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Hypohidrotic Ectodermal Dysplasia

HED


Presentation

  • Yellow-brown discoloration of the teeth Frequently present symptoms in 30-79% of the cases: Abnormality of dental morphology Advanced eruption of teeth Delayed eruption of teeth Dry skin Fine hair Reduced number of teeth Occasionally present symptoms[dovemed.com]
  • Her originality is to combine approaches both in mice and humans presenting these palate and teeth developmental defects as clinical phenotypical manifestations of rare diseases.[books.google.com]
  • The teeth that are present are frequently small and pointed.Hypohidrotic ectodermal dysplasia is associated with distinctive facial features including a prominent forehead, thick lips, and a flattened bridge of the nose.[icdlist.com]
  • This clinical report presents the diagnosis, treatment planning and prosthetic rehabilitation of a year-old female patient with AI ikparfaite with a group of dental anomalies.[avcilarescort.mobi]
Nail Abnormality
  • Hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis, Amelo-onycho-hypohidrotic syndrome Overview A rare disorder characterized primarily by tooth and nail abnormalities and reduced sweating ability.[checkorphan.org]
  • In addition, nail abnormalities may be more striking that those associated with TDO-I, with the nails tending to be extremely thin and brittle, with upper layers that may be prone to splitting.[rarediseases.org]
  • Adult Syndrome This is another rare condition characterized by abnormal teeth development, tear duct obstruction, nail abnormalities, pigmentation anomalies, plus hand and foot abnormalities.[hxbenefit.com]
  • Many patients are not diagnosed until infancy or childhood, when dental anomalies, nail abnormalities, or alopecia become apparent. AEC or Hay-Wells syndrome may manifest at birth as ankyloblepharon in association chronic scalp erosions.[emedicine.medscape.com]
  • Witkop’s syndrome is a rare autosomal dominant disorder characterized by tooth and nail abnormalities. It is a variant of ectodermal dysplasia. Mutations in MSX-1 cause failure and development of dentition in this syndrome.[vivavoceoralmedicineradiology.com]
Pathologist
  • Illustrated Examples Clinics of dentists, Dental surgeons, offices of Dentists, offices and clinics of Endodontists, offices of Oral pathologists, offices of Orthodontists, offices of Pathologists, oral: offices of Periodontists, offices of Prosthodontists[webhealthnetwork.com]
  • Neurofibromatosis type 1, also known as von Recklinghausen’s disease It is a neurodermal dysplasia first described by Friederich Daniel Von Recklinghausen, the pathologist, in 1882.[vivavoceoralmedicineradiology.com]
Alopecia
  • […] malformations (Q80-Q89) Other congenital malformations of skin (Q82) Q82.4 Ectodermal dysplasia (anhidrotic) Code Version: 2019 ICD-10-CM Synonyms Acanthosis nigricans Ackerman syndrome Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes Alopecia[healthprovidersdata.com]
  • Synonyms Acanthosis nigricans Ackerman syndrome Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Amelo-onycho-hypohidrotic syndrome Anhidrotic ectodermal dysplasia[icdlist.com]
  • - anosmia - deafness - hypogonadism [ ] Alopecia antibody deficiency [ ] Alopecia - contractures - dwarfism - intellectual deficit [ ] Alopecia - deafness - hypogonadism [ ] Alopecia-epilepsy-oligophrenia syndrome, Moynahan type [ ] Alopecia - epilepsy[wikicure.fandom.com]
  • Full Causes List for Ectodermal dysplasia syndrome » Types of Ectodermal dysplasia syndrome Some types of this condition may include: 4 Types of Ectodermal dysplasia syndrome : Ackerman syndrome Acrofacial dysostosis , Weyers type Adams-Oliver syndrome Alopecia-contractures-dwarfism-intellectual[familydiagnosis.com]
  • Universalis, Onychodystrophy, Vitiligo Alopecia, Neurologic Defects, and Endocrinopathy Syndrome alpha thalassemia-X-linked intellectual disability syndrome Alpha-Thalassemia Myelodysplasia Syndrome Alsing Syndrome Alstrom syndrome Alves Castelo dos[rgd.mcw.edu]
Eczema
  • Additional features of this condition include thin, wrinkled, and dark-colored skin around the eyes; chronic skin problems such as eczema; and a bad-smelling discharge from the nose (ozena). [ Read More ][icdlist.com]
  • Clinical Features of Ectodermal dysplasia syndrome : Oral cleft Xerostomia Everted lower lip vermilion Sinusitis Low-set ears Chronic otitis media Conductive hearing impairment Wide nose Cataract Visual loss Photophobia Acanthosis nigricans Dry skin Eczema[familydiagnosis.com]
  • Lymphoma, Malignancy Opthalmologic No underlying causes Overdose / Toxicity Chronic vitamin A toxicity Psychiatric No underlying causes Pulmonary Obesity hypoventilation syndrome Renal / Electrolyte No underlying causes Rheum / Immune / Allergy Dermatitis, Eczema[wikidoc.org]
  • […] ear, ear-patella-short, earlobes, early, early-onset, ears, eastern, ebd, ebj, ebola, ebs, ebs-md, ebstein, ecchondromata, echinococcosis, eclabion, ecp, ectasia, ectasic, ectodermal, ectodermic, ectopia, ectopic, ectrodactyly, ectromelia, ectropion, eczema-thrombocytopenia-immunodeficiency[rapsodyonline.eurordis.org]
  • Prevalence of atopic eczema is high.[vivavoceoralmedicineradiology.com]
Anhidrosis
  • An inability to sweat (anhidrosis) can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather and during exercise, because the body cannot cool itself by evaporating sweat.The immune deficiency in EDA-ID varies among individuals[icdlist.com]
  • Alpha-Thalassemia Myelodysplasia Syndrome Alsing Syndrome Alstrom syndrome Alves Castelo dos Santos Syndrome amelogenesis imperfecta Ameloonychohypohidrotic Syndrome Amniotic Band Syndrome androgen insensitivity syndrome Angelman syndrome Angelucci's syndrome anhidrosis[rgd.mcw.edu]
  • Patients with anhidrosis or hypohidrosis may present in early infancy with recurrent episodes of hyperpyrexia. Prognosis The prognosis for most patients with ectodermal dysplasia is very good.[emedicine.medscape.com]
  • Horner syndrome is a rare condition classically presenting with ipsilateral blepharoptosis, miosis (constricted pupil) and facial anhidrosis (loss of sweating) due to a disruption in the sympathetic nerve supply.[vivavoceoralmedicineradiology.com]
  • […] estrogen-dependent angioedema Inherited estrogen-dependent angioneurotic edema Inherited glutamine synthetase deficiency Inherited GS deficiency Inherited isolated adrenal insufficiency due to CYP11A1 deficiency Inherited zinc deficiency Insensitivity to pain - anhidrosis[csbg.cnb.csic.es]
Normal Hair
  • hair Clinical features from OMIM: 104570 MalaCards organs/tissues related to Ameloonychohypohidrotic Syndrome: 42 Skin Search GEO for disease gene expression data for Ameloonychohypohidrotic Syndrome.[malacards.org]
Sparse to No Body Hair
  • Affected individuals tend to have sparse scalp and body hair (hypotrichosis). EDA-ID is also characterized by missing teeth (hypodontia) or teeth that are small and pointed.[icdlist.com]

