Presentation
Page #’s: 2006. 28:4. 345-349 Major topic: Presentation of Trichodental Dysplasia(TD) Minor topic(s): Ectodermal Dysplasia and it’s MANY variants Main Purpose: To present the clinical, radiographic, and genetic features of a 4yo child w/ TD that will [stjoeslitreview.blogspot.com]
The parents refer that the defect is present since birth and they never cut the hair of the frontal and occipital regions. [clinicaldermatology.eu]
(Etiology) The genetic cause of Tricho-Dental Syndrome is not known at the present time Tricho-Dental Syndrome is inherited in an autosomal dominant manner Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when [dovemed.com]
CASE REPORT A healthy Hispanic 3-year-old girl presented with a history of short hair since birth. The mother reported that there was excessive shedding and poor hair growth, and that the girl had never needed a haircut. [ncbi.nlm.nih.gov]
Entire Body System
- Pain
[…] dent.niigata-u.ac.jp Affiliation Niigata University Section Medical and Dental Hospital, Oral Surgery,Radiology and Anesthesia Other affiliation Niigata University, Niigata University Research funding number 50323978 Research Areas Boundary medicine / Pain [researchmap.jp]
[…] muscle pains diarrhoea loss of appetite abdominal pains The symptoms listed are from both NHS and the ZOE Health Study. [gov.je]
One that is expercening constant pain may want to pay attention to foods and beverages that can cause their pain level to spike if they are allergic to them. [stoptrikiff.eu]
SYNDROME, FAMILIAL, 1 EPISODIC PAIN SYNDROME, FAMILIAL, 2 EPISODIC PAIN SYNDROME, FAMILIAL, 3 Exocrine Pancreatic Insufficiency Faciocardiomelic Syndrome Faciocardiorenal Syndrome Fairbank Disease Familial Dermographism Familial Hyperbeta- And Prebetalipoproteinemia [empiregenomics.com]
[…] bouche, aux dents ou à la mâchoire, enflure ou infection des gencives, mauvaise haleine) Osteonecrosis of the jaw: (numbness or feeling of heaviness in the jaw, poor healing of the gums especially after dental work, loose teeth, exposed bone in mouth, pain [wordscope.com]
- Short Stature
Short stature monodactylous ectrodactyly cleft palate Short stature prognathism short femoral necks Short stature Robin sequence cleft mandible hand anomalies clubfoot Short stature talipes natal teeth Short stature valvular heart disease Short stature [sosu.us]
STATURE, AND IMPAIRED GLUCOSE METABOLISM + MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES Microcephaly-Capillary [rgd.mcw.edu]
CEREBELLAR-FACIAL-DENTAL SYNDROME Is also known as cerebellar-facial-dental syndrome|cerebellofaciodental syndrome Related symptoms: Intellectual disability Global developmental delay Short stature Microcephaly Scoliosis SOURCES: ORPHANET OMIM MENDELIAN [mendelian.co]
Thrombotic microangiopathy, familial Thrush Thumb absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb deformity Thumb stiff brachydactyly mental retardation Thy Thymic carcinoma [ipfs.io]
- Anemia
Type 1 Peeling Skin Syndrome 1 Pili Torti Pili Torti, Early-Onset Pilodental Dysplasia With Refractive Errors Progeroid Syndrome, Petty Type Rothmund-Thomson Syndrome Type 1 Rothmund-Thomson Syndrome Type 2 Sabinas Brittle Hair Syndrome Sideroblastic Anemia [familydiagnosis.com]
Metabolism Dysfunction Syndrome 4 (bilateral Striatal Degeneration and Progressive Polyneuropathy Type); THMD4 OMIM:614458 Thiamine Metabolism Dysfunction Syndrome 5 (episodic Encephalopathy Type); THMD5 OMIM:249270 Thiamine-Responsive Megaloblastic Anemia [informatics.jax.org]
[…] of skin Finding of palmar crease Flexural Darier's disease Flynn-Aird syndrome Focal dermal hypoplasia Follicular hyperkeratosis Frontonasal dysplasia sequence Genetic defect of hair shaft Genodermatosis Giant porokeratosis Goltz syndrome Hemolytic anemia [icdlist.com]
[…] angioedema Kelley-Seegmiller Syndrome XLR 1/3 sporadic M >F Hypoxathine-guanine phosphoribosyltransferase (HGPRT) deficiency 0-1 yo: hyperuricemia, hypotonia, renal insufficiency, MR 1-2 yo: self-mutilating behavior Fencing stance basal ganglia macrocytic anemia [cram.com]
- Fever
