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PubMed2006

Correlation and agreement between bispectral index and state entropy of the electroencephalogram during propofol anaesthesia.

BACKGROUND: Bispectral index (BIS) and state entropy (SE) monitor hypnosis. We evaluated the correlation and the agreement between those parameters during propofol anaesthesia and laryngoscopy with and without muscle relaxation. METHODS: A total of 25 patients were anaesthetized with propofol. At steady state (SS: BIS 40-50), they randomly received rocuronium (R) or saline (S); 3 min thereafter, a 20 s laryngoscopy was performed. Correlation (regression analysis) and agreement (Bland-Altman analysis) were evaluated before induction (baseline), at loss of eyelash reflex (LER), at SS and during the first 3 min after laryngoscopy (L). RESULTS: The correlation coefficient r (95% CI), the mean difference (MD) (95% CI), and the limits of agreement [lower-upper limits of 95% CI of MD (sd 1.96)] between BIS and SE were as follows. Overall recordings: 0.87 (0.83 to 0.90), 2.5 (1.2 to 3.0), and [-19.5 to 24.6]; Baseline: 0.45 (0.06 to 0.72), 7.6 (6.0 to 9.2), and [-2.7 to 17.9]; LER: 0.74 (0.47 to 0.88), 8.3 (3.5 to 13.2), and [-22.6 to 39.3]; SS, all patients: 0.41 (0.14 to 0.63), 2.0 (-0.5 to 4.6), and [-19.0 to 23.3]; SS, Group S: 0.36 (-0.07 to 0.68), 1.9 (-2.5 to 6.3), and [-25.0 to 28.8]; SS, Group R: 0.63 (0.32 to 0.82), 0.2 (-2.0 to 2.3), and [-14.0 to 14.4]; L, all patients: 0.49 (0.32 to 0.63), 0.7 (-1.6 to 3.0), and [-25.6 to 27.1]; L, Group S: 0.41 (0.13 to 0.63), 2.3 (-2.4 to 7.1), and [-36.7 to 41.3]; L, Group R: 0.72 (0.56 to 0.83), -0.6 (-2.2 to 1.0), and [-14.3 to 13.1]. The correlation was good except for SS in Group S. The MD was significantly different from 0 for overall recordings, during baseline and LER, but not for the other conditions. The agreement was poor except for baseline, and SS and L in Group R. CONCLUSIONS: BIS and SE are globally well correlated. In contrast, agreement is poor as differences of more than 20 units are frequently observed, except for awake and paralysed patients.

Adult↗
PubMed2004

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.

Restrictive dermopathy (RD), also called tight skin contracture syndrome (OMIM 275210), is a rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. The overall prevalence of consanguineous cases suggested an autosomal recessive inheritance. We explored nine fetuses/newborns children with RD. Two were found to have an heterozygous splicing mutation in the LMNA gene, leading to the complete or partial loss of exon 11 in mRNAs encoding Lamin A and resulting in a truncated Prelamin A protein. Lamins are major constituents of the nuclear lamina, a filamentous meshwork underlying the inner nuclear envelope. In the other seven patients, a unique heterozygous insertion leading to the creation of a premature termination codon was identified in the gene ZMPSTE24, also known as FACE-1 in human. This gene encodes a metalloproteinase specifically involved in the post-translational processing of Lamin A precursor. In all patients carrying a ZMPSTE24 mutation, loss of expression of Lamin A as well as abnormal patterns of nuclear sizes and shapes and mislocalization of Lamin-associated proteins was evidenced. Our results indicate that a common pathogenetic pathway, involving defects of the nuclear lamina and matrix, is involved in all RD cases. RD is thus one of the most deleterious laminopathies identified so far in humans caused by (primary or secondary) A-type Lamin defects and nuclear structural and functional alterations.

Bone and Bones↗
PubMed1996

Motor and sensory disability has a strong relationship to induction dose of thiopental in patients with the hypertropic variety of Charcot-Marie-Tooth syndrome.

