RESUMO
Though it is widely acknowledged that cancer treatments cause hair loss on the scalp, there are limited data on how they affect eyebrow and eyelash hairs. Patients with eyebrow and eyelash loss, or madarosis, seek various treatment options ranging from camouflage techniques with makeup, permanent tattoos, and prescription medications. Though not yet studied in patients with cancer-induced madarosis, techniques such as scalp cooling, cryotherapy, and topical vasoconstrictors are promising preventative options. More robust research is needed to improve both the quality and quantity of available treatment and preventative options. There is a clear need for dermatologists to play a role in supportive oncodermatology for patients who experience eyebrow and eyelash loss secondary to chemotherapy, endocrine therapies, and radiation therapy. J Drugs Dermatol. 2024;23(5):327-331. doi:10.36849/JDD.8003.
Assuntos
Alopecia , Sobrancelhas , Pestanas , Humanos , Alopecia/etiologia , Alopecia/terapia , Alopecia/diagnóstico , Neoplasias/terapia , Neoplasias/complicações , Antineoplásicos/efeitos adversos , Antineoplásicos/administração & dosagem , Crioterapia/métodosRESUMO
OBJECTIVE: Demodex folliculorum blepharitis is typically confirmed with lash epilation and microscopic identification of mites. However, mite counts may vary with the epilation technique. As there is no gold standard to epilating lashes for the purposes of mite counts, the aim of this study was to compare three epilation techniques. METHOD: A prospective randomized double-blind study compared three epilation techniques on lashes with cylindrical dandruff. Techniques included (A) direct pulling of the lash; (B) rotating the lash before epilation; and (C) sliding the cylindrical dandruff away, lash rotation, and epilation. Mean mite counts were analyzed using a repeated-measures analysis of variance. RESULTS: Forty (n=40) participants (20 M: 20 F, mean age of 62.3±17.1 years) revealed similar mite counts between right (1.43±1.74) and left (1.35±1.59) eyes ( P =0.63). A significant difference ( P =0.03) in mite count was noted (technique A: 1.05 ± 1.60; technique B 1.76 ± 1.80; and technique C 1.36 ± 1.54) with technique B yielding the highest mite count ( P =0.04). CONCLUSION: Demodex mite count is a key parameter in establishing infestation or to determine treatment efficacy. This study revealed that rotating the lash before epilation yielded the highest mite count. Future studies should report the epilation technique used to allow for study comparisons.
Assuntos
Blefarite , Caspa , Infecções Oculares Parasitárias , Pestanas , Remoção de Cabelo , Infestações por Ácaros , Ácaros , Idoso , Animais , Humanos , Pessoa de Meia-Idade , Blefarite/terapia , Método Duplo-Cego , Infecções Oculares Parasitárias/diagnóstico , Infecções Oculares Parasitárias/terapia , Infestações por Ácaros/diagnóstico , Infestações por Ácaros/terapia , Estudos Prospectivos , Masculino , FemininoRESUMO
BACKGROUND: To investigate the root depth, root angle, and light and scanning electron microscopical anatomy of human eyelashes relevant to eyelash ablation. METHODS: Eyelash root depth, the angle between eyelash root and skin epithelium, spatial relationship, and scanning electron microscopical features of the eyelashes were studied on 4 upper and 4 lower eyelids of Caucasian (n = 4) and Indian (n = 4) cadaver heads according to a set protocol. RESULTS: There were significant differences in the mean eyelash root depth between Indians (2.3 ± 0.38 mm) and Caucasians (1.9 ± 0.26 mm; p = 0.007), as well as between upper eyelids and lower eyelids (1.9 ± 0.2 mm vs. 1.8 ± 0.1 mm). The mean angle between the lash follicle root and the skin epithelium was 75 ± 11 degrees and similar in both ethnic groups. The eyelash bulb was located close to the tarsal plate and meibomian glands and formed an angle of less than 15 degrees with the eyelash root. Scanning electron microscopy studies revealed that the eyelash bulb was 202 ± 12 µm wide in Indians and 170.6 ± 16.8 µm wide in Caucasian eyelids ( p = 0.08). The eyelashes were placed more closely in Indian eyelids than in Caucasian eyelids ( p = 0.03). The width of the cuticle layer varied between the hair shaft and the inner eyelid segment. CONCLUSIONS: There are differences in eyelash root depth, inter-eyelash distance, and cuticle thickness between Indian and Caucasian eyelids. The oblique orientation of the eyelash root and close proximity of the eyelash bulb to the tarsal plate should be kept in mind while doing the electroepilation procedure.
