At present, more than 150 types of ectodermal dysplasias are known. [omicsonline.org]

Anhidrotic ectodermal dysplasia: an ENT presentation in infancy. J Laryngol Otol 1988;102(5):458-9. 11. Martini A, Magnan G, Peserico A. Ozena as presenting symptom of a rare and severe genetic disease: hypohidrotic ectodermal dysplasia. [arquivosdeorl.org.br]

A review of seventeen ectodermal dysplasias is presented for differential diagnosis. [onlinelibrary.wiley.com]

However, congenital absence of primary teeth is relatively rare. [10] But in the present case, both the patients presented with history of non-existence of primary teeth. Teeth that were present had abnormal crown form. [jiaomr.in]

History of present illness revealed that teeth were congenitally missing. There was a history of several episodes of high fever during infancy. [contempclindent.org]

• No Pubic Hair

  Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. [malacards.org]

  After puberty, male patterns of hair growth (e.g., moustache and beard) can be normal, while in other cases, facial and pubic hair growth may be sparse. In affected males and females, pubic and underarm (axillary) hair is typically scant. [rarediseases.org]

  By puberty, the hair problems may worsen until all the hair on the scalp is lost (total alopecia). The eyelashes, eyebrows, underarm (axillary) hair, and pubic hair are also sparse or absent. [ghr.nlm.nih.gov]

  Sparse fine vellus hair was noted over the eyebrow with generalized hypotrichosis. Short and sparse eyelashes were also noted. Axillary and pubic hair was not developed. [ijpd.in]

• Purpura

  Henoch-Schönlein purpura can also have a clinical appearance similar to acute hemorrhagic edema of childhood, but the latter occurs in children between the ages of 4 months and 2 years, has no systemic features, and resolves in 1-3 weeks without sequelae [books.google.com]

• Cranial Nerve Involvement

  الصفحة 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‏ [books.google.com]

This treatment is best handled by a team of trained experts who specialize in determining the proper dental treatment sequence for patients with Ectodermal Dysplasias. [sddis.com]

“Many families go through years of dental treatments without hearing about ED as a possible diagnosis, or enamel and decay issues being blamed on poor diet and dental hygiene.” [jcda.ca]

Ongoing controversies regarding etiology, diagnosis, treatment There are no ongoing controversies, but there is ongoing research regarding a potential disease-modifying treatment for XLHED. [clinicaladvisor.com]

Treatment plan was discussed with patient and his father. Informed consent was obtained for the agreed treatment. The child was rehabilitated with removable maxillary and mandibular complete dentures. [amhsr.org]

Early prosthetic treatment of patients with ectodermal dysplasia: a clinical report. J Prosthet Dent 2005 May;93(5):419–24. [ CrossRef ] [ Pubmed ] Priolo M. [ijcasereportsandimages.com]

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]

Outlook Prognosis for people with ED is generally very good. They have a normal life expectancy, and most disorders do not lead to developmental delays. Jacob’s resilience to his condition never ceases to impress his mother. [jcda.ca]

ED per se has not only a poor prognosis, but it also needs constant care for temperature and other problems associated with this condition. Genetic counseling is recommended for families who have family history of ED. [digitmedicine.com]

Prognosis: Initially guarded based on severity of complications such a immunodeficiency. Normal life span can be achieved. [lymphedemapeople.com]

Implantology concluded that implants should be placed after maximum jaw growth has occurred (15 years of age).[ 13 ] Cronin, et al .[ 11 ] concluded that implants placed after age 15 years for girls and 18 years for boys provided the most predictable prognosis [amhsr.org]

Genetic studies regarding the etiology of EDA revealed that mutations in the ectodysplasin-A and ectodysplasin-A receptor genes are responsible for X-linked and autosomal hypohidrotic ectodermal dysplasia [5]. [ijcasereportsandimages.com]

Genetic studies regarding the etiology of Ectodermal Dysplasia reveal that mutations in these genes are responsible for X-linked and autosomal hypohidrotic Ectodermal dysplasia. [pubs.sciepub.com]

Ongoing controversies regarding etiology, diagnosis, treatment There are no ongoing controversies, but there is ongoing research regarding a potential disease-modifying treatment for XLHED. [clinicaladvisor.com]

Etiology of congenital glaucoma: genetic and extragenetic factors. Ophthalmic Paediatr Genet 1985;6(1–2):265–270. 14. Pickering TD, Wong PC, Dickens CJ, Hoskins HD Jr. The developmental glaucomas. In: Duane's Clinical Ophthalmology, Vol. 5. [iedn.org]

The etiology is unknown, but consanguinity of parents points to an autosomal recessive inheritance. Keywords: Alopecia, Ectodermal dysplasia, Hyperkeratosis, Onychodysplasia, Sensorineural deafness How to cite this article: Akhyani M, Kiavash K. [ijdvl.com]

Relevant External Links for HOXC13 Genetic Association Database (GAD) HOXC13 Human Genome Epidemiology (HuGE) Navigator HOXC13 Atlas of Genetics and Cytogenetics in Oncology and Haematology: HOXC13 No data available for Genatlas for HOXC13 Gene Loss-of-function [genecards.org]

Epidemiology: XLHED has an estimated incidence of 1/10,000. It is a genetically inherited disease. [clinicaladvisor.com]

OUTLINE EPIDEMIOLOGY CHARACTERIZATION SYNONYMS Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Christ-Siemens-Touraine syndrome INCIDENCE/ PREVALENCE Rare AGE Congenital SEX X-linked, usually males Autosomal dominant-both DISEASE ASSOCIATIONS [thedoctorsdoctor.com]

[…] which involves ectodysplasin (EDA), the EDR receptor (EDAR), the EDAR-associated death domain (EDARADD); the WNT signaling pathway; the NF-kB signally pathway, which involves the NF-kB essential modulator (NEMO); and the transcription factor p63. [14] Epidemiology [emedicine.medscape.com]

Various classifications have been proposed based on clinical features, mode of inheritance, gene mutations and pathophysiology, but pure EDA manifests with defects in ectodermal structures alone. [ijcasereportsandimages.com]

Pathophysiology Ectodermal dysplasia results from the abnormal morphogenesis of cutaneous or oral embryonal ectoderm (ie, hair, nails, teeth, eccrine glands). In some forms, mesodermal abnormalities are also present. [emedicine.medscape.com]

Pathophysiology: Mutations in the causative gene are responsible for the manifestations of the disorder. Mutations in the ectodysplasin signaling pathway are seen in those affected with XLHED. [clinicaladvisor.com]

This is due to the fact that various preventive measures are required during administration of anesthesia in people having poor temperature regulation. 3) Use of artificial tears should be encouraged to prevent drying of the eye. 4) Dental replacements [primehealthchannel.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 [icdlist.com]

Parents were counseled regarding the disease and preventive care needed. [digitmedicine.com]

At this time, the disease cannot be prevented in individuals with a disease-causing mutation. What is the evidence? Bluschke, G, Nusken, KD, Schneider, H. [clinicaladvisor.com]

Although you can’t prevent or cure it, doctors can treat it. Causes Each of your cells has two copies of every gene. One comes from your mother and one from your father. AEC is caused by a glitch in one of your genes, the TP63 gene. [webmd.com]