Anhidrotic Ectodermal Dysplasia with Cleft Lip/Palates

Anhidrotic Ectodermal Dysplasia with Cleft Lip/Palates

Contributed byMaulik P. Purohit MD MPHApr 02, 2018

The topic Anhidrotic Ectodermal Dysplasia with Cleft Lip/Palates you are seeking is a synonym, or alternative name, or is closely related to the medical condition Rapp-Hodgkin Syndrome.

Quick Summary:

  • Rapp-Hodgkin Syndrome (RHS) is a genetic condition that belongs to a group of disorders known as ectodermal dysplasia (ED). These disorders are characterized by an abnormal development of the skin, hair, nails, teeth, and sweat glands
  • The affected individuals may experience hypohidrosis, which is a reduced ability to sweat, and other chronic skin conditions such as eczema. Additionally, the teeth of the individuals affected with Rapp-Hodgkin Syndrome may be absent or malformed
  • Rapp-Hodgkin Syndrome is a congenital condition, meaning that it is present at birth. It is caused by the inheritance of a mutated TP63 gene in an autosomal dominant pattern. Since RHS is a genetic condition, a positive family history of Rapp-Hodgkin Syndrome increases the risk of future generations being affected
  • A healthcare professional can diagnose Rapp-Hodgkin Syndrome with a physical exam and through analysis of one’s medical history. Additionally, molecular genetic testing and biopsies may be performed to aid in the diagnosis
  • The treatment of Rapp-Hodgkin Syndrome is symptomatic and supportive, as there is no cure for the condition. The prognosis is generally good with proper symptom management, but it is also dependent on the severity of the signs and symptoms

Please find comprehensive information on Rapp-Hodgkin Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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