OBJECTIVE: To identify the genetic causes of a family with lymphedema-distichiasis syndrome (LDS). METHODS: The whole exome sequencing was performed in a aborted fetus as the proband, and a candidate gene was identified. Peripheral blood of 8 family members were collected. Genotypic-phenotypic analysis were carried out through PCR amplification and Sanger sequencing. RESULTS: The proband, and the mother, grandmother, uncle, granduncle of the proband all had distichiasis or varix of lower limb carried a CONCLUSIONS The
Aborted Fetus/physiopathology* ; Adult ; Eyelashes/pathology* ; Female ; Forkhead Transcription Factors/genetics* ; Frameshift Mutation ; Humans ; Lymphedema/pathology* ; Male ; Phenotype ; Pregnancy ; Whole Exome Sequencing

OBJECTIVE: To analyze FOXC2 gene variant in a family affected with lymphodema-distichiasis syndrome (LDS). METHODS: Peripheral blood samples were collected for the extraction of DNA and protein. Whole-exome sequencing was carried out to detect variants in the proband. Suspected variant was validated by Sanger sequencing. Western blotting was used to detect changes in protein expression. RESULTS: The proband and his mother were both found to carry a heterozygous nonsense variant c.177C>G (p.Tyr59X) of the FOXC2 gene, which was previously unreported. Down-regulated expression of FOXC2 was detected by Western blotting. Prenatal ultrasonography of the fetus indicated increased nuchal thickness. Amniocentesis was performed at 21+1 weeks of pregnancy, genetic testing suggested that the fetus also carried the c.177C>G variant. CONCLUSION The patients' condition may be attributed to the heterozygous nonsense variant c.177C>G of the FOXC2 gene, which resulted in a significant decrease in FOXC2 expression. Increased nuchal thickness may also be related with decreased FOXC2 expression. Above finding has expanded the variant spectrum of the FOXC2 gene.
Codon, Nonsense ; Eyelashes ; abnormalities ; Female ; Forkhead Transcription Factors ; genetics ; metabolism ; Gene Expression ; Genetic Testing ; Genetic Variation ; Humans ; Lymphedema ; genetics ; Pedigree ; Pregnancy ; Prenatal Diagnosis

Cornelia de Lange syndrome (CdLS) is a rare multisystemic disorder that is characterized by mental retardation, prenatal and postnatal growth retardation, limb anomalies, and distinctive facial features, which include arched eyebrows that often meet in the middle (synophrys), long eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned nose. Ophthalmic manifestations include long eyelashes, nasolacrimal duct obstruction, myopia, ptosis, and strabismus. There has been no report of surgical treatment for esotropia and unilateral ptosis in patients with CdLS in Korea. I report a patient with CdLS who underwent surgical treatment for esotropia and unilateral ptosis with a good surgical outcome.
De Lange Syndrome ; Ear ; Esotropia ; Extremities ; Eyebrows ; Eyelashes ; Humans ; Intellectual Disability ; Korea ; Myopia ; Nasolacrimal Duct ; Nose ; Strabismus ; Tooth

Phthirus pubis usually infests the pubis, groin, buttocks and perianal region. It can sometimes infest the thighs, abdomen, chest, axillae and beard. Eyelashes and eyebrows may be involved in children. The involvement of the scalp is very rare. We describe a case of P. pubis infestation located exclusively on the scalp in an adult woman. Neither lice/nits nor skin lesions were observed elsewhere, including eyebrows, eyelashes, axillae, pubis, buttocks and perianal region (the patient was hairless in the axillae and pubis). A review of the literature is enclosed.
Abdomen ; Adult ; Axilla ; Buttocks ; Child ; Eyebrows ; Eyelashes ; Female ; Groin ; Humans ; Phthirus ; Pubic Bone ; Scalp ; Skin ; Thigh ; Thorax