In a prospective study, we determined the anesthetic induction dose of thiopental and the clinical variables influencing the appropriate induction dose of thiopental in 20 patients with the hypertrophic variety of Charcot-Marie-Tooth syndrome (CMT). As controls we chose 50 patients without CMT. Motor disturbance was evaluated in terms of muscle weakness of the distal lower and upper extremities. We examined sensory disturbance by evaluating loss of sensation in the index finger and great toe. The preinduction cardiac output was measured by echocardiography. Anesthesia was induced with repeated injections of 50 mg thiopental. The minimum induction dose of thiopental (MID) was confirmed when the eyelash reflex ceased. We maintained anesthesia with enflurane and nitrous oxide. The 95% confidence interval of the MID in patients used as the controls was 2.5-4.9 mg/kg. The MID in 11 patients with CMT was less than 2.5 mg/kg. MIDs in the patients with CMT were significantly smaller than those of the control patients (P < 0.0001). Also we found a strong relationship between the MID and the severity of both motor and sensory disturbances (P = 0.003 and 0.002, respectively). There was no relationship between the MID and other clinical variables, such as age, gender, inherited type, body weight, and preinduction cardiac output. Because delay in the recovery from anesthesia can be caused by an inappropriate dose of thiopental in CMT patients in whom motor and sensory function is seriously impaired, the dose of thiopental probably should be reduced and based on the individual patient's response.

Adolescent↗
PubMed1996

Sevoflurane versus isoflurane: induction and recovery characteristics with single-breath inhaled inductions of anesthesia.

Because of its nonpungent odor and low blood-gas solubility coefficient, sevoflurane might be an ideal drug for single-breath inhaled induction of anesthesia. Fifty ASA grade I-III ambulatory surgical patients (18-76 yr old) received a single-breath induction with either 5.0% sevoflurane or 5.0% isoflurane (randomized) in a 1:1 N2O/O2 mixture. Anesthesia was maintained with the same anesthetic in 70% N2O until the end of surgery, when anesthetics were abruptly discontinued. Induction times (loss of eyelash reflex) were similar for sevoflurane (75 +/- 3 s, mean +/- se) and isoflurane (67 +/- 4 s, P = not significant). Sevoflurane patients were less likely to have complications during induction (P < 0.005); coughing occurred more frequently with isoflurane (P < 0.001). During induction, heart rate increased with both sevoflurane (from 73 +/- 3 to 90 +/- 4 bpm, P < 0.05) and isoflurane (from 70 +/- 2 to 92 +/- 2 bpm, P < 0.05); the increase with isoflurane was greater than that with sevoflurane. Times to eye opening for sevoflurane (8.1 1 +/- 1.0 min) did not differ significantly from those for isoflurane (10.6 +/- 1.3 min). Patients opened their eyes at lower end-tidal minimum alveolar anesthetic concentration (MAC)-fractions of sevoflurane (0.12 +/- 0.01 MAC) than isoflurane (0.15 +/- 0.01 MAC, P < 0.01). During recovery, patients who received sevoflurane felt less clumsy (P < 0.001) and less confused (P < 0.005) but had higher pain scores (P < 0.005) than those who received isoflurane. Sevoflurane is more suitable than isoflurane for single-breath induction, because it produces a smoother induction with a lower incidence of complications and better patient acceptance.

Adolescent↗
PubMed2001

Endotracheal intubation with thiopental/succinylcholine or sevoflurane-nitrous oxide anesthesia in adults: a comparative study.

We performed a double-blinded, prospective, randomized controlled trial to compare intubating conditions facilitated by succinylcholine or sevoflurane. One hundred twenty patients were randomized to receive either succinylcholine or sevoflurane for tracheal intubation. For the Succinylcholine group, patients were induced with thiopental 5 mg. kg(-1) and tracheally intubated after administration of succinylcholine 1.5 mg. kg(-1) IV. Patients receiving sevoflurane took three vital capacity breaths of 8% sevoflurane and 66% N(2)O in O(2). At the loss of eyelash reflex, ventilation was assisted to establish end-tidal CO(2) between 25-30 mm Hg, and intubation was performed when end-tidal sevoflurane was approximately 6%. Criteria of jaw relaxation, vocal cords position, and intubating response were used to assess intubation condition. If the intubation score was < or = 6 of 12, it was described as acceptable, otherwise it was described as an unacceptable intubation condition. Tracheal intubation was successful in all patients. Intubator and observer blinded as to patient group judged that four patients (6.7%) in the Sevoflurane group and only one patient (1.7%) in the Succinylcholine group had an unacceptable intubation condition. However, there was no significant difference between groups (P > 0.05). Therefore, the three vital capacity breaths inhalation technique with sevoflurane may be an alternative for endotracheal intubation in adults.

