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Tarsal Kink Syndrome

Presentation

Dailey et al10 presented a case of congenital upper eyelid entropion associated with a congenital heart defect. [entokey.com]

Clinical Presentation Tarsal kink presents as a unilateral or bilateral upper eyelid entropion at birth. It is usually associated with marked blepharospasm and an absent lid crease. Corneal ulceration is present in roughly half of patients. [link.springer.com]

Case Presentation An otherwise healthy newborn was presented after delivery with forceps with marked unilateral purulent secretion and blepharospasm. [thieme-connect.com]

Case Presentation We present the case of a male two-month old patient admitted for corneal ulceration on their left eye. [mdpi.com]

The surgical repair, by means of a simple resection of orbicularis and skin, is presented as a simple technique to correct the congenital anomaly of tarsal kink. [semanticscholar.org]

Entire Body System

  • Developmental Delay

    Shimojima et al. (2009) showed that RALGAPA1 was highly expressed in zebrafish brain, and knockdown of which resulted in brain developmental delay. [proquest.com]

    delay, cardiac abnormalities, central nervous system defects and Trisomy 13 (Patau syndrome).[9][10] The incidence of associated developmental abnormalities in children with congenital primary upper lid entropion is such that all children with upper [eyewiki.aao.org]

  • Atrial Septal Defect

    septal defect Temporary eyelid margin suture Demirel et al., 2012 [11] 11 3 months Female Right Congenital entropion Isolated Modified temporary eyelid margin suture McElevanney et al., 1994 [12] 12 7 days Female Bilateral Corneal ulcer Isolated Unfold [ncbi.nlm.nih.gov]

  • Infertility

    There are two types of this syndrome: BPES Type I is associated with infertility, while BPES Type II is not. The gene involved in BPES Type I is FOXL2. [jaypeedigital.com]

Eyes

  • Blepharospasm

    Blepharospasm Involuntary closure of eyelid, Eyelid twitching, Eyelid spasm, Spontaneous closure of eyelid [more] A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids. [rarediseases.oscar.ncsu.edu]

    Reflex blepharospasm is not uncommon as a result of the corneal irritation. On eversion of the upper eyelid a kink is seen on the tarsus as a concavity just beneath the conjunctiva. [mhealthknowledge.org]

    It is characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelids and eyelashes if not corrected by surgery. [eyewiki.aao.org]

  • Corneal Opacity

    Abstract PURPOSE Tarsal kink is a rare congenital eyelid anomaly that may lead to corneal opacity and amblyopia secondary to severe entropion. The authors aimed to describe a modified temporary lid margin suture method for tarsal kink correction. [unboundmedicine.com]

    Congenital tarsal kink should be included in the differential diagnosis of congenital corneal opacity and ulceration. Early recognition and surgical intervention reduces corneal scarring. 7 Citations References SHOWING 1-3 OF 3 REFERENCES [semanticscholar.org]

    Mild kink have obtuse tarsal bent while severe kink have acute angle tarsal bent. · Absent upper eyelid crease · Corneal opacity or infiltrate – the majority of the reported cases had corneal ulcers, which typically were sterile. [eyewiki.aao.org]

  • Photophobia

    However, microbiology work-up have revealed Corynebacterium species and Pseudomonas aeruginosa in few cases. [8] · Secondary blepharospasm · Photophobia · Microphthalmos, Distichiasis has been reported to be associated.[8][9] Systemic association Majority [eyewiki.aao.org]

    Physical examination revealed the presence of a horizontal tarsal kink determining the internal rotation of the upper eyelid margin, the cilia coming into contact with the ocular globe and causing secondary blepharospasm, hyperlacrimation, photophobia [ncbi.nlm.nih.gov]

  • Corneal Irritation

    Reflex blepharospasm is not uncommon as a result of the corneal irritation. On eversion of the upper eyelid a kink is seen on the tarsus as a concavity just beneath the conjunctiva. [mhealthknowledge.org]

    irritation and tearing. congenital tarsal kink right upper eyelid tarsal kink Child is born with the upper lid bent backwards often with a 180 degree fold in the upper tarsal plate Corneal exposure and rubbing by the bent edge can lead to in ulceration [patelplasticsurgery.com]

Musculoskeletal

  • Macrocephaly

    […] not associated with systemic abnormalities.14 However, Batur et al15 reported a case of bilateral tarsal kink in an infant with Wiedemann-Rautenstrauch syndrome, an extremely rare, autosomal recessive disorder characterized by progeroid appearance, macrocephaly [entokey.com]

