Presentation
A review of seventeen ectodermal dysplasias is presented for different diagnosis. [wwww.unboundmedicine.com]
This is in accordance with the dental phenotype of the present OODD-case. [bmcdermatol.biomedcentral.com]
He presented the same clinical featuresas his cousins, but the whole presentation was more severe inhis case (Fig. 6) (Table I). Palmar creases and dermatoglyphicpatterns were unremarkable. [myslide.es]
At physical exam, she presented with sparse hair on the scalp and eyebrows, delayed dentition and pointed teeth, and onychodysplasia. [epostersonline.com]
Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis [ncbi.nlm.nih.gov]
Jaw & Teeth
- Widely Spaced Teeth
Teeth abnormalities include small,widely spaced peg teeth, hypodontia, and con-genital absence of most and sometimes all secondaryteeth. [docslide.net]
Skin
- Follicular Hyperkeratosis
They present with smooth tonguesand diffuse follicular hyperkeratosis. Furthermore, hair hadbeen absent at birth in two of our patients. [myslide.es]
All six patients in our study have severe hypodontia, smooth tongue with reduced papillae, hyperhidrosis of palms and soles, diffuse follicular hyperkeratosis and dry skin. [nature.com]
- Palmar Erythema
Keratoderma and palmar erythema was also noticed in affected individuals ( Figure 1b ). Scalp hair was reported absent in two patients at birth. Affected individuals complained of hyperhidrosis in palms and soles as well as heat intolerance. [nature.com]
- Skin Patch
Nevertheless, unlikepreviously described cases, our patients do not show eithertelangiectatic or atrophic skin patches, nor sparse hair,eyelashes, and eyebrows. They present with smooth tonguesand diffuse follicular hyperkeratosis. [myslide.es]
- Cafe-Au-Lait Spots
The family described by Pinheiro et al.[1981] with hypodontia, onychodysplasia, and mild palmo-plantar keratosis, also had sparse hair, eyelashes, and eye-brows, cafe au lait spots over the back, and osseous abnorm-alities not present in these patients [myslide.es]
Face, Head & Neck
- Malar Rash
We describe a boy who developed a blistering malar rash soon after birth. When examined at 11 months, and then at 27 months of age, he had persistent atrophic malar plaques that reddened with heat. [ncbi.nlm.nih.gov]
Treatment
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
[…] side effects with indication on their severity and prevalence, 5) self-care for after the treatment. [bad.org.uk]
Prognosis
Prognosis - Odonto onycho dysplasia with alopecia Not supplied. Treatment - Odonto onycho dysplasia with alopecia Not supplied. Resources - Odonto onycho dysplasia with alopecia Not supplied. [checkorphan.org]
Relative worth of estrogen or progesterone receptor and pathologic characteris- tics of differentiation as indicators of prognosis of node negative breast cancer patients: findings from national surgical adjuvant breast and bowel protocol B-06. [docslide.net]
Prognosis Life expectancy is normal ; the main challenge is the symptomatic management of whichever ectodermal pathologies cause the patient the most concern. [atlasgeneticsoncology.org]
"Cutaneous and mucosal lichen planus: a comprehensive review of clinical subtypes, risk factors, diagnosis, and prognosis". TheScientificWorldJournal. 2014 : 1–22. doi : 10.1155/2014/742826. PMC 3929580. [en.wikipedia.org]
At present, the prognosis of three of the molars is very poor. Fig. 1 Upper panel : Hyperkeratosis of the palms with erythema, scaling, erosions and fissuring. Dystrophic finger nails with spooning. [bmcdermatol.biomedcentral.com]
Etiology
Etiology Homozygous mutations have been described in the WNT10A gene in six patients born to three consanguineous families. Genetic counseling Transmission is autosomal recessive. [orpha.net]
Table 3: Skin and oral mucosal manifestations and their relations to the etiology of chronic renal failure Click here to view Table 4: Nail and hair manifestations and their relations to the etiology of chronic renal failure Click here to view Discussion [ejdv.eg.net]
The etiology of oral LP are unknown. It is not clear whether the mechanisms causing isolated oral LP are different from those causing oral LP with cutaneous LP. [en.wikipedia.org]
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]
Epidemiology
ORPHA:2721 Synonym(s): OODD Prevalence: Inheritance: Autosomal recessive Age of onset: Childhood ICD-10: Q82.4 OMIM: 257980 UMLS: C0796093 C1275074 MeSH: C537742 GARD: 4054 MedDRA: - Summary Epidemiology Less than 15 cases have been described so far. [orpha.net]
OODD Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]
Epidemiology Less than 15 cases have been described so far. Etiology Homozygous mutations have been described in the WNT10A gene in six patients born to three consanguineous families. Genetic counseling Transmission is autosomal recessive. [rarediseases.info.nih.gov]
A Clinical, Genetic and Epidemiological Study. Baltimore : Johns Hopkins Press. Goodman, R.M., Gorlin, R.J. 1970. The Face in Genetic Disorders. Saint Louis : The C.V. Mosby Co. Gorlin, R.J., Pindborg, J.J. 1964. Syndromes of the Head and Neck. [cambridge.org]
Community Dentistry and Oral Epidemiology. 15 (1): 52–6. PMID 3467894. ^ Alabi GO, Akinsanya JB (June 1981). "Lichen planus in tropical Africa". Tropical and Geographical Medicine. 33 (2): 143–7. [en.wikipedia.org]
Pathophysiology
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]
PMID 24672362. ^ a b "Lichen Planus: Practice Essentials, Background, Pathophysiology". 2018-08-14. ^ Gorouhi F, Davari P, Fazel N (2014-01-30). [en.wikipedia.org]
The pathophysiology of this phenomenon is related to the proximal half of the nail appearing white because of edema associated with a dilated capillary network and the other half of the nail bed appearing normal [28]. [ejdv.eg.net]
Prevention
[…] of Low Birth Weight Prevention of Neural Tube Defects Prevention of Prematurity Preventative Medicine Preventing Illness Prickly Heat Primary Fibromyalgia Syndrome Primary Nocturnal Enuresis Prostadynia Prostatalgia Prostate Enlargement Prostatitis Psoriasis [olathehealth.org]
And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
Webbed toes * Toenail abnormalities * Small teeth Causes - Odonto onycho dysplasia with alopecia * Acrofacial dysostosis Preis type * Acropectoral syndrome * Acropectorovertebral dysplasia * Bardet-Biedl syndrome, type 1 * Bardet-Biedl syndrome, type 10 Prevention [checkorphan.org]
The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer. [gulfdoctor.net]
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]