Adult↗
PubMed1995

Clinical characteristics of sevoflurane in children. A comparison with halothane.

BACKGROUND: For pediatric patients, sevoflurane may be an alternative to halothane, the anesthetic agent used most commonly for inhalational induction. The induction, maintenance, and emergence characteristics were studied in 120 unpremedicated children 1-12 yr of age randomly assigned to receive one of three anesthesia regimens: sevoflurane with oxygen (group S), sevoflurane with nitrous oxide and oxygen (group SN), or halothane with nitrous oxide and oxygen (group HN). METHODS: Anesthetic was administered (via a Mapleson D, F or Bain circuit) beginning with face mask application in incremental doses to deliver maximum inspired concentrations of 4.5% halothane or 7% sevoflurane. End-tidal concentrations of anesthetic agents and vocal cord position were noted at the time of intubation. Elapsed time intervals from face mask application to loss of the eyelash reflex, intubation, surgical incision, and discontinuation of the anesthetic were measured. Heart rate, systolic, diastolic, and mean blood pressures, and end-tidal anesthetic concentrations were measured at fixed intervals. Anesthetic MAC-hour durations were calculated. The end-tidal concentration of anesthetic was adjusted to 1 MAC (0.9% halothane, 2.5% sevoflurane) for at least the last 10 min of surgery. Intervals from discontinuation of anesthetic to hip flexion or bucking, extubation, administration of first postoperative analgesic, and attaining discharge criteria from recovery room were measured. Venous blood was sampled at anesthetic induction, at the end of anesthesia, and 1, 4, 6, 12, and 18-24 h after discontinuation of the anesthetic for determination of plasma inorganic fluoride content. RESULTS: Induction of anesthesia was satisfactory in groups SN and HN. Induction in group S was associated with a significantly greater incidence of excitement (35%) than in the other groups (5%), resulting in a longer time to intubation. The end-tidal minimum alveolar concentration multiple of potent inhalational anesthetic at the time of intubation was significantly greater in patients receiving halothane than in patients receiving sevoflurane. Induction time, vocal cord position at intubation, time to incision, duration of anesthesia, and MAC-hour duration were similar in the three groups. During emergence, the time to hip flexion was similar among the three groups, whereas the time to extubation, time to first analgesic, and time to attaining discharge criteria were significantly greater in group HN than in groups S and SN. Mean heart rate and systolic blood pressure decreased during induction in group HN but not in groups S and SN. The maximum serum fluoride concentration among all patients was 28 microM. CONCLUSIONS: Sevoflurane with nitrous oxide provides satisfactory anesthetic induction and intubating conditions; however, induction using sevoflurane without nitrous oxide is associated with a high incidence of patient excitement and prolonged time to intubation. There were greater decreases in heart rate and systolic blood pressure during induction with halothane than with sevoflurane; however, these differences may be dose-related. The more rapid emergence with sevoflurane when compared with halothane is consistent with the low solubility of sevoflurane in blood and tissues. Children receiving sevoflurane for up to 9.6 MAC-hours did not develop high serum fluoride concentrations.

Anesthesia, Inhalation↗
PubMed1996

Induction, recovery, and safety characteristics of sevoflurane in children undergoing ambulatory surgery. A comparison with halothane.

