OBJECTIVE: To explore the prenatal and postnatal features and genetic characteristics of patients with Lymphedema-Distichiasis syndrome (LDS) due to variants of FOXC2 gene. METHODS: A retrospective analysis was carried out on the phenotypic information, fetal ultrasound image, and genetic testing of two Chinese pedigrees diagnosed at the Third Affiliated Hospital of Zhengzhou University. A literature review was also carried out by searching the China National Knowledge Infrastructure (CNKI), Wanfang Database, and PubMed databases dated from January 2010 to June 2024 using keywords "Lymphedema-Distichiasis syndrome " and "FOXC2 ". This study has been approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethic No. 2021-046-01). RESULTS: Neither family was found to harbor chromosomal aneuploidy or pathogenic CNVs larger than 100 kb. The fetuses from pedigree 1 and pedigree 2 were respectively found to be heterozygous for a c.361C>T (p.R121C) variant and a c.168C>A (p.Y56*) variant of the FOXC2 gene. Both variants were paternally derived. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variants were classified as pathogenic and likely pathogenic, respectively. Literature search has identified 20 articles, and combined with our cases, a total of 117 patients were identified. Among them, 13 had shown prenatal phenotypes, primarily with increased nuchal translucency (NT) (12/13), urinary abnormalities (5/12), and fetal edema (4/13). Postnatal phenotypes were observed in 110 cases, mainly as distichiasis (87/110) and lymphedema (73/110). Only 6 cases had both prenatal and postnatal phenotypes. A total of 32 genetic variants were identified. CONCLUSION The primary prenatal manifestations of LDS include increased NT, fetal edema, pleural and abdominal effusion, and separation of renal collecting system. Postnatal phenotypes are primarily characterized by lymphedema, distichiasis, and spinal extradural arachnoid cysts. Discovery of the c.168C>A variant has expanded the spectrum of FOXC2 gene mutations in China.
Adult ; Female ; Humans ; Male ; Pregnancy ; China ; East Asian People/genetics* ; Eyelashes/abnormalities* ; Forkhead Transcription Factors/genetics* ; Genetic Testing ; Lymphedema/genetics* ; Pedigree ; Phenotype ; Retrospective Studies

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

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

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