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Congenital Ankyloblepharon


Presentation

  • 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]
  • Article in English MEDLINE ID: mdl-25053155 A 6-month-old leopard gecko with unilateral partially fused eyelids since birth was presented for examination.[search.bvsalud.org]
  • Synonym: generalised epidermolytic hyperkeratosis, ichthyismus hystrix, ichthyosis hystrix. (05 Mar 2000) congenital Existing at and usually before, birth, referring to conditions that are present at birth, regardless of their causation. Origin: L.[kmle.co.kr]
  • It may be unilateral or bilateral and can present with a single system or multiple systems involvement.[ijps.org]
  • A 5-year-old boy with history of alkali burns 1 year previously presented with gradually progressive painless swelling involving the left upper eyelid for 1 month.[healio.com]
Virilization
  • The most common form, the simple virilizing form, is due to a 21-hydroxylase deficiency.[kmle.co.kr]
Hematochezia
  • Haug Browse recently published Learning/CME Learning/CME View all learning/CME CME Partial Oral versus Intravenous Antibiotic Treatment of Endocarditis Case 4-2019: An 18-Year-Old Man with Abdominal Pain and Hematochezia Bridging the Gap Challenge Yourself[nejm.org]
Abdominal Pain
  • Haug Browse recently published Learning/CME Learning/CME View all learning/CME CME Partial Oral versus Intravenous Antibiotic Treatment of Endocarditis Case 4-2019: An 18-Year-Old Man with Abdominal Pain and Hematochezia Bridging the Gap Challenge Yourself[nejm.org]
Jaundice
  • Symptoms include an infant with an enlarged liver and spleen, swelling, jaundice and anaemia. (27 Sep 1997) congenital antithrombin III deficiency Antithrombin III is a protein which stimulates the removal of blood clots in the bloodstream.[kmle.co.kr]
Eye Irritation
  • , irritation, photophobia and recurrent infections Hearing loss Urogenital problems Mammary gland/nipple changes (hypoplasia or supernummerary Subjective decreased sweating Characteristic findings on physical examination AEC syndrome Facial features with[clinicaladvisor.com]
Hydrops Fetalis
  • Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care[books.google.com]

Workup

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

  • 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]
  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.com]
  • Master the latest advances in ophthalmology: radical changes in the management of macular disease, including the widespread introduction of VEGF inhibitor therapy; recent developments in the investigation and treatment of retinal vascular disease; new[books.google.com]
  • A prognostic factors analysis and results of surgical treatment - Urist MM, Balch CM, Soong S.-J. ‏ الصفحة 195 - Breslow. A.: Tumor thickness, level of invasion, and node dissection in stage I cutaneous melanoma. Ann. Surg. ‏[books.google.com]
  • […] photographs of normal and abnormal skin conditions including images of rare conditions, this easily accessible resource is essential for pediatricians, neonatologists, and dermatologists as well as other healthcare professionals involved in the diagnosis and treatment[books.google.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 : good. Pathogenesis Predisposing factors General Premature birth Reproduction: prematurity / dysmaturity .[vetstream.com]
  • […] 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]
  • They can occur at in the orbit and this changes the prognosis. Eyebrow tail cyst: epidermoid cysts appear more frequently in the tail of the eyebrow. They arise from embryonic residues included in the bone fusion zones.[angelarteaga.es]
  • The overall prognosis of PPS is good. Growth and intelligence are usually normal but success of surgery done for popliteal web depends on the severity of the web. Cryptorchidism may lead to infertility.[casereports.in]

Etiology

  • The etiology of this defect has not been identified yet.[sjh.umsha.ac.ir]
  • Etiology Autosomal dominant inheritance Associated with FOXL2 mutations Symptoms Present congenitally Severe ptosis may cause ametropic amblyopia with blurred vision.[entokey.com]
  • A possible importance of hereditary factor and malnutrition is being stressed in its etiology and pathogenesis. References 1. Duke-Elder, S., (1952), "Test Book of Ophthalmology", Vol. V. Kimpton London, p. 4665. 2.[ijo.in]
  • […] is not known, many theories have been proposed to explain the etiology of intraoral synechiae such as genetic, teratogenic, or mechanical insult during critical stage of embryonal development of alveolar ridges, tongue, and palatal shelves. [6] While[jclpca.org]
  • Other associations may include hydrocephalus, menigocoel, imperforate anus, bilateral syndactyly, infantile glaucoma and cardiac problems such as patent ductusarteriosus and ventricular septal defects. [3 ] The etiology of this abnormality is unknown[djo.org.in]

Epidemiology

  • The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations.[books.google.es]
  • 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]
  • Poiares / Bairos, V. 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]
  • 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]
  • 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]
Sex distribution
Age distribution

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 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

  • Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive[jamanetwork.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]
  • Preventive measures are directed to prevention of emergence only of the acquired ankiloblefaron.[medicine-for-you.com]
  • 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]
  • […] 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]

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