Children with the disease may have difficulty controlling fevers. Mild illness may manifest as extremely high fevers, because the skin cannot sweat and do temperature regulation properly. [dentistryandmedicine.blogspot.no]
Symptoms include red or purple skin in the affected area, severe pain, fever, and vomiting. The most commonly … [checkrare.com]
Torti, Early-Onset Pilodental Dysplasia With Refractive Errors Progeroid Syndrome, Petty Type Rothmund-Thomson Syndrome Type 1 Rothmund-Thomson Syndrome Type 2 Sabinas Brittle Hair Syndrome Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers [familydiagnosis.com]
— M.H. page 296 __________________________________________________________________________________________________________________________________ S Q fever Qazi–Mar Quadrantanopia Quadriceps sparing myopathy Quadriceps tendon rupture Quadriparesis Quadriplegia [sosu.us]
Fowler on sore throat headache body aches no fever: Sore throa ache feve Head and Neck Ultrasound is a resource for ENT physicians and endocrinologists interested in There’s more than one way to solve this problem but the two most obvious are as follows [stoptrikiff.eu]
- Swelling
[…] en l’absence de toute pathologie : rapide évaluation Osteonecrosis of the jaw: (numbness or feeling of heaviness in the jaw, poor healing of the gums especially after dental work, loose teeth, exposed bone in mouth, pain in the mouth, teeth or jaw, swelling [wordscope.com]
Common cold, cough, bronchitis, fever, mouth and vocal cord swelling (inflammation), liver and gallbladder problems, loss of appetite, reducing spasms, increasing the amount of urine produced (diuretic), skin swelling (inflammation), wounds, and burns [nhha.org]
As a result, the teeth may be highly prone to decay (dental caries) and infection (abscess) that may cause swelling and pain. [rarediseases.org]
[…] 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, clogs, or inflames your skin can cause symptoms such as redness, swelling [icdlist.com]
Jaw & Teeth
- Dental Abscess
Due to improper tooth development, TDO patients suffer from high rates of dental caries causing dental abscess. [en.wikipedia.org]
Premature tooth loss, caused by dental abscesses and various other complications, may occur. 25 Dental management requires a team approach, including the general and/or pediatric dentist, dental hygienist, orthodontist, endodontist, oral surgeon, prosthodontist [dimensionsofdentalhygiene.com]
- Tooth Loss
Endodontic treatment of taurodontic teeth is especially challenging, due to the proximity and apical displacement of the roots. 26 Patients with TDO may experience hypersensitivity of the teeth, malocclusion due to attrition and loss of tooth structure [dimensionsofdentalhygiene.com]
- Aphthous Stomatitis
Pericardial constriction with growth failure Pericardial defect diaphragmatic hernia Pericardium absent mental retardation short stature Pericardium congenital anomaly Perilymphatic fistula Perimyositis Perinatal infections Periodic disease Periodic fever, aphthous [sosu.us]
Musculoskeletal
- Fracture
Horizontal fractures were induced by a mechanical force to the root of 15 single rooted teeth. Vertical fractures were induced in... AN EPIDEMIOLOGICAL STUDY OF MISSING TEETH AMONG THE NORTH INDIAN POPULATION. Raju, P. [connection.ebscohost.com]
As the person affected by TDO ages, increased bone fractures may occur. [en.wikipedia.org]
The boy did not have any abnormal sweating, and no history of any fractures. His fingernails had some creasing, and mild clubbing. [stjoeslitreview.blogspot.com]
Abnormal denseness of the calvaria and/or long bones may affect the outer (cortical) layers of bone, causing some affected individuals to be prone to fractures in these areas. [rarediseases.org]
- Macrocephaly
Affected individuals with TDO-III may also exhibit an unusually large head (macrocephaly) and abnormalities of the bony layer of the skull. [rarediseases.org]
Macrosomia, and Facial Dysmorphism Syndrome macrocephaly-autism syndrome Macrophage Activation Syndrome Macrosomia Obesity Macrocephaly Ocular Abnormalities Maffucci syndrome Majeed Syndrome Malabsorption Syndromes + Male Hypogonadism with Mental Retardation [rgd.mcw.edu]
