Edit concept Question Editor Create issue ticket

Ectodermal Dysplasia Type 5 Hair Nail


Presentation

  • 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]
  • The teeth most often present include front teeth (central incisors), teeth normally located next to the incisors (canines), and/or, in some cases, one or more molars.[rarediseases.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]
  • Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation.[contempclindent.org]
  • At present, more than 150 types of ectodermal dysplasias are known.[omicsonline.org]
Cyanosis
  • الصفحة xvi - The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. Acta Derm Venereol. ‏[books.google.com]
Arthritis
  • Possible considerations may include an acute abdominal emergency, juvenile rheumatoid arthritis, or hemolytic urémie syndrome.[books.google.com]
  • Approximately one quarter of individuals with EDA-ID have disorders involving abnormal inflammation, such as inflammatory bowel disease or rheumatoid arthritis .[ghr.nlm.nih.gov]
  • NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases Acrodermatitis (Medical Encyclopedia) Cryotherapy (Medical Encyclopedia) Cutaneous skin tags (Medical Encyclopedia) Dry skin -- self-care (Medical Encyclopedia) Erythema multiforme[icdlist.com]
Miosis
  • 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]
Dermatitis
  • Clinical evaluation of atopic hand-foot dermatitis. Pediatr Dermatol 2001; 18: 102-6 Mevorah B, Orion E, de Viragh P, et al. Peeling skin syndrome with hair changes. Dermatology 1998; 197: 373-6 Tastan HB, Akar A, Gur AR, Deveci S. ‏[books.google.com]
  • Topical emollients can be prescribed for xerosis or eczematous dermatitis. Artificial tears to prevent damage to the cornea may benefit patients with reduced lacrimation along with saline sprays to protect nasal mucosa.[ijcasereportsandimages.com]
  • Proper skin care and monitoring for signs of infection in patients with chronic scalp dermatitis and erosions should be done.[medindia.net]
  • Additional cutaneous features of HED include scaling or peeling of the skin during the neonatal period, periorbital hyperpigmentation and wrinkles, facial sebaceous hyperplasia, and eczematous dermatitis.[idoj.in]
  • Patients may also have inflammatory dermatitis of the scalp. Diagnosis The diagnosis of EEC syndrome can be complex because of the overlap of symptoms with other ectodermal dysplasia syndromes.[encyclopedia.com]
Keratosis
  • الصفحة 151 - Follicular keratosis and verrucous lesions on the extensor surfaces of the arms and legs and on the buttocks (36%) (Figures 11.5 and 11.6) • Palmopiantar hyperhidrosis (20%) Extracutaneous lesions • Cornea! ‏[books.google.com]
  • […] congenita of the scalp, dental abnormalities, onychodysplasia, dry skin with hypochromic and atrophic (poikiloderma-like) spots with vicarious (marginal) hyperchromia, unusual facies, asymmetrical skull, absent right nipple, irregular areolae, palmar keratosis[onlinelibrary.wiley.com]
  • […] pilaris (Medical Encyclopedia) Lichen planus (Medical Encyclopedia) Milia (Medical Encyclopedia) Sebaceous cyst (Medical Encyclopedia) Seborrheic keratosis (Medical Encyclopedia) Skin lesion removal (Medical Encyclopedia) Skin lesion removal-aftercare[icdlist.com]
  • The clinical examination showed xerosis cutis, keratosis pilaris and the rare anomaly athelia – the congenital absence of both nippels (Figure 1).[omicsonline.org]
  • FOCAL PALMOPLANTAR AND GINGIVAL KERATOSIS Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins. Kolde G, Hennies HC, Bethke G, Reichart PA.[thedoctorsdoctor.com]
Erythema
  • NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases Acrodermatitis (Medical Encyclopedia) Cryotherapy (Medical Encyclopedia) Cutaneous skin tags (Medical Encyclopedia) Dry skin -- self-care (Medical Encyclopedia) Erythema multiforme[icdlist.com]
  • In later childhood, affected children often complain about feeling overheated and can have symptoms of overheating, including irritability, erythema of the ears, headache, dizziness, weakness, fatigue, nausea, vomiting, and muscle cramps.[clinicaladvisor.com]
  • Hypohidrotic ectodermal dysplasia may manifest as scaling and erythema at birth.[emedicine.medscape.com]
Skin Atrophy
  • Focal dermal hypoplasia (also known as Goltz syndrome) is defined by Blaschko linear pigmentary changes with skin atrophy, telangiectasias, and superficial fat herniations as well as papillomas, dysplastic nails, hypotrichosis, hypodontia, eye anomalies[clinicaladvisor.com]
  • atrophy hyperkeratosis (thickened skin) Individuals affected with EEC may have hair abnormalities, including: dry, brittle hair generalized depigmentation of hair fine hair sparse hair, or alopecia areata Teeth abnormalities in affected individuals may[encyclopedia.com]
Hyperhidrosis
  • الصفحة 151 - Follicular keratosis and verrucous lesions on the extensor surfaces of the arms and legs and on the buttocks (36%) (Figures 11.5 and 11.6) • Palmopiantar hyperhidrosis (20%) Extracutaneous lesions • Cornea! ‏[books.google.com]
Epistaxis
  • Patient can present chronic conditions such as pharyngitis, laryngitis, dysphonia and odinophagy as well as atrophic rhinitis followed by epistaxis and catarrh (3).[arquivosdeorl.org.br]
Suggestibility
  • .: p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split handfoot malformation suggest a genotype-phenotype correlation. ‏[books.google.com]
  • Her growth and developmental history were normal with no history suggestive of neural, aural, ocular deficits, and abnormality in sweating pattern or recurrent episodes of fever.[ijpd.in]
  • As the name suggests, there is a fundament defect in the development of the skin and its appendages and mucous membranes.[thedoctorsdoctor.com]
  • The following tips are suggested if you suffer from ectodermal dysplasia: Wear a wig and dentures to improve your appearance. Use artificial tears to replace the normal tearing of the eyes which is otherwise affected.[medindia.net]
  • On examination, he had discoid eczematous lesions suggestive of nummular eczema. Looking at his face, we noticed peculiar facies. There was loss of eyebrows and eyelashes. There was periorbital and perioral hyperpigmentation.[idoj.in]
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]
Mydriasis
  • 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]
Nystagmus
  • 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]
Convulsions
  • One of the consequences of gland alteration is the impossibility to sweat, what happens due to body temperature, hyperthermia crisis and fever convulsions (3,13).[arquivosdeorl.org.br]

Treatment

  • 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]
  • Orthodontic treatment needs to be considered for malaligned teeth to be positioned favorably prior to removable or fixed partial denture treatment.[jiaomr.in]
  • “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]

Prognosis

  • 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]
  • 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]

Etiology

  • 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]
  • 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]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!