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Tricho-Dento-Osseous Syndrome

Trichodentoosseous Syndrome


Presentation

  • Of significance is the fact that in all the AI cases, none of the taurodontic defects were present on the mandibular first permanent molars.[ncbi.nlm.nih.gov]
  • Two phenotypes have been described, namely patients with phenotype A, presenting with photophobia, nystagmus and visual impairment as well as AI while phenotype B presenting with visual impairment and AI.[slda.lk]
Nail Abnormality
  • Symptoms to look for in children: Abnormal teeth Abnormal nails Abnormal hair Skeletal manifestations Causes of TDO Syndrome TDO is caused by as mutation in the DLX3 gene on chromosome 17q21. A parent may pass the gene to a child.[nfed.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]
Dental Abscess
  • Clinical management of TDO is centered on preventing dental abscesses with stainless steel crowns and improving appearance with esthetic restorations.[ncbi.nlm.nih.gov]
  • Due to improper tooth development, TDO patients suffer from high rates of dental caries causing dental abscess.[en.wikipedia.org]
Small Widely Spaced Teeth
  • Teeth Thin and/or pitted enamel (common feature) Small, widely spaced teeth Enlarged pulp chambers and taurodontism.[nfed.org]
  • Early intraoral photographs demonstrate enamel hypoplasia with associated discoloration, and small, widely spaced teeth with localized severe attrition (Figure 4).[dimensionsofdentalhygiene.com]
Abnormal Teeth
  • Symptoms to look for in children: Abnormal teeth Abnormal nails Abnormal hair Skeletal manifestations Causes of TDO Syndrome TDO is caused by as mutation in the DLX3 gene on chromosome 17q21. A parent may pass the gene to a child.[nfed.org]
Small Teeth
  • There are two different subtypes with type I being distinguished from type II by the presence of a small head and increased density in the long bones Symptoms - Tricho-dento-osseous syndrome * Kinky hair * Small teeth * Widely spaced teeth * Pitted teeth[checkorphan.org]
Long Arm
  • Etiology The syndrome is caused by mutations in the distal-less homeobox gene ( DLX3 ), located on the long arm of chromosome 17 (17q21.3-q22).[rarediseases.info.nih.gov]
  • Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome17q21” refers to band 21 on the long arm of chromosome 17.[rarediseases.org]
  • DLX3 is located in a tail-to-tail configuration with another member of the gene family (DLX7) on the long arm of chromosome 17, and encodes a homeodomain protein.[ncbi.nlm.nih.gov]
Kinky Hair
  • Overview A rare genetic disorder characterized by kinky hair, tooth enamel and bone abnormalities.[checkorphan.org]
  • Curly/kinky hair is present at birth in around 80% of patients, but around half of these patients loose the hair phenotype by adolescence. The BMD measurements show increasing variability with age, particularly in the radius and ulna.[rarediseases.info.nih.gov]
  • It is characterized by curly and kinky hair at infancy that later straightens, absent mineralization of dental enamel , taurodontism and dental hypoplasia. Bone tends to be sclerotic bone and dense on radiograph and CT scan .[ipfs.io]
  • Skin, Nails, Hair Brittle nails Kinky hair in most newborns that becomes straight in about 50% of cases during childhood Skeletal Increased bone density, mild-moderate (skull, spine, long bones) Skull: abnormal shape of the calvaria (skullcap), that part[nfed.org]
  • The affected family members have sparse or curly/kinky hair at birth, markedly delayed or advanced dental maturity, defective tooth enamel and dentin, taurodontic molars, multiple dental abscesses and filling of tooth pulps with amorphous denticle-like[karger.com]
Lanugo
  • The disease is especially accentuated in one of the families in which the patients develop only lanugo-type hair and the dental abnormalities are severe.[karger.com]
  • The skin may be dry and pale, the hair fine and sparse (lanugo), and the nails dystrophic and brittle. The dentition exhibits varying degrees of hypodontia and abnormal development. The prevalence of ED is estimated at seven per 10,000 births.[dimensionsofdentalhygiene.com]
  • The clinical features were described as markedly severe in one of the families in which the affected members developed only lanugo-type hair and severe dental anomalies.[ncbi.nlm.nih.gov]
Skin Lesion
Low Self-Esteem
  • The complications of Tricho-Dento-Osseous Syndrome may include: Premature hair loss Loss of teeth Low self-esteem due to lack of hair and/or discolored teeth Complications may occur with or without treatment, and in some cases, due to treatment also.[dovemed.com]
Round Face
  • face * Brittle nails * Superficial nail peeling * Dense long bones * Thin nails * Premature nails * Thickened top portion of skull * Thin nails * Small head * Poorly pneumatized mastoids * Obliterated frontal sinuses * Undertubulated clavicles Causes[checkorphan.org]

