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The use of liquid nitrogen cryospray for treatment of trichiasis.

Cryosurgical destruction of eyelashes has been successful using a double freez-thaw liquid nitrogen spray technique. While other cryogens are successful in treating trichiasis, they are contraindicated in the treatment of malignant eyelid lesions. If the clinician intends to treat both these entities, it would be simpler to use a liquid nitrogen unit; otherwise, two separate cryosurgical instruments would be required. The liquid nitrogen treatment requires two cycles of a rapid freeze to -15 degrees C coupled with a slow thaw and has given us a 90%+ success rate. Contraindications in treating trichiasis with cryotherapy include paralytic lids and heavily pigmented patients. In general, we do not treat trichiasis involving less than one-third of the lid, especially with young, healthy-appearing lid margins.

Cryosurgery↗

Hereditary late-onset lymphedema.

Two different types of hereditary late-onset lymphedema are presented. In one family the father and one son had recurrent streptococcal lymphangitis beginning in childhood. In the son there was lymphatic hypoplasia in both legs with the infection having only occurred in one. Prophylaxis with penicillin prevented the recurrent lymphangitis. Because of 30 years of untreated lymphangitis, the father has chronic severe lymphedema. The second type, lymphedema associated with extra eyelashes (distichiasis) and a wide spinal canal, occurred in a woman whose lymphedema began at age 12 but in whom the hereditary nature of the disorder was not recognized until she was 29. Both of these types of late-onset lymphedema, lymphedema with lymphangitis and lymphedema with distichiasis, are due to autosomal dominant genes. Both families would have benefited from early diagnosis of the cause of the lymphedema.

Adult↗

X-ray epilation for the treatment of trichiasis.

.richiasis is a complication of many different disorders of the eyelids. Treatment is difficult and painful when conventional methods of plucking, surgical excision, electrolysis, or cryotherapy are employed. Since superficial x-ray therapy for the treatment of eyelid skin cancers causes permanent loss of the eyelashes in the irradiated field, we attempted to exploit this observation for the treatment of trichiasis. A rabbit model was used to determine the minimum permanent epilating dose. The dose was found to be approximately 4,000 rad of superficial radiation along with the following factors: 110 kV, 10 mamp, a target skin distance of 20 cm, a half-value layer of 1.0 mm of aluminum, and no filter. The dosage schedule used was 300 rad given three times per week. Two patients with severe scarring trichiasis were treated with the same factors and a total dose of 4,000 rad; excellent results were achieved. We believe that x-ray therapy is an easy, safe, and painless method for the management and cure of chronic trichiasis.

Animals↗

A new treatment of pthiriasis palpebrarum.

Treatment of phthiriasis palebrarum so far is unsatisfactory and prolonged. It was an accidental finding that led us to try various strengths of fluorescein on head lice. It was seen from our study that 20% fluorescein resulted in the lice' instantaneous death. This percentage was used in all our subsequent cases of phthiriasis with excellent results. A new method for the treatment of phthiriasis palpebrarum from the eyelash by a single application of 20% fluorescein is described. This method required no sedation or anesthetic and can be carried out as an outpatient department procedure. It is nontoxic and not irritating. There is no risk of the physician being infested, as the lice and nits are killed instantaneously.

Adolescent↗

Trichotillomania: ophthalmic presentation.

PURPOSE: A case of trichotillomania, or compulsive hair-pulling, involving the eyelids is presented to alert ophthalmologists to this common, but frequently overlooked cause of eyelash and eyebrow alopecia. METHODS AND RESULTS: Clinical records of a 33-year-old woman suffering from trichotillomania were reviewed. Compulsive hair-pulling began in childhood and had become chronic. Psychiatric intervention was unsuccessful. CONCLUSIONS: The diagnosis of trichotillomania is made on history and slit-lamp examination findings. A skin biopsy may be necessary to exclude alopecia areata. Adults should be referred to a psychiatrist. Although childhood disease is usually benign, often reflecting a disturbed parent-child relationship, in adults hair-pulling is generally chronic and associated with psychiatric illness.