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Pestanas , Humanos , Pestanas/anatomia & histologia , Cabelo , Glândulas Tarsais , Pele , População BrancaRESUMO
PURPOSE: Congenital distichiasis is managed either by ablation, using laser, cryotherapy, or electroepilation, or by surgical excision with mucous membrane grafting. Ablative procedures are usually blind as the exact depth of distichiatic eyelashes is unknown. The described surgical technique utilizes meibography for imaging the root and depth of distichiatic eyelashes that aided in performing electroepilation. METHODS: Six patients (n = 24 eyelids; mean age 15.5 ± 12.2 years) underwent infrared meibography (Oculus Keratograph 5 M) and noninvasive tear breakup time prospectively. Eyelashes were electroepilated using a premarked needle inserted at a depth based on meibography findings in 4 patients. Surgical success was defined as no distichiatic eyelash regrowth and functional success was defined as the resolution of symptoms at a minimum of 3 months of follow-up. RESULTS: All 6 patients had all 4 eyelids involved to varying degrees, with a total of 230 distichiatic eyelashes. The median number of distichiatic eyelashes was 9 in the upper eyelids and 4.5 in the lower eyelids. Meibography revealed visible distichiatic eyelash roots in 70% of eyelashes in the upper eyelid and 87.8% in the lower eyelid, respectively. The median eyelash root depth was 2.7 mm (mean 2.9 mm, range 1.8-5.4 mm). The mean noninvasive tear breakup time was 12.2 seconds despite absent or rudimentary meibomian gland segments seen on meibography. The anatomical success was 75% (12/16 eyelids), and functional success was 87.5% (7/8 eyes) at a median follow-up of 5.5 months. CONCLUSION: Preoperative infrared meibography in eyelids with congenital distichiasis helps estimate the eyelash depth and can be used to guide eyelash ablation procedures.
Assuntos
Pestanas , Glândulas Tarsais , Humanos , Feminino , Masculino , Pestanas/anormalidades , Adolescente , Adulto , Criança , Glândulas Tarsais/diagnóstico por imagem , Adulto Jovem , Estudos Prospectivos , Lágrimas/metabolismo , Lágrimas/fisiologia , Eletrocirurgia/métodos , Doenças Palpebrais/cirurgia , Doenças Palpebrais/diagnóstico , Doenças Palpebrais/congênitoRESUMO
BACKGROUND: To evaluate the effectiveness of instillation technique education using self-video feedback in glaucoma patients. METHODS: Sixty-two patients who self-instilled glaucoma eyedrops were randomly assigned to the self-video feedback and control groups according to the block randomization. Each group of the patient was asked to instill eyedrops, and videos were recorded. For the control group, only an educational video was provided. In the self-video feedback group, the patients provided educational video and feedback using a recorded video of their own instillation. After 1 month of education, the patient's instillation techniques were video-recorded again. We divided the steps of instilling eyedrops into ten steps and evaluated whether each step was properly performed using the recorded images from each patient. The main outcome was the proportion of patients who properly instilled their eyedrops in each step. RESULTS: Before education, there was no significant difference in the proportion of patients who were properly instilled between the two groups. In the group that received video feedback, the proportion of patients who instilled the eyedrops correctly after education in some items was significantly higher than that of the control group, and in particular, the educational effect of 'avoids touching dropper to eyelid or eyelash' was superior. CONCLUSIONS: In patients with glaucoma, education on the method of instillation was effective in improving the techniques of instillation. In the items that required accurate actions, the video feedback that allowed the patient to observe themselves had a better improvement effect compared to the traditional education method. TRIAL REGISTRATION NUMBER: KCT0008090 (09/01/2023, retrospectively registered).
