Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.

Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder caused by mutations in CRLF1 (cytokine receptor-like factor 1), characterized by profuse sweating in cold environmental temperature and craniofacial and skeletal features. Mutations in CRLF1 also cause Crisponi syndrome (CS), characterized by neonatal-onset paroxysmal muscular contractions as well as craniofacial and skeletal manifestations and abnormal functions of the autonomic nerve system. To date, it is an unresolved problem whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions or with different presentations depending on the patients' age at diagnosis. We report on a 30-year-old Japanese woman with CISS and homozygous out-of-frame 23-base deletion of CRLF1. In infancy, she did not show paroxysmal muscular contractions, but showed feeding difficulty, hyperthermia, and facial characteristics including thick and arched eyebrows, a short nose with anteverted nostrils, full cheeks, an inverted upper lip, and a small mouth, resembling those observed in CS. Profuse sweating was noticed at 3 years of age. Cold-induced sweating was recognized in her elementary school days. In adolescence to adulthood, she showed a Marfanoid habitus with progressive kyphoscoliosis and craniofacial characteristics including dolichocephaly, a slender face with poor expression, a distinctive nose with hypoplastic nares, malar hypoplasia, prognathism, and a small mouth. This is the first report of detailed longitudinal observation of a patient with CRLF1 abnormalities, compatible with the notion that CISS and CS may be a single clinical entity.

A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.

We previously described two unrelated patients showing characteristic facial and skeletal features, overlapping with the kyphoscoliosis type Ehlers-Danlos syndrome (EDS) but without lysyl hydroxylase deficiency [Kosho et al. (2005) Am J Med Genet Part A 138A:282-287]. After observations of them over time and encounter with four additional unrelated patients, we have concluded that they represent a new clinically recognizable type of EDS with distinct craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. The patients exhibited strikingly similar features according to their age: craniofacial, large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with hypoplastic columella, low-set and rotated ears, high palate, long philtrum, thin vermilion of the upper lip, small mouth, and micro-retrognathia in infancy; slender and asymmetric face with protruding jaw from adolescence; skeletal, congenital contractures of fingers, wrists, and hips, and talipes equinovarus with anomalous insertions of flexor muscles; progressive joint laxity with recurrent dislocations; slender and/or cylindrical fingers and progressive talipes valgus and cavum or planus, with diaphyseal narrowing of phalanges, metacarpals, and metatarsals; pectus deformities; scoliosis or kyphoscoliosis with decreased physiological curvatures of thoracic spines and tall vertebrae; cutaneous, progressive hyperextensibility, bruisability, and fragility with atrophic scars; fine palmar creases in childhood to acrogeria-like prominent wrinkles in adulthood, recurrent subcutaneous infections with fistula formation; cardiovascular, cardiac valve abnormalities, recurrent large subcutaneous hematomas from childhood; gastrointestinal, constipation, diverticula perforation; respiratory, (hemo)pneumothorax; and ophthalmological, strabismus, glaucoma, refractive errors.

Ex Vivo Evaluation of Gingival Ablation with Various Laser Systems and Electroscalpel.

Objective: The aim of this study was to perform a systematic and multifaceted comparison of thermal effects during soft tissue ablation with various lasers and an electroscalpel (ES). Materials and methods: Er:YAG, Er,Cr:YSGG, CO2, Diode, Nd:YAG lasers (1 W, pulsed or continuous wave), an ES, and a scalpel (Sc; control), were employed for porcine gingival tissue ablation. Temperature changes during ablation were measured by using an infrared thermal imaging camera and a thermocouple. After ablations, the wounds were observed using stereomicroscopy and scanning electron microscopy (SEM), and histological sections were analyzed. Compositional analysis was also performed on ablated sites by SEM wavelength dispersive X-ray spectroscopy. Results: The surface temperature during irradiation was highest with CO2 (over 500°C), followed by Diode (267°C) and Nd:YAG (258°C), Er:YAG (164°C), ES (135°C), and Er,Cr:YSGG (85°C). Carbonization was negligible (Er:YAG), slight (Er,Cr:YSGG), moderate (Nd:YAG and ES), and severe (CO2 and Diode). Under SEM observation, Er:YAG and Er,Cr:YSGG showed smooth surfaces but other devices resulted in rough appearances. Histologically, the coagulated and thermally affected layer was extremely minimal (38 µm in thickness) and free from epithelial collapse for Er:YAG. Compared with other devices, less compositional surface change was detected with Er:YAG and Er,Cr:YSGG; additionally, the use of water spray further minimized thermal influence. Conclusions: Among various power devices, Er:YAG laser showed the most efficient and refined gingival ablation with minimal thermal influence on the surrounding tissues. Er:YAG and Er,Cr:YSGG lasers with water spray could be considered as minimally invasive power devices for soft tissue surgery.

Energy output reduction and surface alteration of quartz tips following Er:YAG laser contact irradiation on soft and hard tissues in vitro.

Though the Er:YAG laser (ErL) has been used in periodontal therapy, the irradiated tip damage has not been studied in detail. In this study, the change in the energy output, surface morphology, and temperature of quartz tips was evaluated following contact irradiation. Soft tissue, calculus on extracted human teeth, and porcine bone were irradiated by ErL for 60 min at 14.2 or 28.3 J/cm(2)/pulse and 20 Hz with or without water spray. The energy output ratio declined the most in the calculus group, followed by the bone and soft tissue groups with and/or without water spray. Carbon contamination was detected in all groups, and contamination by P, Ca, and/or other inorganic elements was observed in the calculus and bone groups. The rate of energy output reduction and the degree of surface alteration/contamination is variously influenced by the targeting tissue, temperature elevation of the tip and water spray.