Face, Head & Neck

  • Short Neck

    Frontal view showing regional abdominal fat distribution (BMI > 99 centile), short neck, and facial features (A); Characteristic hands with stubby fingers (B); Brain magnetic resonance imaging (MRI) sagittal T2 image showing corpus callosum hypoplasia [proquest.com]

    neck and atrial septal defect Temporary eyelid margin suture Demirel et al., 2012 [11] 11 3 months Female Right Congenital entropion Isolated Modified temporary eyelid margin suture McElevanney et al., 1994 [12] 12 7 days Female Bilateral Corneal ulcer [ncbi.nlm.nih.gov]

    Applying pressure with the finger on the upper eyelid caused the eversion of the eyelid, but only for a short period, approximately 30 s, after which the entropion set back. [mdpi.com]

Psychiatrical

  • Suggestibility

    Sires et al. have suggested an acute eyelid trauma during childbirth due to right occiput anterior presentation [8]. [ncbi.nlm.nih.gov]

    The mild neurodevelopmental phenotype exhibited in mouse model (Nestin‐Cre; Snx6fl/fl mice) with SNX6FL haploinsufficiency suggests functional redundancy among the SNX family members (Niu et al., 2017). [proquest.com]

Workup

Microbiology

  • Pseudomonas

    However, microbiology work-up have revealed Corynebacterium species and Pseudomonas aeruginosa in few cases. [8] · Secondary blepharospasm · Photophobia · Microphthalmos, Distichiasis has been reported to be associated.[8][9] Systemic association Majority [eyewiki.aao.org]

Treatment

TREATMENT Prompt recognition and treatment of this condition is essential to prevent significant corneal injury and amblyopia. Treatment depends upon the severity of the tarsal deformity. [mhealthknowledge.org]

The therapeutic contact lens was removed, and the recommendation was made to continue the topical treatment with emulsified vitamin A, artificial tears with hyaluronic acid and light anti-inflammatory steroid treatment to recover corneal transparency. [ncbi.nlm.nih.gov]

A Simple New Technique for Treatment of Tarsal Kink Syndrome. Ophthalmic Plast Reconstr Surg. 2017 May/Jun;33(3S Suppl 1):S77-S79. ↑ Pushker N, Meel R, Kaushal S, et al. [eyewiki.aao.org]

Prognosis

[…] gene involved in the deleted region for which this data is known: NPAS3(NG_013036.2), CFL2(NG_012740.1), PSMA6(NG_011703.2), NFKBIA(NG_007571.1), RALGAPA1(NG_051667.1) In particular, when the deletion includes the genes FOXG1, NKX2‐1, and PAX9, the prognosis [proquest.com]

Mechanical stretching of tarsal plate over a strabismus hook followed by a temporary lid margin sutures passed through the gray line of the upper and lower eyelids[16] Prognosis Visual outcome in patients with tarsal kink syndrome is favourable except [eyewiki.aao.org]

Etiology

Etiology and Pathogenesis The etiology of congenital tarsal kink is unknown. [entokey.com]

Etiology The etiology of tarsal kink is unclear but possibilities include a primary tarsal defect, an aponeurotic defect, overacting orbicularis fibers, an exogenous mechanical force in utero, or an eyelid disjunction defect in utero. [link.springer.com]

Re-examining the tarsal kink syndrome: considerations of its etiology and treatment. Ophthalmic Surgery, Lasers and Imaging Retina. 1985 Jul 1;16(7):437-40. ↑ 7.0 7.1 Sires BS. [eyewiki.aao.org]

Epidemiology

Ectropion: Background, Pathophysiology, Epidemiology [Internet]. Emedicine.medscape.com. 2018 [cited 24 June 2020]. Available from: https://emedicine.medscape.com/article/1212398-overview [eophtha.com]

Pathophysiology

Ectropion: Background, Pathophysiology, Epidemiology [Internet]. Emedicine.medscape.com. 2018 [cited 24 June 2020]. Available from: https://emedicine.medscape.com/article/1212398-overview [eophtha.com]

Prevention

TREATMENT Prompt recognition and treatment of this condition is essential to prevent significant corneal injury and amblyopia. Treatment depends upon the severity of the tarsal deformity. [mhealthknowledge.org]

[…] lamellar dissociation as follows transverse sutures prevent upward movement of pre-septal muscle everting sutures tighten the lower eyelid retractors and evert the eyelid. [eophtha.com]

Surgery is usually required to prevent damage to the cornea. Surgery The surgical goal involves weakening the tarsal kink with margin rotation and eyelid crease formation. [eyewiki.aao.org]

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