Assuntos
Pestanas , Glaucoma , Humanos , Soluções Oftálmicas , Pressão Intraocular , Estudos Prospectivos , Retroalimentação , Anti-Hipertensivos , Glaucoma/tratamento farmacológicoRESUMO
PURPOSE: To evaluate the safety and efficacy of lotilaner ophthalmic solution 0.25% compared with vehicle for the treatment of Demodex blepharitis. DESIGN: Prospective, randomized, double-masked, vehicle-controlled, multicenter, phase 3 clinical trial. PARTICIPANTS: Four hundred twelve patients with Demodex blepharitis were assigned randomly in a 1:1 ratio to receive either lotilaner ophthalmic solution 0.25% (study group) or vehicle without lotilaner (control group). METHODS: Patients with Demodex blepharitis treated at 21 United States clinical sites were assigned either to the study group (n = 203) to receive lotilaner ophthalmic solution 0.25% or to the control group (n = 209) to receive vehicle without lotilaner bilaterally twice daily for 6 weeks. Collarettes and erythema were graded for each eyelid at screening and at all visits after baseline. At screening and on days 15, 22, and 43, 4 or more eyelashes were epilated from each eye, and the number of Demodex mites present on the lashes was counted with a microscope. Mite density was calculated as the number of mites per lash. MAIN OUTCOME MEASURES: Outcome measures included collarette cure (collarette grade 0), clinically meaningful collarette reduction to 10 collarettes or fewer (grade 0 or 1), mite eradication (0 mites/lash), erythema cure (grade 0), composite cure (grade 0 for collarettes as well as erythema), compliance with the drop regimen, drop comfort, and adverse events. RESULTS: At day 43, the study group achieved a statistically significant (P < 0.0001) higher proportion of patients with collarette cure (56.0% vs. 12.5%), clinically meaningful collarette reduction to 10 collarettes or fewer (89.1% vs. 33.0%), mite eradication (51.8% vs. 14.6%), erythema cure (31.1% vs. 9.0%), and composite cure (19.2% vs. 4.0%) than the control group. High compliance with the drop regimen (mean ± standard deviation, 98.7 ± 5.3%) in the study group was observed, and 90.7% of patients found the drops to be neutral to very comfortable. CONCLUSIONS: Twice-daily treatment with lotilaner ophthalmic solution 0.25% for 6 weeks generally was safe and well tolerated and met the primary end point and all secondary end points for the treatment of Demodex blepharitis compared with vehicle control. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
Assuntos
Blefarite , Infecções Oculares Parasitárias , Pestanas , Infestações por Ácaros , Ácaros , Animais , Humanos , Infestações por Ácaros/tratamento farmacológico , Estudos Prospectivos , Soluções Oftálmicas , Blefarite/tratamento farmacológico , Blefarite/diagnóstico , Eritema/complicações , Infecções Oculares Parasitárias/diagnóstico , Infecções Oculares Parasitárias/tratamento farmacológicoRESUMO
BACKGROUND: To evaluate the clinical efficacy of combined minimal lower eyelid epicanthoplasty and thermal contraction for epiblepharon repair in Chinese children. METHODS: Between January 2017 and August 2020, a single surgeon corrected epiblepharon in Chinese children using minimal lower eyelid epicanthoplasty combined with thermal contraction. First, a minimal epicanthoplasty flap to balance the lower eyelid was made cross the lower eyelid epicanthus, which connected with a 20-mm-long incision 1.5 mm below the lower eyelid margin. After removing the hypertrophic orbicularis oculi muscle running between the lower epicanthal fold and the medial canthal tendon, thermal cauterization was applied to increase lower eyelid rotation by creating adhesions between the lower eyelid retractor and tarsus. The residual medial edge was sutured to the corner of the epicanthus to decrease the lower eyelid epicanthus. The postoperative follow-up ranged from 3 to 24 months. We retrospectively analyzed cases to determine whether this approach decreased the lower eyelid epicanthal fold to equalize the tension of the lower eyelid. The surgical outcomes including the direction of lower eyelid eyelashes, complications, and refractive errors were evaluated. RESULTS: Data from each eye of 53 Chinese children (29 female, 24 males; mean age: 5.3 ± 2.3 years) who had undergone minimal lower eyelid epicanthoplasty combined with thermal contraction were included. During follow-up, recurrence was observed in just one of the 106 eyes (0.94%), and two eyes (1.89%) showed under-correction. No visible scars formed in the postoperative period. All patients' parents were satisfied with the cosmetic results and had no serious complaints. The mean astigmatism was significantly reduced by the surgery from 1.82 ± 0.45 diopters (D) preoperatively to 1.43 ± 0.36 D postoperatively (P < 0.05). CONCLUSION: This surgery is easy to design, time-efficient, and is effective in the correction of epiblepharon. The procedure allows surgeons to achieve good appearance and natural eyelid contour without apparent complications.
