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Ectrodactyly-Ectodermal Dysplasia without Clefting Syndrome

EEC Syndrome without Cleft Lip and Palate


Presentation

  • […] to present treatment options.[utsouthwestern.influuent.utsystem.edu]
  • We present a case of a 17-year-old with EEC that had familial presentation as the mother of the patient was also affected. The boy had hand function, which was enough for routine work, however, he wanted improvement in his hands to do fine work.[degruyter.com]
  • There are a few cases of EEC syndrome reported in the literature, with variable presentation. Here, we offer an insight into the diagnosis and management of EEC syndrome through the presentation of a case.[parjournal.net]
  • Management of clinical manifestations associated with ectodermal dysplasia syndrome presents a unique challenge.[jisppd.com]
  • Here, we present a case of EEC syndrome with bilateral congenital lacrimal fistulas, which is by far one of the rare combinations of this syndrome.[ijo.in]
Physician
  • Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and[books.google.com]
  • Catch cancer early with screenings Main Line Health physicians use lowdose computed tomography CT scan identify lung .[instable-monalena.fr]
  • This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.[diseaseinfosearch.org]
  • NORD recommends that affected individuals seek the advice or counsel of their own personal physicians. It is possible that the title of this topic is not the name you selected.[metrohealth.net]
  • To make the diagnosis of EEC, a physician must evaluate which ectodermally derived structures are involved and look for physical features that do not develop from the ectoderm.[encyclopedia.com]
Hyperthermia
  • The pregnancy was normal and there was no history of hyperthermia, hypertension, diabetes or exposure to toxic, traumatic or infectious agents or radiation. Delivery was through Cesarean section, at term.[jmedicalcasereports.biomedcentral.com]
  • The pregnancy was normal and there was no history of hyperthermia, hypertension, diabetes or exp o- sure to toxic, traumatic or infectious agents or radiation. Delivery was through Cesarean section, at term.[text.123doc.org]
  • […] dysplasia, with miniepiphyses Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Multiple metaphyseal dysplasia Multiple non-ossifying fibromatosis Multiple osteochondromas Multiple pterygium syndrome Multiple pterygium-malignant hyperthermia[se-atlas.de]
Nail Abnormality
  • ) Abnormally formed (dystrophic) Eyes Abnormal development of tear glands, tear ducts, and meibomian glands.[nfed.org]
  • N 2162 Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities (ED, absent dermatoglyphic pattern, changes in nails, and simian crease) 129200 AD 163 Pachyonychia congenita, autosomal recessive 260130[vdocuments.net]
Recurrent Respiratory Infections
  • Numerous other less common associations have been described, including choanal atresia, vesicoureteric reflux, conductive hearing loss, and recurrent respiratory infections [1, 4, 6, 7].[thefreelibrary.com]
Regurgitation
  • On local examination, regurgitation of pus on pressure over lacrimal sac area test was positive bilaterally.[ijo.in]
Alopecia
  • We report on a 16-year-old patient with ectrodactyly-ED-clefting (EEC) syndrome, who exhibited a scarring alopecia due to deep folliculitis.[karger.com]
  • […] third metacarpal of some fingers * Absence of second metacarpal of some toes * Rudimentary third metacarpal of some toes * Absence of first metacarpal * Absence of fifth metacarpal * Mild nail dysplasia * Sparse hair * Thin hair * Light colored hair * Alopecia[checkorphan.org]
  • Abstract We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia.[jmg.bmj.com]
  • […] disability syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-intellectual disability syndrome Alpha-thalassemia-X-linked intellectual disability syndrome Alpha-thalassemia-intellectual disability syndrome linked to chromosome[se-atlas.de]
Cradle Cap
  • Cradle Cap 2. Dyskeratosis Congenita 3. Ectrodactyly -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 1 4. Ectrodactyly -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 3 5.[chinapatent.us]
Facial Redness
  • These factors can be problematic with regard to rosacea and facial redness: Copyright Nucleus Medical Media, Inc.[chinapatent.us]

Workup

Normal Skeletal X-Ray
  • Skeletal X-rays (with the exception of the described limb anomalies) were all normal. Her karyotype was 46, XX and a genetic study demonstrated no mutations in any of the coding regions of TP63.[jmedicalcasereports.biomedcentral.com]