Workup

Delayed Bone Age
  • bone age * Round face * Brittle nails * Superficial nail peeling * Dense long bones * Thin nails * Premature nails * Thickened top portion of skull * Thin nails * Small head * Poorly pneumatized mastoids * Obliterated frontal sinuses * Undertubulated[checkorphan.org]
  • bone age due to thyroid hormone metabolism deficiency Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-optic atrophy-Pelger-Huët anomaly syndrome SHORT syndrome Short/branched-chain acyl-coA dehydrogenase deficiency[csbg.cnb.csic.es]

Treatment

  • Extreme cases of sensitivity characterized by material or substance loss require invasive treatment such as placement of crowns, endodontic treatment, or tooth extraction [ 50 ].[ncbi.nlm.nih.gov]
  • […] department for initial and preventing treatments.[jdmt.mums.ac.ir]
  • Dean equips you with the latest diagnostic and treatment recommendations in the fast-growing field of pediatric dentistry.[books.google.com]
  • As the patient was anxious, the treatments were done under general nesthesia.[slda.lk]

Prognosis

  • (Outcomes/Resolutions) The prognosis of Tricho-Dento-Osseous 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[dovemed.com]
  • Prognosis The prognosis is good and there appearsto be no predisposition for developing fractures. Last updated: 1/22/2007[rarediseases.info.nih.gov]
  • All the treatment process and the prognosis of the teeth were explained to the patient’s parents and informed consent was taken.[jdmt.mums.ac.ir]
  • Prognosis - Tricho-dento-osseous syndrome Not supplied. Treatment - Tricho-dento-osseous syndrome Not supplied. Resources - Tricho-dento-osseous syndrome Not supplied.[checkorphan.org]

Etiology

  • Etiology The syndrome is caused by mutations in the distal-less homeobox gene ( DLX3 ), located on the long arm of chromosome 17 (17q21.3-q22).[rarediseases.info.nih.gov]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion. ( 23949819 ) Harbuz R....Gilbert-Dussardier B. 2013 5 Tricho-dento-osseous syndrome: diagnosis and dental management. ( 22969805 ) Al-Batayneh O.B. 2012 6 A dominant mutation etiologic[malacards.org]
  • (Etiology) Tricho-Dento-Osseous Syndrome is caused by mutation(s) in the DLX3 gene located on chromosome 17 The syndrome is inherited in an autosomal dominant manner Autosomal dominant mode of inheritance: Autosomal dominant conditions are traits or disorders[dovemed.com]

Epidemiology

  • Epidemiology The prevalence is unknown but the disease has been described in at least 8 families with over 30 affected members in some large kindreds.[rarediseases.info.nih.gov]
  • As per early epidemiologic investigations, Shapiro ( 7 ) suggested classification of TDO into three subtypes, TDO - I, II and III, based on clinical and radiographical features.[ncbi.nlm.nih.gov]
  • Relevant External Links for DLX3 Genetic Association Database (GAD) DLX3 Human Genome Epidemiology (HuGE) Navigator DLX3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: DLX3 No data available for Genatlas for DLX3 Gene Increased bone density[genecards.org]
  • Journal of dental research, 84(12): 1117-26 [ 2 ][ GS ] Sundell, S. (1986) Hereditary amelogenesis imperfecta: An epidemiological, genetic and clinical study in a Swedish child population.[scindeks.ceon.rs]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Italy Michela Brena, MD, Post-Graduate School of Dermatology and Venereology, University of Milan, Italy Carlo Gelmetti, MD, chairman of the Pediatric Dermatology Unit, Department of Pathophysiology[ebay.it]
  • Pathophysiology EGPA is a granulomatous small-vessel vasculitis.[emedicine.medscape.com]

Prevention

  • Clinical management of TDO is centered on preventing dental abscesses with stainless steel crowns and improving appearance with esthetic restorations.[ncbi.nlm.nih.gov]
  • […] department for initial and preventing treatments.[jdmt.mums.ac.ir]
  • More emphasis on preventative care and treatment of medically compromised patients helps you provide more effective care. NEW! Easier-to-follow design.[books.google.com]
  • Tricho-Dento-Osseous Syndrome may not be preventable, since it is a genetic disorder.[dovemed.com]

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