Adult↗

Cryosurgery for treatment of trichiasis.

We cryosurgically destroyed eyelashes in rabbits and applied the technique to treat 23 selected patients with trichiasis. Liquid nitrogen was sprayed on the eyelid margin by using a double, rapid-freeze, slow-thaw cycle monitored by a subcutaneous thermocouple to -30 degrees C. It was an improvement on electrolysis and a simple alternative to surgery.

Alopecia↗

The use of cryotherapy for trichiasis.

Cryosurgical destruction of aberrant eyelashes was performed on 72 eyelids. Seven of nine failures occurred following major deviation from recommended technique. All but one recurrence were successfully re-treated. Notching of the eyelid was observed in one patient. The technique utilized a nitrous oxide gas-cooled cryoprobe. Tissue temperature was monitored by a subcutaneous microthermocouple in the region of the lash follicle to -20 C in a double freeze-thaw cycle.

Cryosurgery↗

Monopolar electrosurgical flash fire.

A 78-year-old man underwent ectropion repair with a monopolar electrosurgical unit. A flash fire occurred, resulting in a loss of eyelashes of the left upper and lower eyelids. A retrospective analysis of the case was conducted, including a review of the relevant literature. Although rare, the possibility of a flash fire should be considered when performing surgery with an electrosurgical unit. Minimizing supplemental oxygen and electrosurgical power settings may help to avoid such an incident.

Aged↗

[A case of trichotillomania (author's transl)].

The author reports on an 8-year-old girl who pulled out eyelashes of both eyes because she was "bored". There were found no further grave neurologic signs. This was a harmless psycho-neurosis.

Bipolar Disorder↗

Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology.

BACKGROUND: This study describes 12 cases of restrictive dermopathy seen during a period of 8 years by the Dutch Task Force on Genodermatology. We present these unique consecutive cases to provide more insight into the clinical picture and pathogenesis of the disease. OBSERVATIONS: Clinical features in more than 85% of these children were prematurity, fixed facial expression, micrognathia, mouth in O position, rigid and tense skin with erosions and denudations, and multiple joint contractures. Ten patients underwent histopathologic skin biopsy. The biopsy results showed flattening of rete ridges in all 10 patients, a thin dermis with collagen aligned parallel to the epidermis in 9 patients, and poorly developed dermal appendages in 9 patients. Additional findings in individual patients included blepharophimosis, inguinal skin tear, skin tear in the frontal neck area that developed during delivery, absent eyelashes, a wide ascendent aorta, and dextrocardia. Fibroblast cultures taken from 5 patients did not show abnormal alpha 2 beta 1 and alpha 1 beta 1 integrin expressions. CONCLUSIONS: The alleged rarity of restrictive dermopathy may be partially caused by medical unfamiliarity with this entity, despite its characteristic clinical and histopathologic picture. The pathogenesis of the disease still needs to be elucidated.

Abnormalities, Multiple↗

Restrictive dermopathy associated with transposition of the great arteries and microcolon: a rare neonatal entity with new symptoms.

BACKGROUND: Restrictive dermopathy is a very rare autosomal recessive skin disorder. The typical pathologic findings are striking: microstomia, micrognathia, thin but very tight translucent skin that tears spontaneously, and arthrogryposis multiplex. The mechanisms behind this disease are unknown. OBSERVATIONS: We describe for the first time a newborn girl with restrictive dermopathy, transposition of the great vessels, and microcolon. She had thin shiny skin with nearly no compliance indicating restrictive dermopathy. Additional dysmorphic findings included enlarged fontanelle, hypertelorism, absent eyelashes, small pinched nose, microstomia, micrognathia, dysplastic ears, pterygium colli, dyplastic fingers and toes with upper- and partial lower-limb flexion contractures, dysplastic genitalia, and muscular hypotonia. She also had left transposition of the great artery with small atrial septal defect, bilateral hypoplasia of the first rib, and congenital stenosis of the small bowel with microcolon. CONCLUSIONS: The pathogonomic diagnostic features remain reduced dermal thickness and nearly complete absence of elastic fibers in the dermis. In mice, a defective fatty acid transport protein 4 gene (Fatp4) leads to clear signs of restrictive dermopathy by influencing the arrangement of the lipids in the epidermis. Whether the left transposition of the great artery is associated with restrictive dermopathy or represents an additional malformation of multifactorial, polygenetic, or monogenetic cause remains open.

