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Rapp-Hodgkin Syndrome

Last updated Dec. 16, 2018

Approved by: Krish Tangella MD, MBA, FCAP

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.

What are the other Names for this Condition? (Also known as/Synonyms)

  • Anhidrotic Ectodermal Dysplasia with Cleft Lip/Palates
  • Rapp-Hodgkin Ectodermal Dysplasia Syndrome
  • RHS (Rapp-Hodgkin Syndrome)

What is Rapp-Hodgkin Syndrome? (Definition/Background Information)

  • 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

Who gets Rapp-Hodgkin Syndrome? (Age and Sex Distribution)

  • Rapp-Hodgkin Syndrome is a congenital condition, meaning that the signs and symptoms are present at birth
  • It affects both males and females of different racial and ethnic backgrounds
  • However, RHS is reported more in Caucasian males

What are the Risk Factors for Rapp-Hodgkin Syndrome? (Predisposing Factors)

  • A family history of Rapp-Hodgkin Syndrome is the biggest risk factor, since it is an inherited disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Rapp-Hodgkin Syndrome? (Etiology)

  • Rapp-Hodgkin Syndrome is a genetic disorder that is caused by mutations in the TP63 gene
  • The condition is inherited in an autosomal dominant manner

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Rapp-Hodgkin Syndrome?

Signs and symptoms of Rapp-Hodgkin Syndrome may vary between individuals and may include the following:

  • Hypohidrosis: Reduced ability to sweat due to having fewer or malfunctioning sweat glands. Individuals with Rapp-Hodgkin Syndrome may have decreased sweat gland density (than normal)
  • Hypotrichosis: Sparse scalp and body hair that is brittle and slow-growing; loss of hair
  • Hypodontia (absent teeth) or malformed teeth; teeth that are present tend to be small and pointed
  • Flattened nasal bridge and thick lips
  • Prominent forehead and cleft lip/palate
  • Chronic skin conditions, such as eczema, and foul-smelling discharge from the nose
  • Urinary bladder abnormalities
  • Webbing of the toes
  • Nail abnormalities
  • Drooping of eyelids, light sensitivity; frequent conjunctivitis
  • Frequent ear infections
  • Feeding difficulties
  • Speech difficulties

How is Rapp-Hodgkin Syndrome Diagnosed?

A healthcare professional can diagnose Rapp-Hodgkin Syndrome through the following:

  • Analysis of previous medical history and a complete physical exam
  • ENT, dental exam
  • Imaging studies (CT or MRI scans) to understand the extent of the defects
  • Molecular genetic testing for the mutated genes
  • Biopsy of mucous membranes or skin, to determine the density of the sweat glands in the tissue

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Rapp-Hodgkin Syndrome?

Complications of Rapp-Hodgkin Syndrome may include:

  • Hyperthermia (elevated body temperature) due to an inability to sweat in hot weather that can lead to life-threatening situations
  • High fever can lead to convulsions (febrile seizures)
  • Hearing loss
  • Hypospadias in males; an abnormal condition where the urethral (urinary) opening is not at the tip of the penis

How is Rapp-Hodgkin Syndrome Treated?

Currently, there is no cure available for Rapp-Hodgkin Syndrome. A team of healthcare professionals may be involved in treating individuals with RHS. The treatment is generally symptomatic and supportive and may include the following measures:

  • Using eye drops to prevent the drying of the eyes
  • Using a saline nose spray to prevent nasal infection
  • Speech therapy
  • Use of hearing aids
  • Correction of dental abnormalities; surgical correction of cleft palate
  • Take cool baths to prevent overheating of the body

How can Rapp-Hodgkin Syndrome be Prevented?

Currently, there are no specific methods or guidelines to prevent Rapp-Hodgkin Syndrome, since it is a genetic condition.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Rapp-Hodgkin Syndrome
  • Avoiding strenuous physical activities or exercises is advisable

What is the Prognosis of Rapp-Hodgkin Syndrome? (Outcomes/Resolutions)

  • The prognosis for Rapp-Hodgkin Syndrome is generally good, but it also depends upon the severity of the signs and symptoms and on how well the condition is treated/managed
  • Individuals who take active measures to prevent overheating of the body generally have a better prognosis that those who do not take such measures
  • The condition is not life-threatening and does not shorten life-spans, although it will be present throughout the individual's lifetime

Additional and Relevant Useful Information for Rapp-Hodgkin Syndrome:

Current research indicates that Rapp-Hodgkin Syndrome forms part of a wide spectrum of conditions that mainly includes ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC), which is also caused by mutations in the TP63 gene.

What are some Useful Resources for Additional Information?

References and Information Sources used for the Article:

Helpful Peer-Reviewed Medical Articles:

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Nov. 7, 2016
Last updated: Dec. 16, 2018