteine; R156C) in keratin 10. Clinical manifestations and molecular analysis indicated that R156C mutation in keratin 10 gene (KRT10) causes a mild form of epidermolytic hyperkeratosis (EHK) in the presented case.