Treatment

  • […] 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]
  • […] present the ocular manifestation of 2 cases of ectrodactyly-ectodermal dysplasia-cleft syndrome, a multiple congenital anomaly syndrome caused by a single point mutation of the p63 gene that controls epidermal development and homeostasis and to present treatment[utsouthwestern.influuent.utsystem.edu]
  • TAG: Rosacea Skin Problem Treatment 500 , Rosacea Blepharitis Antibiotics Guide , Dermalex Rosacea Australia Website , What Does Laser Treatment Do For Rosacea 02 , Rosacea Diet Pubmed Group[chinapatent.us]
  • Sep 7th, 2018 - Although existing psoriasis treatments are effective and well tolerated in many patients, there is still a need for new effective targeted treatment options.[allmedx.com]
  • Management typically requires evaluation by various specialists; treatment may vary depending on the signs and symptoms present in the affected individual.[diseaseinfosearch.org]

Prognosis

  • Diagnosis - Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate Cold & Flu: Home Testing: * Home Fever Tests * Home Ear Infection Tests * Home Flu Tests Prognosis - Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate Not supplied.[checkorphan.org]
  • Prognosis Prognosis is good with a near to normal life expectancy. Hypohidrosis (reduction/absence of sweat glands) presents the most life-threatening complications, as it can cause seizures, coma and eventually death when not managed correctly.[orpha.net]
  • Prognosis The prognosis for most individuals with EEC syndrome is very good. Life expectancy ranges from slightly reduced to normal. The most life-threatening complications come from sweating problems.[encyclopedia.com]

Etiology

  • The etiology is heterogeneous: teratogens, chromosomal abnormalities and single gene mutations can be involved [ 7 ]. HPE is estimated to occur in one in 10,000 to 20,000 live births [ 8 ].[jmedicalcasereports.biomedcentral.com]
  • The etiology is heteroge- neous: teratogens, chromosomal abnormalities and sin- gle gene mutations can be involved [7]. HPE is estimated to occur in one in 10,000 to 20,000 live births [8].[text.123doc.org]
  • Etiology The disease is linked to gene mutations p63, deputy the production of a protein essential for both (i) during the embryogenesis of the normal developement of the ectoderm, and (ii) in adult for the maturation and differentiation of the staminal[sindrome-eec.it]
  • Etiology In more than 90% of cases, EEC is due to missense mutations in the sequence of the TP63 gene (3q27) encoding the TP63 transcription factor that is essential for ectoderm and limb development.[orpha.net]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.com]
  • Epidemiology underpinning research in the aetiology of orofacial clefts. Orthod Craniofac Res. 2007;10(3):114–120 9 Bell JC, Raynes-Greenow C, Bower C, Turner RM, Roberts CL, Nassar N.[colombiamedica.univalle.edu.co]
  • Summary Epidemiology The exact prevalence is not known. More than 300 cases have been described in the literature.[orpha.net]
  • Association Between Psoriasis and Sexual and Erectile Dysfunction in Epidemiologic Stud... Preview JAMA Dermatology; Molina-Leyva A, Salvador-Rodriguez L et. al. Oct 12th, 2018 - Sexual health is a major aspect of life.[allmedx.com]
  • The Adams-Oliver syndrome in Spain: the epidemiological aspects. An Esp Pediatr 1996; 45 (1): 57-61. 13. Whitley CB, Gorlin RJ. Adams-Oliver syndrome revisited. Am J Med Genet 1991; 40 (3): 319-26. 14. Barcela SL. Síndrome de Adams-Oliver.[zdoc.site]
Sex distribution
Age distribution

Prevention

  • Prevention - Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate Not supplied.[checkorphan.org]
  • Supported, in part, by Research to Prevent Blindness. The authors have no financial or conflicts of interest to disclose.[journals.lww.com]
  • Artificial tears can be used to prevent damage to the cornea in patients with defective tear production. Saline sprays can also be helpful. Saline irrigation of the nasal mucosa may help to remove purulent debris and prevent infection.[dermnetnz.org]
  • A 4 year 11 months old male reported to the Outpatient Department of Pedodontics and Preventive Dentistry with the chief complaint of multiple decayed teeth.[jisppd.com]
  • According to the patients age and the dental and mouth circumstances, the dentist might devise a program to counteract or prevent alterations.[zdoc.site]

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