Gene/Protein Disease Symptom Drug Enzyme Compound
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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ten members belonging to two different families were affected by distichiasis of the lids (double row of eyelashes) and lymphedema of the lower extremities. Other less frequent congenital anomalies, such as pterygium colli and ptosis were found in some affected members. The previously reported cases were reviewed. A single pleiotropic gene with a high penetrance and a variable expressivity is responsbile for the different anomalies of this dominantly inherited syndrome.
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PMID:Distichiasis of the lids and lymphedema of the lower extremities: a report of ten cases. 45 19

Two unrelated females with the syndrome of distichiasis-lymphedema are presented. In both families, the autosomal dominant nature of the syndrome was evident, with multiple affected males and females. In the prepubertal period this disease may be confused with Turner or Noonan syndromes. Genetic counseling is important for this is a very crippling disease and an erroneous diagnosis of future sterility may be given to affected females. Ptosis, pterygium colli, lymphedema, cleft palate and a low posterior hairline can confuse the phenotype. A history of corneal irritation, photophobia and a need to self-pluck eyelashes may be the clue to the diagnosis. Close follow-up for associated complications, counseling and support to these families may be our contributions as clinicians in ameliorating the burden this disease brings.
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PMID:Distichiasis-lymphedema syndrome and the Turner phenotype. 181 7

This paper presents the findings in a series of 30 patients with blepharochalasis, including the age of onset, sex, predisposing factors, symptoms and signs, frequency and duration of attacks, and length of the history. There were 16 bilateral and 14 unilateral cases. The condition can be divided into an active (early) and a quiescent (late) stage. The active stage is further subdivided into intumescent (hypertrophic) and atrophic forms. The sequelae included excess thin skin, fat herniation, lacrimal gland prolapse, ptosis, blepharophimosis, pseudoepicanthic fold, proptosis, conjunctival injection and cysts, entropion, and ectorpion. Surgery primarily involved blepharoplasty, ptosis correction, and lateral canthal reattachment alone or in combination. The pathology showed a variable picture of epithelial atrophy, vasculitis, and loss of elastic fibers, which did not greatly help to differentiate blepharochalasis from angioedema, lymphedema, dermatochalasis, tumors and infiltrations, and floppy lid syndromes. Blepharochalasis is probably a localized angioedema. The diagnosis depends on the clinical features of intermittent attacks of localized swelling affecting one or more eyelids associated with thinning of the skin giving either an intumescent (hypertrophic) or atrophic appearance in the active stage of the condition and progressing to atrophic changes in the quiescent (late) stage.
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PMID:Blepharochalasis. A review of 30 cases. 191 19

We evaluated our results of advancement of the frontalis muscle to correct brow ptosis associated with blepharospasm in five patients who had difficulty opening their eyelids as a result of ptosis even after injections of botulinum toxin. The frontalis muscle was retracted inferiorly and connected directly to the skin of the eyebrow. Postoperatively the level of the eyebrow was raised above the superior orbital rim in all cases during the observation period (4 to 15 months). Although the operation did not improve muscle spasms, it successfully shortened the duration of involuntary closure of the eyelid. The only postoperative complication was lymphoedema of the eyelids. Results of postoperative injection of botulinum toxin were satisfactory. Advancement of the frontalis muscle corrects brow ptosis without major complications, and is complementary to injection of botulinum toxin.
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PMID:Advancement of the frontalis muscle for ptosis of the brow associated with essential blepharospasm. 1520 67

Chronic lymphedema is both a risk factor for and consequence of erysipelas (cellulitis). We report a case of a 62-year-old woman with rheumatoid arthritis treated with etanercept and prednisone, who developed chronic periorbital lymphedema 2 months after Group A beta-hemolytic streptococcus infection of the face. She had significant ptosis OS and thickened, hyperpigmented periorbital skin. Biopsies were consistent with chronic lymphedema. Of note, on 6 months follow-up, the patient's appearance was improved though she still had residual ptosis. A period of extended observation may be warranted in these cases.
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PMID:Persistent periorbital and facial lymphedema associated with Group A beta-hemolytic streptococcal infection (erysipelas). 1741 41