BACKGROUND: Sevoflurane is an inhalational anesthetic with characteristics suited for use in children. To determine whether the induction, recovery, and safety characteristics of sevoflurane differ from those of halothane, the following open-labeled, multicenter, randomized, controlled, phase III study in children undergoing ambulatory surgery was designed. METHODS: Three hundred seventy-five children, ASA physical status 1 or 2, were randomly assigned in a 2:1 ratio to receive either sevoflurance or halothane, both in 60% N2O and 40% O2. Anesthesia was induced using a mask with an Ayre's t piece or Bain circuit in four of the centers and a mask with a circle circuit in the fifth center. Maximum inspired concentrations during induction of anesthesia were 7% sevoflurane and 4.3% halothane. Anesthesia was maintained by spontaneous ventilation, without tracheal intubation. End-tidal concentrations of both inhalational anesthetics were adjusted to 1.0 MAC for at least 10 min before the end of surgery. Induction and recovery characteristics and all side effects were recorded. The plasma concentration of inorganic fluoride was measured at induction of and 1 h after anesthesia. RESULTS: During induction of anesthesia, the time to loss of the eyelash reflex with sevoflurane was 0.3 min faster than with halothane (P < 0.001). The incidence of airway reflex responses was similar, albeit infrequent with both anesthetics. The total MAC.h exposure to sevoflurane was 11% less than the exposure to halothane (P < 0.013), although the end-tidal MAC multiple during the final 10 min of anesthesia was similar for both groups. Early recovery as evidenced by the time to response to commands after sevoflurane was 33% more rapid than it was after halothane (P < 0.001), although the time to discharge from hospital was similar for both anesthetics. The mean ( +/- SD) plasma concentration of inorganic fluoride 1 h after discontinuation of sevoflurane was 10.3 +/- 3.5 microM. The overall incidence of adverse events attributable to sevoflurane was similar to that of halothane, although the incidence of agitation attributable to sevoflurane was almost threefold greater than that attributable to halothane (P < 0.004). CONCLUSIONS: Sevoflurane compared favorably with halothane. Early recovery after sevoflurane was predictably more rapid than after halothane, although this was not reflected in a more rapid discharge from the hospital. The incidence of adverse events was similar for both anesthetics. Clinically, the induction, recovery, and safety characteristics of sevoflurane and halothane are similar. Sevoflurane is a suitable alternative to halothane for use in children undergoing minor ambulatory surgery.

Ambulatory Surgical Procedures↗
PubMed1999

Changes in electroencephalogram and autonomic cardiovascular activity during induction of anesthesia with sevoflurane compared with halothane in children.

BACKGROUND: This study was design to assess clinical agitation, electroencephalogram (EEG) and autonomic cardiovascular activity changes in children during induction of anesthesia with sevoflurane compared with halothane using noninvasive recording of EEG, heart rate, and finger blood pressure. METHODS: Children aged 2-12 yr premedicated with midazolam were randomly assigned to one of three induction techniques: 7% sevoflurane in 100% O2 (group SevoRAPID); 2%, 4%, 6%, and 7% sevoflurane in 100% O2 (group SevoINCR); or 1%, 2%, 3%, and 3.5% halothane in 50% N2O-50% O2 (group HaloN2O). An additional group of children who received 7% sevoflurane in 50% N2O-50% O2 (group SevoN2O) was enrolled after completion of the study. Induction was videotaped. EEG, heart rate, and finger blood pressure were continuously recorded during induction until 5 min after tracheal intubation and analyzed in frequency domain using spectral analysis. RESULTS: Agitation was more frequent when anesthesia was induced with 100% O2 compared to the mixture of oxygen and nitrous oxide. No seizures were recorded in any group. In the four groups, induction of anesthesia was associated with an increase in EEG total spectral power and a shift toward the low-frequency bands. Sharp slow waves were present on EEG tracings of the three sevoflurane groups, whereas slow waves and fast rhythms (spindles) were observed in the halothane group. Sevoflurane induced a greater withdrawal of parasympathetic activity than halothane and a transient relative increase in sympathetic vascular tone at loss of eyelash reflex. CONCLUSIONS: Agitation observed during sevoflurane induction was not associated with seizures. Sevoflurane induction induced a marked inhibition of parasympathetic control of heart rate.