Assuntos
População do Leste Asiático , Pestanas , Masculino , Humanos , Criança , Feminino , Pré-Escolar , Estudos Retrospectivos , Resultado do Tratamento , Povo AsiáticoRESUMO
BACKGROUND: Filamentary keratitis is an ocular condition that is tricky to handle for the difficulty to find the underlying cause. Here we report a case of filamentary keratitis associated with Demodex infestation which highlights the importance of Demodex mites as an easily-overlooked risk factor. CASE PRESENTATION: A 63-year-old woman had recurrent symptoms of foreign body sensation and sometimes painful feelings in her left eye soon after her surgical correction of ptosis in this eye. She was then diagnosed as conjunctivitis and given antibiotic eye drops. After one week, the patient complained of aggravation of symptoms with small corneal filaments in the left eye under slit-lamp examination. Despite the removal of filaments and addition of topical corticosteroids and bandage contact lenses, the patient's condition persisted with enlarged filaments and severe ocular discomfort. 3 days later, eyelashes with cylindrical dandruff were noticed and Demodex infestation was confirmed by microscopic examination of these eyelashes at our clinic this time. She was asked to use tea tree oil lid scrub twice daily. After 3 weeks, her filamentary keratitis was resolved with a dramatic improvement in symptoms and signs. And no recurrence of filamentary keratitis was noticed during the one-year follow-up. CONCLUSIONS: In this case, filamentary keratitis was resolved only with treatment of Demodex infestation while conventional treatment failed. Considering the fact that Demodex infestation is a common but easily overlooked condition, it may be suggestive to take Demodex infestation into account as a risk factor of filamentary keratitis, especially in refractory cases.
Assuntos
Blefarite , Infecções Oculares Parasitárias , Pestanas , Ceratite , Infestações por Ácaros , Óleo de Melaleuca , Humanos , Feminino , Pessoa de Meia-Idade , Infestações por Ácaros/complicações , Infestações por Ácaros/diagnóstico , Infestações por Ácaros/tratamento farmacológico , Ceratite/diagnóstico , Ceratite/tratamento farmacológico , Ceratite/etiologia , Óleo de Melaleuca/uso terapêutico , Infecções Oculares Parasitárias/complicações , Infecções Oculares Parasitárias/diagnóstico , Infecções Oculares Parasitárias/terapiaRESUMO
This study, which aimed to identify distress by sites of hair loss and psychosocial stressors for a pediatric alopecia areata population, enrolled 50 patients (32 females, 18 males, ages 7-17 years) from pediatric dermatology clinics, including a monthly hair disease clinic. Patients completed a 47-question survey. Scalp hair loss was rated as often or always bothersome in 34.7%; eyebrow loss in 24.3%; and eyelash loss in 21.6%, and 6 patients (12%) discontinued a social activity due to hair loss. Referral to behavioral/mental health specialists should be considered to improve psychosocial outcomes.
Assuntos
Alopecia em Áreas , Pestanas , Hipotricose , Masculino , Feminino , Humanos , Criança , Adolescente , Alopecia em Áreas/psicologia , Alopecia , Inquéritos e QuestionáriosRESUMO
Eyebrows and eyelashes serve important anatomical and social functions, and hair loss at these sites can impact patients significantly. Acquired eyebrow and eyelash loss (madarosis) may be due to a variety of underlying local or systemic disease processes; in other cases it may be idiopathic. There is a dearth of literature relating to eyebrow and eyelash loss, and there is limited guidance to help clinicians treat these clinical presentations in comparison with scalp alopecia. Here, we discuss the acquired causes of eyebrow and eyelash alopecia, our clinical approach to diagnosis and review treatment options for clinicians.
Assuntos
Pestanas , Humanos , Sobrancelhas , Alopecia/diagnóstico , Alopecia/etiologia , Alopecia/terapiaRESUMO
ABSTRACT: Demodex blepharitis is a common disease of the eyelid, affecting approximately 25 million Americans. This article reviews what is known about the mechanisms and impact of Demodex blepharitis, risk factors, signs and symptoms, diagnostic techniques, current management options, and emerging treatments. Demodex mites contribute to blepharitis in several ways: direct mechanical damage, as a vector for bacteria, and by inducing hypersensitivity and inflammation. Risk factors for Demodex blepharitis include increasing age, rosacea, and diabetes. The costs, symptom burden, and psychosocial effects of Demodex blepharitis are considerable. The presence of collarettes is pathognomonic for Demodex blepharitis. Redness, dryness, discomfort, foreign body sensation, lash anomalies, and itching are also hallmarks of the disease. Although a number of oral, topical, eyelid hygiene and device-based options have been used clinically and evaluated in studies for the management of Demodex blepharitis, none have been FDA approved to treat the disease. Recent randomized controlled clinical trials suggest that lotilaner ophthalmic solution, 0.25%, is a topical treatment with the potential to eradicate Demodex mites and eliminate collarettes and eyelid redness for an extended period.