BACKGROUND: Little is known concerning hair diameter variation within the safe donor area for hair transplantation surgery. Thicker or thinner hair may be needed, depending on the recipient area, hairline design, and the purpose of surgery. METHODS: Twenty-seven patients (7 men and 20 women; mean age, 28 years; range, 20–47 years) were included in this study. The midoccipital point was used as the reference point on the horizontal plane at the upper border of the helical rim. The target area width was 15 cm (7.5 cm to the right and left of the reference point) and the height was 8 cm (2 cm above and 6 cm below the reference point). The study area was divided horizontally into 3 5-cm sections (A, B, C) and vertically into 4 2-cm sections (1–4), creating a total of 12 zones. Ten anagen hairs were randomly obtained from each zone and their diameters were measured. RESULTS: Hair diameter in the 4 vertical sections varied significantly, gradually decreasing from sections 1 (superior) to 4 (inferior) in all 3 horizontal sections (A, B, and C). CONCLUSIONS: Our results suggest that sections 1 and 2 of the occipital safe donor area would be useful for obtaining thicker hair, such as in procedures to treat male- and female-pattern hair loss, whereas hair from zones 3 and 4 could be useful for transplantation surgery requiring thinner hair, such as eyebrows, eyelashes, and female hairline correction. Our results may be clinically valuable for planning hair transplant surgery and choosing the optimal donor region.
Eyebrows ; Eyelashes ; Female ; Hair Follicle ; Hair* ; Humans ; Male ; Tissue Donors* ; Transplant Donor Site ; Transplantation

PURPOSE: To report a case of corneal opacity improved by treatment of demodex blepharitis. CASE SUMMARY: A 50-year-old female who received sub-laser-assisted in situ keratomileusis (LASIK) flap surgery was referred to our clinic with corneal opacity and neovascularization in her left eye. Her visual acuity was 0.5. Telangiectasis of the eyelid margin and meibomian gland dysfunction were observed. Seven Demodex folliculorum were found in 4 eyelashes of the left eye. Lid scrub with 0.4% polyhexamethylene biguanide (PHMB) and ointment containing dexamethasone was started for demodex blepharitis treatment. After 6 months of treatment, the number of Demodex folliculorum was decreased to 2 and the best corrected visual acuity was 0.8. Corneal opacity and neovascularization were also improved. CONCLUSIONS: The present study showed that demodex blepharitis can induce atypical corneal opacity and neovascularization after LASIK surgery. Evaluation and treatment of demodex blepharitis in these patients is important.
Blepharitis* ; Corneal Neovascularization ; Corneal Opacity* ; Dexamethasone ; Eyelashes ; Eyelids ; Female ; Humans ; Keratomileusis, Laser In Situ ; Meibomian Glands ; Middle Aged ; Telangiectasis ; Visual Acuity

PURPOSE: To investigate the inhibitory effect of 0.02% mitomycin C on eyelash regrowth when injected to the eyelash hair follicle immediately after radiofrequency ablation. METHODS: We prospectively included 21 trichiasis patients from June 2011 to October 2012. Twenty eyes of 14 patients were treated with 0.02% mitomycin C to the hair follicle immediately after radiofrequency ablation in group 1, while radiofrequency ablation only was conducted in ten eyes of seven patients in group 2. Recurrences and complications were evaluated until six months after treatment. RESULTS: One hundred sixteen eyelashes of 20 eyes in group 1 underwent treatment, and 19 (16.4%) eyelashes recurred. Eighty-four eyelashes of ten eyes in group 2 underwent treatment, and 51 (60.7%) eyelashes recurred. No patients developed any complications related to mitomycin C. CONCLUSIONS: Application of 0.02% mitomycin C in conjunction with radiofrequency ablation may help to improve the success rate of radiofrequency ablation treatment in trichiasis patients.
Antibiotics, Antineoplastic/administration & dosage ; Catheter Ablation/*methods ; Dose-Response Relationship, Drug ; Eyelashes ; Female ; Follow-Up Studies ; Hair Follicle ; Humans ; Injections ; Male ; Middle Aged ; Mitomycin/*administration & dosage ; Prospective Studies ; Treatment Outcome ; Trichiasis/diagnosis/*therapy