Attention deficit hyperactivity disorder Hyperactivity Anxiety Absent frontal sinuses Reduced number of teeth Aggressive behavior Autism Ulnar bowing Oxycephaly Behavioral abnormality Vitreoretinal degeneration Absent speech Retrognathia Relative macrocephaly [mendelian.co]
[…] with ichthyosis and deafness Keratosis rubra pilaris Kindler's syndrome Kohlschutter's syndrome Lichen spinulosus Linear porokeratosis Linear/nevoid/zosteriform Darier's disease Lipomatous hamartoma Localized congenital cutis laxa Lumpy scalp syndrome Macrocephaly-capillary [icdlist.com]
- Small Head
Symptoms - Trichodental syndrome * Short hair * Fine hair * Dry hair * Mental retardation * Small head * Small nostrils * Narrow forehead * Narrow nasal bridge Causes - Trichodental syndrome Not supplied. [checkorphan.org]
[…] skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Shell teeth 0000694 Slow-growing hair Slow growing hair Slow rate of hair growth Slow speed of hair growth [ more ] [rarediseases.info.nih.gov]
In addition, people with this condition may have an abnormally small head. Cranioectodermal Dysplasia – 1 person Cranioectodermal dysplasia affects many parts of the body. [nfed.org]
- Small Hand
Only a small handful of cases have been reported. Teeth in children with TD are described as having normal enamel, extremely thin dentin, very large pulps, and short roots. They have been described as ‘shell teeth’, or ‘Ghost teeth’. [stjoeslitreview.blogspot.com]
Skin
- Alopecia
The clinical distinction between alopecia and hypotrichosis is that alopecia involves hair growth that is later lost. Hypotrichosis is a lack of any hair growth. The distinction between alopecia and hypotrichosis is not clear cut for many disorders. [keratin.com]
Alopecia: syndromes of genetic significance. J Invest Dermatol 1973:60:475–492. PubMed CrossRef Google Scholar 4. Sâlamon T. Hypotrichosis and alopecia in cases of genodermatosis. In: Orfanos CE, Montagna W, Stüttgen G, eds. [link.springer.com]
Proper examination of the patient with hair loss is discussed in depth as is androgenetic alopecia, the most common cause of hair loss. [books.google.es]
The hair alterations consist of diffuse alopecia with a broad forehead and partial alopecia of the lateral third of the eyebrows. [plasticsurgerykey.com]
2 Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and [nfed.org]
- Sparse Hair
Diseases related with Microcephaly and Sparse hair In the following list you will find some of the most common rare diseases related to Microcephaly and Sparse hair that can help you solving undiagnosed cases. [mendelian.co]
HPO Frequency HPO Source Accession 1 microcephaly 32 HP:0000252 2 hypodontia 32 HP:0000668 3 shell teeth 32 HP:0000694 4 conical tooth 32 HP:0000698 5 fine hair 32 HP:0002213 6 slow-growing hair 32 HP:0002217 7 brittle hair 32 HP:0002299 8 sparse hair [malacards.org]
He had thin sparse hair, frontal bossing, thin eyebrows, and a fairly large head. His mom said a CT scan was performed to assess the size/shape of his head, and that everything came back normal. [stjoeslitreview.blogspot.com]
Hair Syndrome Toriello Syndrome I Toriello Syndrome Ii Toriello-Carey Syndrome Torsten Sjögren Syndrome Townes Syndrome Townes-Brocks Syndrome (Tbs) Tracheoesophageal Fistula-Esophageal Atresia-Multiple Congenital Anomaly Syndrome Tranebjaerg Syndrome [neo-genetics.com]
In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair. Still another may have hearing loss and defects of the enamel of the teeth. [nfed.org]
- Sparse Hair
Diseases related with Microcephaly and Sparse hair In the following list you will find some of the most common rare diseases related to Microcephaly and Sparse hair that can help you solving undiagnosed cases. [mendelian.co]
HPO Frequency HPO Source Accession 1 microcephaly 32 HP:0000252 2 hypodontia 32 HP:0000668 3 shell teeth 32 HP:0000694 4 conical tooth 32 HP:0000698 5 fine hair 32 HP:0002213 6 slow-growing hair 32 HP:0002217 7 brittle hair 32 HP:0002299 8 sparse hair [malacards.org]
