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Ectodermal Dysplasia Follow-up

  • Author: Kara N Shah, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Feb 24, 2016
 

Complications

Note the following possible complications:

  • Patients with severe dental abnormalities or cleft lip and/or palate may develop feeding difficulties, which may result in malnutrition and failure to thrive.
  • Patients affected by anodontia may show shrinkage of the bone supporting the denture after long-term denture use.
  • Patients with anhidrosis/hypohidrosis are prone to hyperpyrexia and heat exhaustion.
  • Patients with chronic scalp dermatitis and erosions often develop recurrent bacterial and fungal skin infections.
  • Patients with abnormal mucous gland function may develop secondary infections, especially in the upper respiratory tract.
  • Patients with immunodeficiency are at risk for recurrent viral, bacterial, and fungal infections.
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Prognosis

The prognosis for most patients with ectodermal dysplasia is very good. Morbidity and mortality is related to the absence or dysfunction of eccrine and mucous glands. Beyond early childhood, life expectancy ranges from normal to slightly reduced.

If hypohidrosis is recognized in the neonatal period and managed appropriately, no evidence indicates that the life span for a person diagnosed with one of the common types of ectodermal dysplasia is shorter than average. Intermittent hyperpyrexia may occur in infants with decreased sweating. The mortality rate approaches 30%. Recurrent high fever may also lead to seizures and neurological sequelae.

Pharyngitis, rhinitis, cheilitis, and dysphagia may result from reduced numbers of functional mucous glands in the respiratory and gastrointestinal tracts.

Growth failure is common.[17]

Severe inflammatory scalp dermatitis with erosions may result in frequent infections and cause scarring alopecia in patients with AEC (Hay-Wells) syndrome and Rapp-Hodgkin syndrome.

Life span can be affected in some rare types of ectodermal dysplasia. For example, patients with ectodermal dysplasia with immunodeficiency are at risk for significant morbidity and mortality related to recurrent infections and failure to thrive.

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Patient Education

Provide early guidance about temperature regulation, acceptable activities, and the risk of hyperpyrexia from febrile illnesses. Inform patients and families that antipyretics are not effective in treating hyperpyrexia associated with hypohidrosis. Instruct caregivers on proper skin care and monitoring for signs of infection in patients with chronic scalp dermatitis and erosions.

Additional information and support for families is available through the National Foundation for Ectodermal Dysplasias.

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Contributor Information and Disclosures
Author

Kara N Shah, MD, PhD Associate Professor, Departments of Pediatrics and Dermatology, University of Cincinnati College of Medicine; Medical Director, Pediatric Dermatology, Cincinnati Children's Hospital

Kara N Shah, MD, PhD is a member of the following medical societies: American Academy of Dermatology, American Academy of Pediatrics, Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Wells, MD, FAAD Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Van Perry, MD Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Jean Paul Ortonne, MD Chair, Department of Dermatology, Professor, Hospital L'Archet, Nice University, France

Jean Paul Ortonne, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous Chief Editor, William D. James, MD, and previous author, Carola Duran-McKinster, MD, to the development and writing of this article.

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A newborn boy with anhidrotic/hypohidrotic ectodermal dysplasia syndrome showing generalized fine scaling and a history of intermittent fever.
Wrinkled, hyperpigmented skin around the eyes and everted lips are typical characteristics of anhidrotic/hypohidrotic ectodermal dysplasia syndrome.
Typical cleft lip/palate and maxillary hyperplasia in a patient with Rapp-Hodgkin syndrome.
Abnormal hair shaft showing pili torti and a longitudinal groove (pili canaliculi) from a patient with Rapp-Hodgkin syndrome.
Hands of father and son with Rapp-Hodgkin syndrome. Nails have the same characteristics; they are brittle, thin, and dystrophic.
Ectodermal dysplasia, ectrodactyly, and clefting syndrome. Light-colored hair and scalp and earlobe defects are observed. Cleft lip and palate results in a characteristic nasal contour.
Ectrodactyly observed in an individual with ectodermal dysplasia, ectrodactyly, and clefting syndrome.
 
 
 
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