PURPOSE: To investigate the inhibitory effect of 0.02% mitomycin C on eyelash regrowth when injected to the eyelash hair follicle immediately after radiofrequency ablation. METHODS: We prospectively included 21 trichiasis patients from June 2011 to October 2012. Twenty eyes of 14 patients were treated with 0.02% mitomycin C to the hair follicle immediately after radiofrequency ablation in group 1, while radiofrequency ablation only was conducted in ten eyes of seven patients in group 2. Recurrences and complications were evaluated until six months after treatment. RESULTS: One hundred sixteen eyelashes of 20 eyes in group 1 underwent treatment, and 19 (16.4%) eyelashes recurred. Eighty-four eyelashes of ten eyes in group 2 underwent treatment, and 51 (60.7%) eyelashes recurred. No patients developed any complications related to mitomycin C. CONCLUSIONS: Application of 0.02% mitomycin C in conjunction with radiofrequency ablation may help to improve the success rate of radiofrequency ablation treatment in trichiasis patients.
Antibiotics, Antineoplastic/administration & dosage ; Catheter Ablation/*methods ; Dose-Response Relationship, Drug ; Eyelashes ; Female ; Follow-Up Studies ; Hair Follicle ; Humans ; Injections ; Male ; Middle Aged ; Mitomycin/*administration & dosage ; Prospective Studies ; Treatment Outcome ; Trichiasis/diagnosis/*therapy

PURPOSE: To evaluate the treatment efficacy of polyhexamethylene biguanide (PHMB) lid scrub on Demodex blepharitis. METHODS: Thirty-one patients diagnosed with Demodex blepharitis were evaluated every 2 weeks during 8 weeks of lid scrub treatment with 0.4% PHMB. Patients underwent epilation of 4 eyelashes in each eye, and the number of Demodex lesions was counted. The patients answered questionnaires regarding ocular surface discomfort and underwent ophthalmologic exams including slit lamp and tear breakup time (TBUT). Compliance was recorded as 1 of 3 stages (good, moderate, poor). RESULTS: One patient was excluded for poor compliance. After PHMB lid scrub for 8 weeks, Demodex count was reduced in 28 of 30 patients (pre-PHMB 7.9 +/- 3.6 counts, post-PHMB 2.2 +/- 2.4 counts, p < 0.01). In addition, TBUT showed a statistically significant increase after PHMB lid scrub (pre-PHMB 2.7 +/- 0.8 seconds, post-PHMB 3.4 +/- 0.9 seconds, p < 0.01). Ocular surface disease index (OSDI) score was reduced in 28 of 30 patients (pre-PHMB 22.0 +/- 10.7 points, post-PHMB 7.4 +/- 6.0 points, p < 0.01). CONCLUSIONS: Eight weeks of treatment with polyhexamethylene biguanide lid scrub on Demodex blepharitis had good treatment efficacy for reducing Demodex counts and OSDI scores and increasing TBUT.
Blepharitis* ; Compliance ; Eyelashes ; Hair Removal ; Humans ; Surveys and Questionnaires ; Tears ; Treatment Outcome

PURPOSE: To introduce 2 cases of trichomegaly associated with the use of systemic epidermal growth factor receptor (EGFR) inhibitors for the treatment of lung cancer. CASE SUMMARY: An 82-year-old female visited our clinic for ocular pain in both eyes. She was suffering from metastatic lung cancer and was under daily treatment with gefitinib (Iressa(R), AstraZeneca, London, UK) for 6 months. On ophthalmologic examination, she presented with abnormally elongated eyelashes, hyperemic conjunctiva and dense corneal erosion. A 52-year-old male who was diagnosed with non-small cell lung cancer 7 months before and treated with erlotinib (Tarceva(R) OSI Pharmaceuticals, Inc., Melville, NY, USA) was referred to our clinic for injection and foreign body sensation in both eyes. Although there were no remarkable changes in eyelashes at the initial visit, long, curly, uneven eyelashes were observed after 3 months. CONCLUSIONS: Due to the increased use of EGFR inhibitors in anti-cancer treatment, ophthalmologists should be aware of these chemotherapeutics' adverse effects.
Aged, 80 and over ; Carcinoma, Non-Small-Cell Lung ; Conjunctiva ; Eyelashes* ; Female ; Foreign Bodies ; Humans ; Lung Neoplasms ; Male ; Middle Aged ; Receptor, Epidermal Growth Factor ; Sensation ; Erlotinib Hydrochloride