Abnormalities, Multiple↗

Clinicopathologic correlate of a fresh eyelid pigment implantation.

An eyelid with freshly applied black eyeliner pigment was examined histologically. X-ray microanalysis of the pigment suspension from the manufacturer's vial indicated that its composition was 98% iron and 2% titanium. Transmission electron microscopic examination disclosed that particles were in the extracellular matrix; intracellular particles were not seen. By light microscopy, implant material was detected in various levels of the dermis and was found in dermal lymphatics as well as within and surrounding a hair follicle. Our study suggests that systemic exposure to the implant material is possible and offers explanations for permanent eyelash loss, which we have seen following this procedure.

Aged↗

Trisomy in the distal end of the long arm of chromosome 3. A condition clinically similar to the Cornelia de Lange syndrome.

A patient had a trisomy for the distal portion of the third chromosome. The major clinical features were failure to thrive, profound mental retardation, dysmorphic head shape, a short nose, anteverted nares, long eyelashes, synophrys, characteristic mouth, and short stature. The similarities between the clinical picture and the Cornelia de Lange syndrome are very striking.

Child, Preschool↗

Autosomal recessive inheritance in the Setleis bitemporal 'forceps marks' syndrome.

We present the clinical findings in two children with the Setleis bitemporal "forceps marks" syndrome. The striking features include the following: (1) bitemporal scarring, an anomaly that resembles forceps marks; (2) periorbital puffiness with wrinkling of the skin; (3) abnormalities of the eyebrows; (4) anomalies of the eyelashes; (5) flattening of the nasal bridge with a bulbous nasal tip; (6) increased mobility of the skin, associated with severely redundant facial soft tissue; and (7) normal growth and development. The evidence that suggests that this unusual syndrome is inherited in an autosomal recessive fashion includes the following: (1) seven of the patients have come from the relatively isolated towns of San Sebastian and Aguadilla in Puerto Rico; (2) two sets of affected siblings have been described, and, in both cases, the siblings' parents were normal; and (3) one of the children described herein is the product of a consanguineous mating. Although the pathogenetic mechanism is unknown, Setleis syndrome is clearly inherited as an autosomal recessive trait.

Chromosome Aberrations↗

Autosomal dominant hypohidrotic ectodermal dysplasia in a large family.

We have studied an autosomal dominant hypohidrotic ectodermal dysplasia in 38 individuals over six generations in one family. Thirty-two affected individuals in four generations are still living. Questionnaire responses were received from 21 of the affected relatives and some of the individuals were examined by one of the authors. Smooth, dry, thin skin is seen in most affected individuals. Nearly all have fine, slow-growing scalp and body hair and all have sparse eyebrows and short eyelashes. Nearly all show a decrease in sweating, with some only sweating under the arms and/or on the palms and soles. All affected individuals lacked some deciduous teeth and some permanent teeth. Some teeth are abnormally shaped. Nail abnormalities are more variable and may occur more frequently with increasing age. No other abnormalities are seen in affected individuals in this family. We reviewed 40 autosomal dominant ectodermal dysplasia syndromes. This family bears some resemblance to a family described by Jorgensen et al. [1987]; however, it appears to represent a disorder that has not been described previously.

Abnormalities, Multiple↗

De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH.

