Odontoonychodermal dysplasia

Medical condition
Odontoonychodermal dysplasia
Autosomal recessive - en.svg
Specialty 22Medical genetics
Preventionnone
Frequencyrare

Odontoonychodermal dysplasia is a rare genetic disorder which is characterized by systemic abnormalities of the teeth, the nails of the fingers and toes, the skin, the hair cells, and the sweat glands. It is a type of syndromic ectodermal dysplasia.

Signs and symptoms

Individuals with this condition typically have the following symptoms: complete absence of both the deciduous and permanent teeth, cone-shaped canines and incisors, generalized dysplasia of the nails, palmoplantar hyperkeratosis, chronic skin dryness, and variable degrees of both hypotrichosis and either hyperhidrosis or hypohidrosis.[1][2]

Complications

The oligodontia associated with this condition results in both functional/mechanical and cosmetic problems.[3]

Hyperhidrosis can increase one's susceptibility to infections and might cause problems with oneself's self esteem.[4]

Hypohidrosis can result in a higher risk for suffering from heat-related illness, such as heat stroke.[5]

Genetics

This condition is caused by homozygous mutations of the WNT10A gene, located in the second chromosome. These mutations are inherited in an autosomal recessive manner, which means that for a child to be born with the condition, they must inherit two copies of a mutation from both parents.[6]

Diagnosis

This condition can be diagnosed through symptomatic examination and genetic testing.[7]

Treatment

Treatment is focused on the symptoms

Epidemiology

According to OMIM, around 30 cases from families in Lebanon, Germany, Turkey, and India have been described in medical literature.[8]

History

This condition was first discovered in 1983 by Fadhil et al. when they described 3 incestuous Muslim Shiite sibships from a family in Lebanon. Of the 24 children produced in these sibships, 7 were affected with what they (the researchers) a thought to be a novel ectodermal dysplasia syndrome, said children had nail dystrophy, peg-shaped incisors, erythematous facial lesions, hyperhidrotic palms and soles with thickened skin, dry sparse hair, and eyebrow thinning.[9]

In 2007, Adaimy et al. found the molecular cause for this condition in affected members of 3 consanguineous Muslim Shiite families in Lebanon: they found a homozygous mutation in the WNT10A gene that was shared by all of the affected family members, said mutation resulted in a short, prematurely terminated protein of 232 amino acids instead of the usual amount of 417. Of the three families, two had been previously described in medical literature.[10]

See also

References

  1. ^ "Odontoonychodermal dysplasia - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-08-17.
  2. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Odonto onycho dermal dysplasia". www.orpha.net. Retrieved 2022-08-17.
  3. ^ Nubulus, Erik (2022-05-31). "What are the consequences of missing teeth for your health?". Clinic Dr. Vilar. Retrieved 2022-08-17.
  4. ^ "Hyperhidrosis - Symptoms and causes". Mayo Clinic. Retrieved 2022-08-17.
  5. ^ "What Is Hypohidrosis?". WebMD. Retrieved 2022-08-17.
  6. ^ "Entry - *606268 - WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A; WNT10A - OMIM". omim.org. Retrieved 2022-08-17.
  7. ^ "odontoonychodermal dysplasia Archives - NFED". National Foundation for Ectodermal Dysplasias. Retrieved 2022-08-17.
  8. ^ "Entry - #257980 - ODONTOONYCHODERMAL DYSPLASIA; OODD - OMIM". omim.org. Retrieved 2022-08-17.
  9. ^ Fadhil, M.; Ghabra, T. A.; Deeb, M.; Der Kaloustian, V. M. (February 1983). "Odontoonychodermal dysplasia: a previously apparently undescribed ectodermal dysplasia". American Journal of Medical Genetics. 14 (2): 335–346. doi:10.1002/ajmg.1320140213. ISSN 0148-7299. PMID 6837628.
  10. ^ Adaimy, Lynn; Chouery, Eliane; Megarbane, Hala; Mroueh, Salman; Delague, Valerie; Nicolas, Elsa; Belguith, Hanen; de Mazancourt, Philippe; Megarbane, Andre (October 2007). "Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia". American Journal of Human Genetics. 81 (4): 821–828. doi:10.1086/520064. ISSN 0002-9297. PMC 1973944. PMID 17847007.