Symptoma

Dermo-Odonto Dysplasia

[…] may also be present. [dovemed.com]

ORPHA:1660 Synonym(s): - Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood ICD-10: Q82.4 OMIM: 125640 UMLS: C1852144 MeSH: - GARD: 1816 MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]

This is in accordance with the dental phenotype of the present OODD-case. [bmcdermatol.biomedcentral.com]

There is typically hypodontia with microdontia.We present an unusual case of ED with severe hypodontia and macrodontia affecting all first permanent molar teeth.We also consider the classification and presentation of this disorder. [jocpd.org]

Individuals affected by ED present variable clinical and physical manifestations ². [scielo.br]

  • Nail Abnormality

    The skin and nail abnormalities were for many years interpreted as psoriasis and treated accordingly. [pubfacts.com]

    Sparse and often light pigmented scalp hair, eyebrow, eyelashes with nail abnormality is common. In our cases they show light pigmented sparse hair, eyebrows, eyelashes without nail abnormalities. [jemds.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]

  • Microdontia

    Affiliated tissues include skin, and related phenotypes are thin skin and microdontia Wikipedia : 77 Dermoodontodysplasia is dental problems, trichodysplasia, and nail and skin... more... [malacards.org]

    Showing of 18 80%-99% of people have these symptoms Ectodermal dysplasia 0000968 Fingernail dysplasia Abnormal fingernail development 0100798 Microdontia Decreased width of tooth 0000691 Reduced number of teeth Decreased tooth count 0009804 Sparse body [rarediseases.info.nih.gov]

    The signs and symptoms of Dermoodontodysplasia may include the following: Very frequently present symptoms in 80-99% of the cases: Ectodermal dysplasia Fingernail dysplasia Microdontia Reduced number of teeth Sparse body hair Sparse scalp hair Thin skin [dovemed.com]

    Microdontia Radiograph (X-ray) showing microdontia. Note also periapical lesion on the maxillary left lateral incisor. Specialty Dentistry Microdontia is a condition in which one or more teeth appear smaller than normal. [en.wikipedia.org]

  • Prolapse

    New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse. Am. J. Med. Genet. A. 2015; 167(6):1396-9. PMID: 25899461 Huckert, M, et al. [invitae.com]

    [Bladder]; Bladder prolapse SKELETAL: [Hands]; Hypermobility of distal interphalangeal joints; Acroosteolysis; [Feet]; Clubfoot; Acroosteolysis SKIN, NAILS, HAIR: [Skin]; Fragile skin; Easy bruisability; Cigarette-paper scars; Atrophic skin over ears [findzebra.com]

  • Alopecia

    Physical modalities include wigs for the alopecia and sculpting or bonding of artificial nails for cosmesis may be desired. [dermatologyadvisor.com]

    Metaphyseal chondrodysplasia with ectodermal dysplasia, Cupped metaphyses and cone-shaped epiphyses with alopecia Uncombable hair syndrome Synonyms: Pili trianguli et Canaliculi, Cheveux incoiffables, Unmanageable hair syndrome, Spun glass hair Zlotogora [rarediseases.info.nih.gov]

    Clinical differential considerations include: alopecia areata aplasia cutis congenita focal dermal hypoplasia syndrome incontinentia pigmenti Naegeli-Franceschetti-Jadassohn syndrome pachyonychia congenita Promoted articles (advertising) [radiopaedia.org]

    […] of teeth-maxillary hypoplasia-genu valgum syndrome Oculocerebral hypopigmentation syndrome, Cross type Oculodental syndrome, Rutherfurd type Oculodentodigital dysplasia Oculofaciocardiodental syndrome Oculootodental syndrome Odonto-onycho dysplasia-alopecia [se-atlas.de]

  • Thin Skin

    It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. [malacards.org]

    It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely. [orpha.net]

    The signs and symptoms of Dermoodontodysplasia may include the following: Very frequently present symptoms in 80-99% of the cases: Ectodermal dysplasia Fingernail dysplasia Microdontia Reduced number of teeth Sparse body hair Sparse scalp hair Thin skin [dovemed.com]

