Lymphedema-Distichiasis Syndrome: Report of a Case and Review

Johnson, S. M.

doi:10.1001/archderm.135.3.347

Archives of Dermatology

1999

DOI: 10.1001/archderm.135.3.347

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Lymphedema-Distichiasis Syndrome: Report of a Case and Review

S. M. Johnson¹

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Cited by 14 publications

(7 citation statements)

References 3 publications

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6

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“…2 Lymphedema-distichiasis syndrome is a congenital lymphedema associated with the presence of aberrant eyelashes arising from the meibomian glands. 3,4 It is a clinical diagnosis and can be associated with mutations in the FOXC2 gene; 3 inheritance is autosomal dominant with variable penetrance. 4 Bilateral lymphedema of the legs is usually present in the patient by age 30 years.…”

mentioning

confidence: 99%

“…3,4 It is a clinical diagnosis and can be associated with mutations in the FOXC2 gene; 3 inheritance is autosomal dominant with variable penetrance. 4 Bilateral lymphedema of the legs is usually present in the patient by age 30 years. Distichiasis is usually present at birth and can cause corneal irritation or recurrent conjunctivitis 5 in up to 75% of patients; however, it was asymptomatic in this patient.…”

mentioning

confidence: 99%

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Lymphedema-distichiasis syndrome

2020

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0

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Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.

“…2 Lymphedema-distichiasis syndrome is a congenital lymphedema associated with the presence of aberrant eyelashes arising from the meibomian glands. 3,4 It is a clinical diagnosis and can be associated with mutations in the FOXC2 gene; 3 inheritance is autosomal dominant with variable penetrance. 4 Bilateral lymphedema of the legs is usually present in the patient by age 30 years.…”

mentioning

confidence: 99%

“…3,4 It is a clinical diagnosis and can be associated with mutations in the FOXC2 gene; 3 inheritance is autosomal dominant with variable penetrance. 4 Bilateral lymphedema of the legs is usually present in the patient by age 30 years. Distichiasis is usually present at birth and can cause corneal irritation or recurrent conjunctivitis 5 in up to 75% of patients; however, it was asymptomatic in this patient.…”

mentioning

confidence: 99%

Lymphedema-distichiasis syndrome

2020

Definitions

0

Get access via publisher Add to collection Cite

Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.

“…Its minor phenotypes include ptosis, cleft palate, renal abnormalities, congenital heart disease, vertebral anomalies and SEDAC. 6 , 8–11 LDS was caused by FOXC2 (forkhead box C2) mutations. 6 , 12–16 We previously investigated two pedigrees with familial SEDAC and revealed that both families are related to LDS with variable expression of each phenotype.…”

mentioning

confidence: 99%

A novel FOXC2 mutation in spinal extradural arachnoid cyst

Ogura

¹

,

Fujibayashi

²

,

Iida

³

et al. 2015

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Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.

“…2 Lymphedema-distichiasis syndrome is a congenital lymphedema associated with the presence of aberrant eyelashes arising from the meibomian glands. 3,4 It is a clinical diagnosis and can be associated with mutations in the FOXC2 gene; 3 inheritance is autosomal dominant with variable penetrance. 4 Bilateral lymphedema of the legs is usually present in the patient by age 30 years.…”

mentioning

confidence: 99%

“…3,4 It is a clinical diagnosis and can be associated with mutations in the FOXC2 gene; 3 inheritance is autosomal dominant with variable penetrance. 4 Bilateral lymphedema of the legs is usually present in the patient by age 30 years. Distichiasis is usually present at birth and can cause corneal irritation or recurrent conjunctivitis 5 in up to 75% of patients; however, it was asymptomatic in this patient.…”

mentioning

confidence: 99%

Lymphedema-distichiasis syndrome

McDermott

¹

,

Lahiff

²

2015

CMAJ

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Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.

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