Primary lymphoedema is a genetic disorder with numerous phenotypic subgroups. The most common form is the non-syndromic Meige disease, which is primarily of pubertal or later onset, with oedema clinically indistinguishable from that found in the lymphoedema-distichiasis syndrome. There are also other very rare forms of lymphoedema such as yellow nail syndrome and lymphoedema with ptosis, which are clinically similar to Meige disease. The only causative genes so far identified for the non-congenital primary lymphoedemas are the transcription factor FOXC2, where mutations are known to produce lymphoedema with distichiasis, and SOX18 in the very rare condition hypotrichosis-lymphoedema-telangiectasia. This study has examined FOXC2 gene by sequence analysis in 23 affected individuals with Meige disease. A novel truncating mutation (c.563-584del) was identified in one family and found to segregate with the disease in eight affected relatives over three generations. This deletion creates a frameshift that predicts a premature stop at nucleotide 599 and truncating the normal protein by 38%. Although the affected patient initially selected for mutation screening from this family had lymphoedema without distichiasis, all but one of his affected relatives who carried the FOXC2 mutation did have accessory eyelashes originating from their meibomian glands. This is further confirmation that of the primary lymphoedemas, only lymphoedema with distichiasis is caused by FOXC2 mutations. All forms of post-pubertal lymphoedema need careful phenotyping for distichiasis, which may prove difficult to confirm unless several family members are examined, and cannot ever be assumed to be absent from self-report.
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PMID:Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2. 1819 97

Lymphedema-distichiasis syndrome (LD, OMIM 153400) is an autosomal dominant disorder with variable expression. It is caused by mutations in the FOXC2-gene, which codes for a forkhead transcription factor involved in the development of the lymphatic and vascular system. LD is characterized by late childhood or pubertal onset lymphedema of the limbs and distichiasis (double row of eyelashes). While the latter is the most common expression of LD, venous insufficiency occurs in half of the patients. Other associations have been reported, including congenital heart disease, ptosis, cleft lip/palate and spinal extradural cysts. Here we describe a family with classical lymphedema-distichiasis syndrome caused by a duplication in the FOXC2-gene.
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PMID:Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene. 1898 89

Lymphedema-distichiasis syndrome is a rare primary lymphedema inherited as an autosomal dominant disorder. The characteristic features consist of late onset-lymphedema and distichiasis together with other occasionally seen features including varicose vein, cleft palate, ptosis, and congenital heart diseases. FOXC2 is the gene found to be associated with this syndrome. We report here the first Thai patient who has characteristic features of this syndrome and the infrequently described features including ankyloglossia, and Robin sequence which consists of glossoptosis, cleft palate, and micrognathia. Mutation analysis of FOXC2 revealed c. 595-596 insC.
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PMID:c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient. 2018 99

Lymphoedema-distichiasis syndrome, a type of familial lymphoedema praecox, is a rare, primary lymphoedema of pubertal onset associated with distichiasis and other associations including congenital heart disease, ptosis, varicose veins, cleft palate, and spinal extradural cysts. We report a case of familial lymphoedema with associated distichiasis, atrial septal defect, varicose veins, and recurrent abortions in a 29-year-old female.
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PMID:Lymphoedema - distichiasis syndrome with recurrent abortions. 2380 88

Germline mutations in the gene CBL (Casitas B-lineage lymphoma), involved in the RAS-MAPK signaling pathway, have been found as a rare cause of the neuro-cardio-facial-cutaneous syndromes. Somatically acquired homozygous CBL mutations were initially identified in association with myeloproliferative disorders, particularly juvenile myelomonocytic leukemia (JMML). We describe a girl with a Noonan-like phenotype of bilateral ptosis, lymphedema of the lower limbs and moderate intellectual disability, due to a de novo heterozygous mutation in CBL. She developed an ovarian mixed germ cell/teratoma with later occurrence of mature liver, omental, and ovarian teratomas. Copy neutral loss of heterozygosity for the CBL mutation due to acquired segmental uniparental disomy of 11q23 was observed in three teratomas, suggesting a specific association of CBL mutations in germ cell tumor predisposition.
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PMID:Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23. 2445 50


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