Assuntos
Blefarite , Infecções Oculares Parasitárias , Pestanas , Infestações por Ácaros , Ácaros , Animais , Humanos , Infestações por Ácaros/diagnóstico , Blefarite/diagnóstico , Pálpebras , Inflamação , Infecções Oculares Parasitárias/diagnósticoRESUMO
Coronavirus disease 2019 life-threatening signs have aroused a great deal of attention since the beginning of the pandemic. In the initial stages of the pandemic, the pediatric population was mostly protected, and the symptoms in affected children were mild. Here, the authors present a 7-year-old boy with left upper eyelid ciliary madarosis that developed 9 weeks after coronavirus disease 2019 infection. During comprehensive ophthalmologic examination, no conjunctival injection, chemosis, erythema, or crusts on the eyelids and no other meibomian gland disease findings were detected. Comprehensive laboratory workup was performed to exclude any other possible causes of ciliary madarosis. All laboratory parameters tested within normal limits. In addition to the patient's ocular surface and physical examination findings, laboratory results and the timing of the symptoms as well as spontaneous recovery at follow-up visits led the authors to conclude that telogen effluvium was to cause of the isolated, unilateral ciliary madarosis in this case.
Assuntos
Alopecia em Áreas , COVID-19 , Doenças da Túnica Conjuntiva , Pestanas , Doenças do Cabelo , Masculino , Humanos , CriançaRESUMO
PURPOSE: This retrospective study was performed to examine surgical results of five different techniques for lower eyelid margin reconstruction after Mohs surgery: primary closure, semicircular flap, dermal matrix graft, sliding tarsal flap, and tarsoconjunctival flap. METHODS: Medical records were reviewed in 178 patients undergoing surgery between 2005 and 2020. Outcomes were evaluated (photographic review) by three oculoplastic observers masked to procedure type, both with and without knowledge of the eyelid defect. RESULTS: All patients achieved a good-excellent functional result and 90.4% were asymptomatic after surgery. Tarsoconjunctival flaps were associated with greater need for subsequent interventions (p < .001) and anterior lamellar deformities (p < .001). Semicircular flaps had a higher incidence of lateral canthal deformity (p < .001), but less eyelash disruption than other flap/graft techniques (p < .001). Mean cosmetic ratings (defect masked) were similar for dermal matrix grafts, semicircular, and sliding tarsal flaps; with each grading higher than tarsoconjunctival flaps (p ≤ .05). Among patients with 9-15 mm wide defects, results were better for semicircular and sliding tarsalflaps, than dermal matrix grafts (p ≤ .005) and tarsoconjunctival flaps (p ≤ .02). CONCLUSIONS: All patients achieved a good-excellent functional result and 87.1% a good-excellent cosmetic result. The semicircular flap was effective for repairing medium sized wounds that could not be closed primarily, creating a continuous lash line, although with a higher incidence of lateral canthal deformities. The sliding tarsal flap was effective for shallow wounds of varying widths. The single-staged dermal matrix graft provided similar results as the tarsoconjunctival flap. Subsequent interventions were more frequent after the tarsoconjunctival flap than other methods.