Anesthesia, Inhalation↗
PubMed2007

Effect of a 0.5% dilution of propofol on pain on injection during induction of anesthesia in children.

BACKGROUND: Pain on injection of propofol in children has been reported to be as high as 30-80%. The reason for the pain is assumed to be the aqueous phase of the propofol emulsion. Therefore, for the first time, this study tested the hypothesis that dilution of propofol to a 0.5% emulsion might reduce the incidence of pain during propofol injection. METHODS: The study design was prospective, monocenter, double-blind, and randomized. Sixty-four children aged 2-6 yr were scheduled to receive 0.5% or 1.0% propofol in a medium-chain-triglyceride/long-chain-triglyceride emulsion. Incidence and intensity of pain were assessed by spontaneous expressions of pain and withdrawal of the arm. In a subgroup of 21 children, serum triglyceride levels were measured before and 3 and 20 min after induction. Adverse events were recorded. RESULTS: Amounts of propofol required until loss of eyelash reflex were 4.40+/-1.01 mg/kg for 0.5% propofol and 4.31+/-0.86 mg/kg for 1.0% propofol. Percentages of children who showed at least one pain reaction were 23.3% in the 0.5% propofol group and 70.0% in the 1.0% propofol group (P<0.001). Serum triglycerides were higher in the 0.5% propofol group 3 and 20 min after injection (251.7 vs. 148.8 mg/dl; P=0.001 and 135.5 vs. 75.5 mg/dl; P=0.03). Adverse events or complications did not occur. CONCLUSIONS: Dilution of propofol to a 0.5% medium-chain-triglyceride/long-chain-triglyceride emulsion reduced pain effectively during injection in children aged 2-6 yr. Cumulative doses until 4-5 mg/kg propofol led to moderate increases of triglyceride levels and did not result in significant adverse events.

Child↗
PubMed2006

Does the upper eyelid skin become thinner with age?

The aim of this study was to elucidate whether the thickness of the upper eyelid skin is affected by aging. The upper eyelid skins of 61 Korean women were subject to the study. Fusiform pieces of the skin, 3-mm wide, were obtained at the midpupillary line, 7 mm above the eyelashes, during blepharoplasty. The specimens were stained with hematoxylin and eosin. Thickness of the skin was measured by a micrometer under a microscope. It was substantially the same in all of the age groups. The thickness varied from 818 +/- 85 microm in subjects 60 years or older to 884 +/- 112 microm in subjects between 21-and 30-years old; the mean was 860 +/- 305 microm. Thickness of the epidermis varied from 46 +/- 6 microm in subjects between 41- and 50-years old to 52 +/- 10 microm in subjects between 31- and 40-years old; the mean was 49 +/- 9 microm. There were no significant differences among the age groups (P = 0.440). Thickness of the dermis varied from 771 +/- 78 microm in subjects older than 61 years to 834 +/- 112 microm in subjects between 21-and 30-years old; the mean was 811 +/- 117 microm. There were no significant differences between the age groups (P = 0.553). It is noticeable that upper eyelid skin thickness is not affected remarkably by aging.

Adolescent↗
PubMed1984

Eye-liner implants: a new cosmetic procedure.

A new microsurgical procedure for implanting various earth-tone color pigments to the base of the eyelashes has been developed for the handicapped female who wishes to have her eyes enhanced without the need for daily application. A 2-year study of 250 eyelids has been done revealing no untoward effects or loss of pigmentation.

Coloring Agents↗
PubMed1990

The use of conchal cartilage graft in involutional entropion.

A simple and stable technique for repairing involutional entropion is described. Through a transconjunctival incision between the lower border of tarsus and the lower lid retractor, the eyelid is divided between the tarsus and the orbicularis oculi muscle into external and internal layers. The internal layer is moved upward until the eyelashes turn outward, and then through-and-through sutures are placed to fix it in this corrected state. The resultant defect between the lower end of the tarsus and the retractor is filled with a conchal cartilage graft. The raw surface of the cartilage is epithelialized from the surrounding mucosa within 1 to 2 weeks without shrinkage. This technique is more stable than any other technique that we have performed.