He had thin sparse hair, frontal bossing, thin eyebrows, and a fairly large head. His mom said a CT scan was performed to assess the size/shape of his head, and that everything came back normal. [stjoeslitreview.blogspot.com]
Hair Syndrome Toriello Syndrome I Toriello Syndrome Ii Toriello-Carey Syndrome Torsten Sjögren Syndrome Townes Syndrome Townes-Brocks Syndrome (Tbs) Tracheoesophageal Fistula-Esophageal Atresia-Multiple Congenital Anomaly Syndrome Tranebjaerg Syndrome [neo-genetics.com]
In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair. Still another may have hearing loss and defects of the enamel of the teeth. [nfed.org]
- Sweating
The first illustration of Ectodermal Dysplasia - Dental Cosmos, 1883 Symptoms of Ectodermal Dysplasia Absence of sweting or decreased sweating because of a lack of sweat glands. Children with the disease may have difficulty controlling fevers. [dentistryandmedicine.blogspot.no]
and (4) disorders of sweating (dyshidrosis: anhidrosis, hypohidro- sis, and hyperhidrosis). The term "euhidrosis" refers to nor- mal sweating. [documents.tips]
The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their [ebi.ac.uk]
Links Authors, ,, Source MeSH Chromosome Aberrations Chromosome Disorders Dentin Dysplasia Ectodermal Dysplasia Female Humans Male Microradiography Microscopy, Fluorescence Odontodysplasia Pedigree Sweat Glands Syndrome Tetracyclines Tooth Abnormalities [unboundmedicine.com]
The ectodermal dysplasia term was originally applied to anhidrotic ectodermal dysplasia in which hair, teeth, nails, and sweat glands are defective. [plasticsurgerykey.com]
- Skin Disease
People with NOMID … Epidermolysis Bullosa April 15, 2018 by Peter Ciszewski Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to become fragile and to blister very easily. [checkrare.com]
Ectodermal dysplasia/ skin fragility syndrome 0 *Ectodermal Dysplasia *Skin Diseases. Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features 0 *Ectodermal Dysplasia *Hearing Loss, Sensorineural *Facies. [reference.md]
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 recent years, major breakthroughs in genomic techniques yielded considerable progress toward unraveling the molecular bases of inherited skin diseases. [plasticsurgerykey.com]
Face, Head & Neck
- Frontal Bossing
Other possible signs are microcephaly, frontal bossing, and mild retardation. In this case, a 4 yo Hispanic male presented to UMDNJ. He had thin sparse hair, frontal bossing, thin eyebrows, and a fairly large head. [stjoeslitreview.blogspot.com]
Some individuals with the disorder exhibit an abnormally large head (macrocephaly) with an unusually prominent forehead (frontal bossing) and/or an abnormally square jaw. [rarediseases.org]
bossing Syndactyly Short nose Dystonia Muscular hypotonia High forehead Osteopenia Metabolic acidosis Poor speech Abnormal facial shape Hirsutism Acidosis Failure to thrive Strabismus Hypertelorism Hypoplasia of the corpus callosum Seizures Feeding difficulties [mendelian.co]
Psychiatrical
- Fear
The anterior teeth were left alone for fear of pulpal exposure. He was put on frequent recalls for eval, as well as daily Fl regiment. Key points/Summary: While TD is rare, it is not uncommon to see children with ED. [stjoeslitreview.blogspot.com]
Full crowns over teeth with dentinogenesis imperfecta have not been fully accepted because of fear of fractures at the level of the pronounced constriction, but cases have been reported in which such treatment is successful. [thefreelibrary.com]
Fear of disease of the hair. JAMA 1908;1:19-23. 13. Bewley A, Taylor RE. Psychodermatology and psychocutaneous disease. In: Griffiths CE, Barker J, Bleiker T, Chalmers R, Creamer D, editors. Rook's Textbook of Dermatology. 9 th ed. [ijdvl.com]
Urogenital
- Cryptorchidism
項番 疾患No 英語疾患名 1 100050 Aarskog syndrome, autosoma dominant 2 100070 Aortic aneurysm, familial abdominal, 1 (AAA1) (Aneurysm, abdominal aortic; AAA) (Abdominal aortic aneurysm) 3 100100 Absence of abdominal muscle with urinary tract abnormality and cryptorchidism [becomerich.lab.u-ryukyu.ac.jp]