Assuntos
Blefaroplastia , Pestanas , Neoplasias Palpebrais , Procedimentos de Cirurgia Plástica , Humanos , Estudos Retrospectivos , Retalhos Cirúrgicos/cirurgia , Blefaroplastia/métodos , Neoplasias Palpebrais/cirurgiaRESUMO
PURPOSE: Demodex folliculorum and Demodex brevis are common ectoparasites on skin that also can lead to blepharitis and chalazion. The aim of our study is to determine the prevalence of Demodex spp. in eyelashes of patients diagnosed with chronic blepharitis and chalazion. METHODS: This study included 330 patients diagnosed with chronic blepharitis, 70 patients diagnosed with chalazion and 130 volunteers without any ocular problems. Patient eyelashes were examined under a light microscope at magnifications of × 40, × 100 and × 400. Demodex spp. were determined. RESULTS: Parasite prevalence was significantly higher in blepharitis (75.5%) and chalazion groups (70%) compared to the control group (16.2%) (p < 0.001). The prevalence of D. folliculorum in the blepharitis group and D. brevis in the chalazion group was found to be significantly higher compared to other groups (p < 0.05). The average number of mites per eyelash was found to be significantly higher in patients with Demodex positive blepharitis (p = 0.001) and in chalazion patients (p = 0.047) than in the control group. It has been determined that mite positivity increases with age in blepharitis and control groups (p < 0.05). In the group with blepharitis, it was found that mite positivity was significant in the presence of symptoms (p = 0.0001) and Demodex positivity decreased as the education level of individuals increased (p = 0.039). CONCLUSION: The results of the study show that Demodex spp infestations should be considered in chronic blepharitis and chalazion.
Assuntos
Ascomicetos , Blefarite , Calázio , Infecções Oculares Parasitárias , Pestanas , Infestações por Ácaros , Ácaros , Animais , Humanos , Calázio/epidemiologia , Infestações por Ácaros/epidemiologia , Infestações por Ácaros/parasitologia , Prevalência , Blefarite/epidemiologia , Blefarite/parasitologia , Pestanas/parasitologia , Doença Crônica , Infecções Oculares Parasitárias/diagnóstico , Infecções Oculares Parasitárias/epidemiologiaRESUMO
FREM2 is a member of the FREM2-FRAS1-FREM1 protein complex which contributes to epithelial-mesenchymal coupling. We report a Thai woman with cryptophthalmos, dental anomalies, and oral vestibule defect. A compound heterozygous mutation (c.6499C>T; p.Arg2167Trp and c.641_642del; p.Glu214GlyfsTer135) in the FREM2 gene was identified. The frameshift variant p.Glu214GlyfsTer135 is de novo and novel. It is predicted to result in the loss of most of the functional domains. The p.Arg2167Trp mutation was predicted to disrupt both Ca2+ binding and conformational change. The Arg2167Trp mutant protein has been shown to cause partial loss of function, decrease its interaction with FREM1 and result in impaired function of the FRAS1-FREM2-FREM1 complex. Frem2 was shown to be expressed in the developing tooth and vestibular lamina. It is hypothesized that these mutations resulted in aberration of the FRAS1-FREM2-FREM1 protein complex, resulting in loss of nephronectin, basement membrane disruption, and abnormal epithelial-mesenchymal interactions leading to dental and oral vestibule malformations.
Assuntos
Proteínas da Matriz Extracelular/genética , Anormalidades do Olho/genética , Pestanas/anormalidades , Pálpebras/anormalidades , Anormalidades da Boca/genética , Mutação , Anormalidades Dentárias/genética , Adulto , Feminino , Humanos , Sequenciamento do Exoma/métodosRESUMO
Lymphedema-dissociated syndrome (LDS), of which the pathogenesis is not fully understood, afflicts many patients. In this study, we investigated the effect of FOXC2 gene loss-of-function on the development of LDS disease. Two Han Chinese families with LDS were recruited in this study, pathogenic mutations were identified by Sanger sequencing. Reverse-transcription PCR, subcellular localization, dual fluorescein enzymes, and other in vitro experiments were used to study the functional effects of eight FOXC2 mutations. Two pathogenic FOXC2 duplication mutations (c.930_936dup and c.931-937dup) were identified in the two families. Both mutations caused uneven distribution in the nucleus and a chromatin contraction phenotype, weakening the DNA binding activity and transcription activity. We then performed functional analysis on six additional mutations in different domains of FOXC2 that were reported to cause LDS. We found mutations located in the forkhead domain and central region dramatically reduced the transactivation ability, while mutations in activation domain-2 enhanced this ability. All 8 mutations down-regulated the transcription of ANGPT2 and affected the activity of the ERK-RAS pathway, which may cause abnormal formation of lymphatic vessels. Our findings also showed that all 8 mutations decreased the ability of interaction between FOXC2 and the Wnt4 promoter, suggesting mutations in FOXC2 may also affect the Wnt4-Frizzled-RYK signaling pathway, leading the abnormal differentiation of the meibomian glands into hair follicle cells during the embryonic period and causing distichiasis. This study expanded and revealed the potential pathogenesis mechanism.