Aged↗
PubMed2000

Laser blepharoplasty with transconjunctival orbicularis muscle/septum tightening and periocular skin resurfacing: a safe and advantageous technique.

Carbon dioxide (CO2) laser blepharoplasty with orbicularis oculi muscle tightening and periorbital skin resurfacing is a safe procedure that produces excellent aesthetic results and diminishes the occurrence of complications associated with skin and muscle resection in the lower lid, particularly permanent scleral show and ectropion. The authors present a review of 196 cases of carbon dioxide laser blepharoplasty and periocular laser skin resurfacing performed at their center from April of 1994 to September of 1998. Of these cases, 113 patients underwent four-lid blepharoplasty, 59 underwent upper lid blepharoplasty only, and 24 underwent lower lid blepharoplasty only. Prophylactic lateral canthopexy was performed in 24 patients. Concomitant procedures (brow lift/rhytidectomy/rhinoplasty) were performed in 92 patients. The carbon dioxide laser blepharoplasty procedure resulted in no injuries to the globe, cornea, or eyelashes. Combined with laser tightening of the orbicularis oculi muscle and septum and periocular skin resurfacing, the transconjunctival approach to lower blepharoplasty preserves lower lid skin and muscle. Elimination of the traditional scalpel skin/muscle flap procedure results in a dramatically lower complication rate, particularly with regard to permanent ectropion and scleral show. Laser shrinkage of the orbicularis muscle and septum through the transconjunctival incision enables the correction of muscle aging changes such as orbicularis hypertrophy and malar festoons. The addition of periocular resurfacing enables the correction of skin aging changes of the eyelid that are not addressed by traditional scalpel blepharoplasty. In addition, lateral canthopexy constitutes an important adjunct to the laser blepharoplasty procedure for the correction of lower lid canthal laxity.

Blepharoplasty↗
PubMedDate not supplied

A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel.

PURPOSE: Generalized atrophic benign epidermolysis bullosa is a nonlethal form of junctional EB with an autosomal recessive inheritance. There is generalized cutaneous blister formation at sites of trauma, atrophic alopecia affecting scalp, eyelash and eyebrow, dystrophic nail changes, and tooth abnormalities. In this study, we have studied a five-generation Palestinian family affected with generalized atrophic benign epidermolysis bullosa. METHODS: We have performed linkage analysis to genes that are mutated in generalized atrophic benign epidermolysis bullosa, followed by direct sequencing of patient genomic DNA. RESULTS: We have shown that the disease is caused by a newly detected homozygous donor splice site mutation, IVS51+1G>A, in the type XVII collagen gene, COL17A1. CONCLUSION: The effect of a founder mutation introduced 3 to 4 generations before a disease appearance is demonstrated in this inbred family.

Autoantigens↗
PubMed2006

Keratitis associated with multiple endocrine deficiency.

PURPOSE: To report an 8-year-old girl with bilateral progressive visual loss and photophobia secondary to stem cell deficiency as a result of multiple endocrine deficiency. METHODS: A case report and review of medical literature. RESULTS: The patient suffered from severe photophobia and decreased visual acuity since May 2000. Despite multiple outpatient visits, no definite cause was found, and conservative treatments failed. On slit-lamp examination severe meibomian gland dysfunction, loss of eyelashes, decreased tear meniscus, diffuse corneal vascularization, and delayed punctate fluorescein staining of corneal epithelium were detected. She had also episodes of hypotension, oral candidiasis, and seizures. Her systemic work up revealed multiple endocrine deficiency (Addison disease and hypoparathyroidism). Hormone replacement therapy with fludrocortisone and oral calcium accompanied by punctual occlusion led to significant clinical recovery. CONCLUSION: In a pediatric patient with diffuse corneal vascularization and no definite cause, systemic workup should be done to rule out multiple endocrine deficiencies. Treatment consists of hormone replacement therapy and management of the dry eye.

Anti-Inflammatory Agents↗
PubMed2003

Recurrent solitary reticulohistiocytoma of the eyelid.

