Presentation
[…] filiforme adnatum wherein single or multiple strands of epithelial tissue are present between the upper and lower eyelids). [tnoajosr.com]
Abstract A 6-month-old leopard gecko with unilateral partially fused eyelids since birth was presented for examination. A diagnosis of congenital ankyloblepharon was made and surgical correction was performed successfully. [unboundmedicine.com]
The defect can present either uni- or bilateral. Early surgical separation of the eyelids is important (and can often be done under topical anesthesia) to avoid occlusion amblyopia. [accessanesthesiology.mhmedical.com]
We report a case of a newborn presenting with isolated AFA at birth, treated on the seventh day of life. [clinmedjournals.org]
Entire Body System
- Virilization
The most common form, the simple virilizing form, is due to a 21-hydroxylase deficiency. [kmle.co.kr]
Gastrointestinal
- Recurrent Abdominal Pain
Browse recently published Learning/CME Learning/CME View all learning/CME CME Conservative Oxygen Therapy during Mechanical Ventilation in the ICU Case 8-2020: An 89-Year-Old Man with Recurrent Abdominal Pain and Bloody Stools Complications of Unsafe [nejm.org]
Skin
- Hypoplastic Nails
Curly hair, ankyloblepharon and nail dysplasia (CHAND) syndrome: An autosomal recessive disorder characterised by ankyloblepharon, ectodermal dysplasia, curly hair and hypoplastic nails, with absence of cleft lip or palate. [eyewiki.aao.org]
[…] problems such as persistent ductus arteriosus and ventricular septal defect.[9] An unusual case of a multiple malformation syndrome with AFA, with cleft lip and palate, bilateral popliteal pterygia, bilateral complete syndactyly of 2nd and 3rd toes and hypoplastic [jcor.in]
- Sparse to No Body Hair
Dermatologic findings include hyperpigmentation, scalp erosions, sparse scalp, and body hair with patchy alopecia, palmoplantar hyperkeratosis, and dystrophic nails. [accessanesthesiology.mhmedical.com]
Workup
Serum
- Erythroblast
Type II is the most common of the 3 types of congenital dyserythropoietic anaemia; it is often referred to as hempas, based on the hereditary erythroblast multinuclearity with positive acidified serum test. (12 Dec 1998) anaemia, haemolytic, congenital [kmle.co.kr]
Treatment
Treatment is always surgical and the procedure to be performed is simple, even when palpebral reconstruction is required. Key words: ankyloblepharon, congenital ocular anomalies, palpebral anomalies. [medigraphic.com]
Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]
Considering their young age, the children cooperated well during treatments and did not appear to experience treatment-related pain. [o-wm.com]
Van der Woude Syndrome and lower lip pits treatment. Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons, 2008;66(3):589–592. [symbiosisonlinepublishing.com]
Prognosis
Simultaneous medial canthoplasty and blepharoptosis correction in select patients Prognosis With surgical correction, improved cosmesis Visual prognosis is guarded because of amblyopia development. [entokey.com]
Prognosis The results of ankyloblepharon surgery can be generally correlated with the extent of the ankyloblepharon. In congenital ankyloblepharon, visual prognosis is usually good if timely intervention is performed. [eyewiki.aao.org]
[…] body diagrams and clinical photographs of each syndrome Bulleted text summarizing the patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, laboratory findings, management, and prognosis [books.google.es]
Etiology
The exact etiology of this condition is unknown. [eyewiki.aao.org]
Epidemiology
Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]
Lower lip sinuses: Epidemiology, microforms and transverse sulci. Br J Plast Surg 1981;34:26-30. 7. Coccia CT, Bixler D. Cleft palate and congenital fistulas of the lower lip: Report of a familial occurrence. [ijdvl.com]
| 2008 351 An Epidemiologic Study of Perianal Dermatitis Among Children in Egypt Mostafa, Wedad Z. / Arnaout, Heba H. / El‐Lawindi, Mona I. / El‐Abidin, Yasmeen M. [tib.eu]
Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment. Eur J Orthod 2004;26:17-24. 4. Oberoi S, Vargervik K. Hypoplasia and hypodontia in Van der Woude syndrome. [contempclindent.org]
Epidemiology: XLHED has an estimated incidence of 1/10,000. It is a genetically inherited disease. [cancertherapyadvisor.com]
Pathophysiology
Pathophysiology Normal embryogenesis of equine eye results in a fully developed globe and adnexa, with the eyelids separated at birth. The epithelial connection between the lids breaks down normally in late pregnancy. [vetstream.com]
Pathophysiology Ectodermal dysplasia results from the abnormal morphogenesis of cutaneous and/or oral embryonal ectoderm (ie, hair, nails, teeth, eccrine glands). In some forms, mesodermal abnormalities are also present. [emedicine.medscape.com]
Pathophysiology Mutated keratin filaments aggregate, resulting in weakened filament structures and consequent cellular fragility. [dermatologyadvisor.com]
EEC syndrome is caused by point mutations in the DNA binding domain of p63 in 95% of cases Pathophysiology p63 is a transcription factor expressed as six isoforms. [clinicaladvisor.com]
Prevention
Edges of conjunctiva and eyelid margin are apposed with sutures to prevent readhesion of skin. Prognosis Excellent prognosis with treatment Prevent readhesion of skin Lopardo T, Loiacono N, Marinari B, et al. [entokey.com]
Preventive measures are directed to prevention of emergence only of the acquired ankiloblefaron. [medicine-for-you.com]
Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [medlineplus.gov]
Early diagnosis and management of congenital ankyloblepharon prevent stimulus deprivation amblyopia, and the child should be screened for associated systemic abnormalities. [tnoajosr.com]
[…] a rare disease Isolated ankyloblepharon filiforme adnatum Disease definition Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing [orpha.net]