We report on a 2-year-old boy presenting with growth and psychomotor retardation and facial anomalies, including a flat face with prominent forehead, a flat nasal bridge and flat occiput, unusually long curved eyelashes, and a thin upper lip with down-turned corners of the mouth. Analysis of GTG-banded chromosomes demonstrated that the patient had extra chromosomal material in the long arm of one chromosome 5. This chromosome aberration was characterized further using microdissection and FISH with band-specific probes and a de novo direct duplication (5)(q31.3q33.3) was shown to be present. We have compared this case with others known to be partially trisomic for chromosome 5q reported in the literature.

Abnormalities, Multiple↗

A phase I, II study of high-dose 5-fluorouracil and high-dose leucovorin with low-dose phosphonacetyl-L-aspartic acid in patients with advanced malignancies.

Twenty-eight patients with refractory advanced malignancies were treated with a 24-hour infusion of 5-fluorouracil (5-FU), leucovorin (LV), and N-(phosphonacetyl)-L-aspartic acid (PALA) weekly. Twenty-seven patients were evaluable to assess toxicity and antitumor activity. The PALA was administered as an intravenous bolus over 15 minutes at a fixed dose (250 mg/m2) 24 hours before the start of the 5-FU and leucovorin infusions. Initially the dose of 5-FU was 750 mg/m2; this was increased incrementally to 2600 mg/m2. The LV was administered in a fixed dose of 500 mg/m2 concurrently with the 5-FU over a 24-hour period. This regimen was repeated weekly. Diarrhea, stomatitis, nausea, and vomiting were among the dose-limiting toxicities. Others were hand-foot syndrome, hair loss of the scalp and eyelashes, overall weakness, rhinitis, and chemical conjunctivitis. The maximum tolerated dose of 5-FU in this combination and schedule was 2600 mg/m2. Seven of 14 patients treated with 2600 mg/m2 were able to tolerate the chemotherapy on a weekly basis without interruption. The other seven patients required dose reductions, but most received 5-FU at a dose of 2100 mg/m2. Twenty-three of 27 patients were treated previously. Eight patients had a partial response; five of these were treated previously. A complete response was observed in one patient with pancreatic carcinoma, previously untreated. The overall response rate for patients treated with 2100 or 2600 mg/m2 of 5-FU was nine of 18 patients (50%). Three of four previously untreated patients with pancreatic cancer responded to this treatment (two responded partially, and one had a complete response). One of three heavily pretreated patients with non-small cell lung cancer had a partial response as did a patient with breast cancer. Four of ten patients with colorectal cancer responded to the treatment (four partial responses), of whom three had been treated previously.

Adult↗

Steroids in relation to epilepsy and anaesthesia.

Increasing numbers of reports indicate direct effects of ovarian steroids on the central nervous system. Effects of progesterone and its metabolites on brain excitability in humans and in experimental animals have been studied. Anti-epileptic effects have been shown in cats and in women with partial epilepsy and well-defined epileptic foci. The reduced progesterone metabolite 5 alpha-pregnan-3 alpha-ol-20-one and its 5 beta analogue also decreased the epileptic activity resulting from a penicillin-induced cortical focus in cats. 5 alpha-Pregnan-3 alpha-ol-20-one protected mice against metrazol-, bicuculline- and picrotoxin-induced seizures but not against electroshock-and strychnine-induced seizures. Progesterone, 5 alpha-pregnan-3 alpha-ol-20-one and 5 beta-pregnan-3 alpha-ol-20-one also induce anaesthesia in humans and animals; in a rat model of anaesthesia 5 alpha-pregnan-3 alpha-ol-20-one was eight times more potent than methohexitone (the most potent anaesthetic barbiturate). Anaesthesia with loss of the eyelash reflex was observed in humans 75-90 seconds after the intravenous injection of 5 beta-pregnan-3 alpha-ol-20-one in lipid emulsion. The in vivo production and brain distribution of centrally active steroids has also been studied in relation to the phases of the ovarian and menstrual cycle. A subset of women with epilepsy show changes in seizure frequency in relation to hormonal variations during the menstrual cycle. In the luteal phase when progesterone levels are high the number of generalized seizures is low. It is possible that progesterone and its metabolites play a role in epileptic seizures and also in the premenstrual syndrome.

Anesthetics↗