Workup

Streptococcus Pneumoniae
  • Caused by N meningitidis, other organisms are also associated including Streptococcus pneumoniae, β-hemolytic streptococcus group A, Staphylococcus aureus, Neisseria gonorrhoeae, Escherichia coli, Hemophilus influenzae, Klebsiella sp, and Pasturella sp[vivavoceoralmedicineradiology.com]

Treatment

  • Provides practical help with treatment planning, guiding the reader through the process of safe and effective decision-making.[books.google.com]
  • , and in some cases, due to treatment also.[dovemed.com]
  • Outpatient treatment clinics for alcoholism and drug addiction, Rehabilitation centers, outpatient (medical treatment), Respiratory therapy clinics.[webhealthnetwork.com]
  • Treatment - Ameloonychohypohidrotic syndrome Not supplied. Resources - Ameloonychohypohidrotic syndrome[checkorphan.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • Prognosis - Ameloonychohypohidrotic syndrome Not supplied. Treatment - Ameloonychohypohidrotic syndrome Not supplied. Resources - Ameloonychohypohidrotic syndrome[checkorphan.org]
  • Pediatric dentists should be aware of this pathology as early diagnosis provided by the oral symptoms leads to a better renal prognosis. 1. Paine ML, White SN, Luo W, Fong H, Sarikaya M, Snead ML.[contempclindent.org]
  • Prognosis The prognosis for most patients with ectodermal dysplasia is very good. Morbidity and mortality is related to the absence or dysfunction of eccrine and mucous glands.[emedicine.medscape.com]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Although some ectodermal dysplasia syndromes have no known genetic etiology, the number of ectodermal dysplasia syndromes with an identifiable genetic basis is increasing.[emedicine.medscape.com]
  • Heat-induced vascular disruption, teratogenicity are the etiological factors for these syndromes.[vivavoceoralmedicineradiology.com]

Epidemiology

  • […] oral calcium release-activate calcium modulator 1. [41] Odonto-onycho-dermal dysplasia (OODD), Schopf-Schultz-Passarge syndrome, selective tooth agenesis, and related forms of ectodermal dysplasia are caused by mutations in WNT10A . [42, 43, 44, 45] Epidemiology[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Pereira PC, Miranda DM, Oliveira EA, Silva AC: Molecular pathophysiology of renal tubular acidosis. Curr Genomics 2009;10:51–59. MacGibbon D: Generalized enamel hypoplasia and renal dysfunction. Aust Dent J 1972;17:61–63.[karger.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]
  • Molecular pathophysiology of renal tubular acidosis. Curr Genomics 2009;10:51-9. 9. Lubinsky M, Angle C, Marsh PW, Witkop CJ Jr.[contempclindent.org]
  • Acta Pae-diatr Scand 1984;73:868- 874. 4 Pereira PC, Miranda DM, Oliveira EA, Simöes e Silva AC: Molecular pathophysiology of renal tubular acidosis.[cyberleninka.org]
  • Pathophysiology is believed to be consumption of platelets and fibrinogen by intralesional thrombosis.[vivavoceoralmedicineradiology.com]

Prevention

  • […] and prevention of such disorders Regular medical screening at periodic intervals with tests and physical examinations are recommended.[dovemed.com]
  • Careful direct laryngoscopy is required to prevent damage to fragile teeth. Hypohidrosis may result in temperature disturbances, and atropine should be used carefully.[accessanesthesiology.mhmedical.com]
  • Prevention - Ameloonychohypohidrotic syndrome Not supplied. Diagnosis - Ameloonychohypohidrotic syndrome In cases of diffuse thickening of the skin, a thyroid profile with T 3 , T 4 , and TSH should be done. This should also identify hypothyroidism.[checkorphan.org]
  • 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]
  • The dentist then applies the sodium hypochlorite for 10 minutes, cleans the teeth, and applies a sealant to prevent new stains.[teethokay.com]

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