A healthy 13-year-old female presented with a 5-month history of an enlarging red-brown, firm lower eyelid mass associated with loss of eyelashes. An excisional biopsy revealed a well-circumscribed nodule composed of coalescing nests of epithelioid cells, rare multinucleated cells, and vacuolated macrophages and spindle cells. Additional studies revealed a positive vimentin and alpha(1)-antitrypsin, and negative S100 protein and Factor XIIIa immunophenotype. This constellation of clinicopathologic features is diagnostic of solitary reticulohistiocytoma, but also shows overlap with xanthogranuloma, a common childhood histiocytosis. Reticulohistiocytoma should be considered in the differential diagnosis of eyelid tumors and has the potential for local recurrence. Diffuse cutaneous reticulohistiocytosis or multicentric reticulohistiocytosis should be considered if similar cutaneous lesions with or without symptoms of arthritis are present, respectively.

Adolescent↗
PubMed2005

Medial upper eyelid shortening to correct medial eyelid laxity in floppy eyelid syndrome: a new surgical approach.

PURPOSE: To describe and present the results of a new surgical technique for patients with floppy eyelid syndrome, based on the medial upper eyelid stretching encountered in this condition. METHODS: A case series of 24 patients with floppy eyelid syndrome who where found to have symptomatic predominately medial upper eyelid laxity was analyzed. The history, clinical features, histopathology, and outcome were reviewed after patients underwent medial upper eyelid shortening with or without upper eyelid skin reduction as the first surgical procedure. RESULTS: Of the 24 patients, 18 were men (75%) with a mean age at referral of 56 years, having ocular discomfort and conjunctival irritation/papillary conjunctivitis as the main complaints at presentation. Obesity was present in 96% of cases, with lower eyelid laxity/ectropion (50%) and upper eyelid eyelash ptosis (29%) in conjunction with the upper eyelid laxity. The affected side was related to sleeping habits or recurrent mechanical eyelid trauma. Histologic studies showed a nonspecific inflammatory cell infiltrate and loss of elastin with loose dermal connective tissue. After surgery, complete relief of ocular symptoms and good functional and cosmetic results were present in all cases after 18 months of follow-up. CONCLUSIONS: This new surgical approach is based on the presence of predominately medial upper laxity in patients with floppy eyelid syndrome. The excision of this stretched area stabilized the upper eyelid in an anatomic fashion, providing a good and stable long-term result. The possible mechanisms involved in the medial upper eyelid stretching are discussed.

Adolescent↗
PubMed2004

Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome.

We report a 5 9/12-year-old male with Cenani-Lenz syndactyly (CLS). He presented with three malformed digits on each hand and bilateral 2,3 partial cutaneous toe syndactyly. The expression of this presumed autosomal recessive disorder is variable and has been confused with split hand foot malformation (SHFM). Not all CLS patients show the typical 'spoon hand' configuration originally described. Affected CLS patients show a disorganized appearance of the phalanges with some degree of syndactyly/oligodactyly, in addition to metacarpal and carpal fusions. Radioulnar synostosis may be present. Cases lacking radioulnar synostosis may show proximal dislocation of the radial heads. The distal limb anomalies seen in our patient resemble other reported CLS patients. Radiographic evaluation showed a disorganized appearance of the phalanges, a 'kissing delta phalanx' of one proximal phalanx, metacarpal fusions, carpal coalitions and posterior subluxation of the radial heads. Clinical examination revealed features suggestive of Kabuki syndrome including large, prominent ears, sparse, medially flared and arched eyebrows, wide palpebral fissures, long eyelashes, and oligodontia with flat head 'screwdriver-shaped' incisors, in addition to persistent finger and thumb-tip pads. The faces of CLS patients are rarely shown or described. However, some patients in published reports have large, prominent ears. A recent report suggested midfacial dysmorphism in two patients with CLS (). Although the findings of CLS with features of Kabuki syndrome in our patient may be coincidental, the faces of CLS patients need to be carefully evaluated and described to determine if there is a distinctive accompanying facial phenotype.

Bone and Bones↗