Assuntos
Fatores de Transcrição Forkhead/genética , Linfedema , Pestanas/anormalidades , Humanos , Linfedema/genética , Mutação , VirulênciaRESUMO
Interstitial deletions of 16q24.1-q24.2 are associated with alveolar capillary dysplasia, congenital renal malformations, neurodevelopmental disorders, and congenital abnormalities. Lymphedema-Distichiasis syndrome (LDS; OMIM # 153400) is a dominant condition caused by heterozygous pathogenic variants in FOXC2. Usually, lymphedema and distichiasis occur in puberty or later on, and affected individuals typically achieve normal developmental milestones. Here, we describe a boy with congenital lymphedema, distichiasis, bilateral hydronephrosis, and global developmental delay, with a de novo microdeletion of 894 kb at 16q24.1-q24.2. This report extends the phenotype of both 16q24.1-q24.2 microdeletion syndrome and of LDS. Interestingly, the deletion involves only the 3'-UTR part of FOXC2.
Assuntos
Pestanas , Linfedema , Transtornos do Neurodesenvolvimento , Pestanas/anormalidades , Fatores de Transcrição Forkhead/genética , Humanos , Linfedema/complicações , Linfedema/diagnóstico , Linfedema/genética , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/genéticaRESUMO
Bimatoprost is a synthetic prostaglandin structural analogue used among other indications to increase eyelash growth. The aim of this prospective, open-label study was to evaluate the safety and efficacy of topical bimatoprost in the treatment of eyelash loss in alopecia areata totalis (AT) and universalis (AU). Study subjects applied ophthalmic bimatoprost (0.3 mg/ml) solution to the eyelid margins once nightly for at least 12 weeks (mean treatment period was 30.6 weeks). A total of 16 out of 17 subjects completed the study. Only the subjects with eyelashes present at baseline experienced an increase in eyelash length and thickness. No new eyelash regrowth was induced. In patients with AT and AU topical bimatoprost affected existing eyelashes, but failed to induce regrowth of new eyelashes.
Assuntos
Alopecia em Áreas , Pestanas , Alopecia/diagnóstico , Alopecia/tratamento farmacológico , Bimatoprost/efeitos adversos , Humanos , Estudos ProspectivosRESUMO
Amyloidosis is characterized by systemic or local deposition of amyloid fibrils outside organs and tissues. Amyloidosis is rarely seen on cornea. A 30-year-old woman patient had had trichiasis in both eyes for 8 years. Trichiasis was observed, which touched the cornea. Slit lamp microscopy showed white gelatinous droplet-like eminences and trichiasis in the lower cornea of the right eye. Optical coherence tomography showed that the lesion involved most of the cornea. Hematoxylin and eosin staining showed that most of the stroma stained red, with scattered inflammatory cells. High expression of lactoferrin was detected by mass spectrometry, and the case was diagnosed as secondary corneal lactoferrin amyloidosis in the right eye.
Assuntos
Amiloidose , Distrofias Hereditárias da Córnea , Pestanas , Triquíase , Adulto , Amiloidose/complicações , Amiloidose/diagnóstico por imagem , Amiloidose Familiar , Biópsia/efeitos adversos , Córnea/metabolismo , Córnea/patologia , Distrofias Hereditárias da Córnea/complicações , Pestanas/metabolismo , Pestanas/patologia , Feminino , Humanos , Lactoferrina , Espectrometria de Massas , Triquíase/complicaçõesRESUMO
ABSTRACT: Demodex is an important pathogen causing eyelid and eyelash diseases. This article describes a quick, efficient, cost-effective office-based imaging of demodex with the help of an intraocular lens (IOL) and smartphone-aided innovated tool. Eyelid photography of a 56-year-old man with suspected demodex infestation was obtained using a 20-diopter (D) IOL over the smartphone camera called as Anterior Segment Photography using IOL (ASPI). A video or photograph of the epilated eyelash was taken using four 30-D IOLs attached to the smartphone camera to form an optical system called IOLSCOPE, which clearly detected the demodex parasite. The importance of ASPI and IOLSCOPE for the rapid office-based diagnosis of demodex pathogen in peripheral health centers devoid of slitlamp and microscopes has been emphasized here.