  • Sparse to No Body Hair

    Affected individuals presented with thin eyelashes, sparse scalp and body hair. The skin was dry with pilar keratosis and diffuse follicular hyperkeratosis. Keratoderma and palmar erythema was also noticed in affected individuals ( Figure 1b ). [nature.com]

    Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA, EDAR, or EDARADD genes. [findzebra.com]

  • Low Self-Esteem

    The complications of Dermoodontodysplasia may include: Problems with ingestion of food owing to dental problems Low self-esteem Complications may occur with or without treatment, and in some cases, due to treatment also. [dovemed.com]

Despite a comprehensive endocrine workup, the only abnormality detected was a suboptimal cortisol response to hypoglycemia in the propositus. Five other family members seemed to be affected. [jamanetwork.com]

The complications of Dermoodontodysplasia may include: Problems with ingestion of food owing to dental problems Low self-esteem Complications may occur with or without treatment, and in some cases, due to treatment also. [dovemed.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]

Orthoodontic and prosthodontic treatment of ectodermal dysplasia: A case report. Br Dent J 2004; 196:677-9. What is new? Early and extensive dental treatment is needed throughout childhood. [e-ijd.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]

Treatment Options There are no specific treatments for this condition. [dermatologyadvisor.com]

PMID: 28579538 Free PMC Article Prognosis Thay S, Peprah SA, Hur C, Tramontano AC, Maling E, Goldstein AT, Hong C Asian Pac J Cancer Prev 2019 Feb 28;20(2):653-659. doi: 10.31557/APJCP.2019.20.2.653. [ncbi.nlm.nih.gov]

Importance of tumour thickness measurement in prognosis of tongue cancer MA Gonzalez-Moles, F Esteban, A Rodriguez-Archilla, I Ruiz-Avila, ... [scholar.google.es]

(Etiology) The exact underlying cause of Dermoodontodysplasia is currently unknown The disorder is inherited in an autosomal dominant manner Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy [dovemed.com]

[from SNOMEDCT_US ] Etiology Fokom Domgue J, Messick C, Milbourne A, Guo M, Salcedo MP, Dahlstrom KR, Chiao EY, Deshmukh AA, Sturgis EM, Schmeler KM Gynecol Oncol 2019 May;153(2):266-270. Epub 2019 Mar 1 doi: 10.1016/j.ygyno.2019.02.024. [ncbi.nlm.nih.gov]

While in our case, the most appropriate etiology that can be thought of is syndromal involvement (ILVEN). [ijdentistry.com]

Etiology This syndrome is inherited in an autosomal dominant fashion and is due to mutations in the gap junction beta 6 (GJB6) gene that is located on chromosome 13q12 and encodes for the protein connexin 30. [dermatologyadvisor.com]

The etiology remains unknown, but theories include an alteration that occurs in utero or in in-fancy; the possibility of a systemic or endocrine aberration; a postzygotic mutation resulting in genotypic and phenotypic mosaicism of bone and skin, similar [mdedge.com]

Such teeth may be restored to resemble normal sized teeth, [2] typically with composite build ups or crowns. [4] Orthodontics may be required in severe cases to close gaps between the teeth. [4] Epidemiology [ edit ] Females are affected more than males [en.wikipedia.org]

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]

[…] 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]

Pathophysiology Manifestations of the syndrome are due to mutations in connexin 30, which is a gap junction protein that functions to form channels between cells allowing diffusion of ions and metabolites, therefore affecting cell-to-cell coupling and [dermatologyadvisor.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]

The treatment is usually given to manage the signs and symptoms and any complication that may develop How can Dermoodontodysplasia be Prevented? Currently, Dermoodontodysplasia may not be preventable, since it is a genetic disorder. [dovemed.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]

Physicians may recommend that impacted nasal secretions be carefully removed on a regular basis to help prevent or limit the severity of rhinitis. [rarediseases.org]

[…] nasal bridge (saddle nose) gives the impression of a small sized face. [5] Treatment is symptomatic management that involves multidisciplinary approaches as oral rehabilitation, restorative procedures, and maintenance of cool, ambient temperature to prevent [idoj.in]

Although such tissue does not have an increased malignant potential compared with the normal breast and prophylactic excision for cancer prevention is not required, routine screening should be performed with periodic physical examination and radiologic [crutchfielddermatology.com]