Toni–Debre–Fanconi maladie Toni–Fanconi syndrome TORCH syndrome Toriello–Carey syndrome Toriello–Lacassie–Droste syndrome Toriello syndrome Toriello–Higgins–Miller syndrome Torres–Ayber syndrome Torsades de pointes Torsion dystonia 7 Torticollis Torticollis keloids cryptorchidism [ipfs.io]
[…] neoplasm Toni Debre Fanconi maladie Toni-Fanconi syndrome TORCH syndrome Toriello Carey syndrome Toriello Lacassie Droste syndrome Toriello syndrome Toriello-Higgins-Miller syndrome Torres Ayber syndrome Torsion dystonia 7 Torticollis Torticollis keloids cryptorchidism [wikidoc.org]
Treatment
and in some cases, due to treatment also. [dovemed.com]
The autoimmune disease alopecia areata is examined comprehensively, including its pathogenesis, clinical features, differential diagnosis, and treatment. This edition also covers new developments on the diagnosis and treatment of the disease. [books.google.es]
Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]
Treatment should include protecting the teeth best as possible with crowns, frequent recall visits. Assessment of Article: Good case report. Nothing too Earth shattering [stjoeslitreview.blogspot.com]
Treatment - Trichodental syndrome Not supplied. Resources - Trichodental syndrome Not supplied. [checkorphan.org]
Prognosis
(Outcomes/Resolutions) The prognosis of Tricho-Dental Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms and complications [dovemed.com]
Prognosis - Trichodental syndrome Not supplied. Treatment - Trichodental syndrome Not supplied. Resources - Trichodental syndrome Not supplied. [checkorphan.org]
Hitoshi Miyaoka, Kunitoshi Kamijima, Yoshiyuki Muramatsu, Yutaka Tanaka, Michio Hosaka, Yusuke Miwa, Katsuya Fuse, Fumitoshi Yoshimine, Ichiro Mashima, Natsue Shimizu, Hiroto Ito, Eiji Shimizu General Hospital Psychiatry 52 64-69 May 2018 [Refereed] Prognosis [researchmap.jp]
A team based approach between dental specialists, oral and maxillofacial surgeons, and physicians is necessary for treating the systemic effects and improves the prognosis. [en.wikipedia.org]
Etiology
Export Citation: APA/MLA Format Download EndNote Download BibTex MeSH Terms Descriptor/Qualifier: Fibromuscular Dysplasia / diagnosis, epidemiology*, etiology, pathology, therapy Humans From MEDLINE®/PubMed®, a database of the U.S. [biomedsearch.com]
(Etiology) The genetic cause of Tricho-Dental Syndrome is not known at the present time Tricho-Dental Syndrome is inherited in an autosomal dominant manner Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when [dovemed.com]
The etiology of enamel hypoplasia is elusive, necessitating a thorough medical/dental history. [dimensionsofdentalhygiene.com]
Etiology of Anorexia Nervosa Causes of anorexia nervosa include genetic and biological factors along with subliminal ones. [nhha.org]
Hydrocephalic Syndromes: correlation between clinical, developmental and etiological, neuroradiological aspects cod. 90/02/9)189. [giorgioalbertini.it]
Epidemiology
The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]
Export Citation: APA/MLA Format Download EndNote Download BibTex MeSH Terms Descriptor/Qualifier: Fibromuscular Dysplasia / diagnosis, epidemiology*, etiology, pathology, therapy Humans From MEDLINE®/PubMed®, a database of the U.S. [biomedsearch.com]
AN EPIDEMIOLOGICAL STUDY OF MISSING TEETH AMONG THE NORTH INDIAN POPULATION. Raju, P. [connection.ebscohost.com]
Genetic analyses have revealed a mutation in the DLX3 gene, which results in altered function of the gene product that produces manifestations of the syndrome. 9–11 Early epidemiologic investigations suggested three subtypes—TDO I, TDO II, and TDO III [dimensionsofdentalhygiene.com]
Prevention
Prevention - Trichodental syndrome Not supplied. Diagnosis - Trichodental syndrome signs and symptoms of Trichodental syndrome may vary on an individual basis for each patient. [checkorphan.org]
Next Document: Nutritional and metabolic aspects of stroke prevention. [biomedsearch.com]
Headache Vitamin Overdose Morphine Shooting After a look at intradermal Botox for the prevention of Migraines and headaches and relief from pain disorders. [stoptrikiff.eu]