Erythroderma Desquamativa of Leiner

Important
It is possible that the main title of the report Erythroderma Desquamativa of Leiner is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

• Erythroderma Desquamativum of Infancy
• Leiner-Moussous Desquamative Erythroderma
• Leiner Disease

Disorder Subdivisions

• None

Related Disorders List

Information on the following diseases can be found in the Related Disorders section of this report:

• Ritter disease
• Netherton syndrome
• Omenn syndrome
• Psoriasis

General Discussion

Erythroderma desquamativa of Leiner is a rare skin disorder that usually first appears during the end of the first month of life or the beginning of the second month. The disorder is characterized by the appearance of a reddish, thickened rash on various parts of an infant's body. Additional symptoms include chronic diarrhea and the failure to gain weight at the expected rate (failure to thrive). The exact cause of erythroderma desquamativa of Leiner is unknown.

Symptoms

The skin abnormalities associated with erythroderma desquamativa of Leiner resemble seborrheic dermatitis, a chronic inflammatory skin disease.

The initial symptom of erythroderma desquamativa of Leiner is the appearance of a thick, reddish rash. Redness (erythroderma) may be followed after a few days by crusty, dry, moist or greasy scaling or yellow, crusted patches of skin. In many cases, itching is often associated with the rash.

Additional symptoms associated with erythroderma desquamativa of Leiner include chronic diarrhea, failure to thrive and weight loss. Infants with erythroderma desquamativa of Leiner may also be more susceptible to infections and may experience repeated infections. The disorder may last from several weeks to several months.

Causes

The exact cause of erythroderma desquamativa of Leiner is unknown. Considerable debate and confusion as to the potential cause(s) and development of the disorder exists in the medical literature.

Some researchers believe that nutritional deficiencies such as biotin, a substance that is more prevalent in cow's milk than human milk, may play a role in the development of erythroderma desquamativa of Leiner. Researchers have also speculated that the disorder may be influenced by unknown toxic substances either passed to infants through breast milk or originating in their intestinal tracts.

In some cases, abnormalities of the immune system may also be a factor in the development of erythroderma desquamativa of Leiner. The specific immunological defect is a modification of blood complement C5, which governs the body's reaction to infection. The significance of this finding in relation to the disorder is not known.

Some cases of erythroderma desquamativa of Leiner may be inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.

In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

Affected Populations

Erythroderma desquamativa of Leiner is a rare disorder that usually affects infants during the first two months of life. According to the medical literature, breastfed infants seem to have a higher incidence of this disorder than those who are on formulas. Males and females are affected in equal numbers. More than 50 cases have been reported in the medical literature.

Erythroderma desquamativa of Leiner was first described by Dr. Carl Leiner in 1908. The disorder eventually became known as Leiner disease. Through the years, the term "Leiner disease" has been used to describe a wide spectrum of disorders associated with erythroderma, resulting in considerable confusion within the medical literature as to the proper usage of "Leiner disease." As a result, many physicians have suggested avoiding or abandoning the term "Leiner disease."

Related Disorders

Symptoms of the following disorders can be similar to those of erythroderma desquamativa of Leiner. Comparisons may be useful for a differential diagnosis:

Ritter disease (dermatitis exfoliativa neonatorum or neonatal staphylococcal scalded skin syndrome) is a rare skin disorder that affects infants and is usually caused by a bacterial infection. Reddened skin may peel leaving raw areas that heal in dry crusty yellow patches. This disorder may follow upper respiratory infections, impetigo, or other improperly treated skin infections. The exact cause of Ritter disease is unknown.

Netherton syndrome is a rare inherited skin disorder occurring almost exclusively in females. This disorder is characterized by scaling of the skin in a distinctive circular pattern (ichthyosis linearis circumflexa). Reddening (erythroderma) and thickening of the skin may also occur. Symptoms affecting the hair include hair shafts held back in the hair root (trichorrhexis invaginata) or a fragile hair condition, called "bamboo hair." Netherton syndrome is thought to be inherited as an autosomal recessive genetic trait. (For more information on this disorder, choose "Netherton" as your search term in the Rare Disease Database.)

Omenn syndrome is a rare immunodeficiency disorder associated with extremely excessive levels of certain white blood cells (eosinophils) in the blood (hypereosinophilia). The disorder is characterized by widespread reddening of the skin (erythroderma), chronic diarrhea, failure to thrive and/or an abnormally enlarged liver and/or spleen (hepatosplenomegaly). The exact cause or Omenn syndrome is unknown.

Psoriasis is a common skin disorder in adults; in some cases, it may affect infants. The disorder is characterized by sharply-outlined lesions. These lesions consist of red spots or plaques that are covered with overlapping silvery gray shiny scales that usually do not itch. These lesions sometimes extend and grow together, producing large plaques in ring or spiral patterns. Recurrent outbreaks tend to vary in frequency and duration. (For more information on this disorder, choose "Psoriasis" as your search term in the Rare Disease Database.)

Standard Therapies

The treatment of Leiner disease is symptomatic and supportive. Antibiotics, vitamins, and monitoring of fluid and food intake have been used to treat the disorder. In some cases, after a few weeks, redness and scaliness decrease with careful treatment and do not usually recur.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

References

McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:2271000; Last Update:2/18/99. Entry Number:256500; Last Update:11/9/99.

Behrman RE., ed. Nelson Textbook of Pediatrics, 15th ed. Philadelphia, PA: W.B. Saunders Company; 1996:1859.

Champion RH, et al., eds. Textbook of Dermatology. 5th ed. Cambridge, MA: Blackwell Scientific Publications; 1992:441-2.

Magalini SI, et al., eds. Dictionary of Medical Syndromes. 4th ed.New York, NY: Lippincott-Raven Publishers; 1997:481.

Buyce ML., ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: The Center for Birth Defects Information Services Inc; 1990:958.

Itani O, et al., Picture of the month. Ritter's disease (neonatal staphylococcal scalded skin syndrome). Am J Dis Child. 1992;146:425-6.

de Saint-Basile G, et al., Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome). J Clin Invest. 1991;87:1352-9.

Goodyear HM, et al., Leiner's disease associated with metabolic acidosis. Clin Exp Dermatol. 1989;14:364-6.

Glover MT, et al., Syndrome of erythroderma, failure of thrive, and diarrhea in infancy: a manifestion of immunodeficiency. Pediatrics. 1988;81:66-72.

Sonea MJ, et al., Leiner's disease associated with diminished third component of complement. Pediatr Dermatol. 1987;4:105-7.

Guenther L, et al., Inherited disorders of complement. J Am Acad Dermatol. 1983;9:815-39.

Evans DI, et al., Yeast opsonization defect and immunoglobulin deficiency in severe infantile dermatitis (Leiner's disease). Arch Dis Child. 1977;52:691-95.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/Health_Info

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)519-3194
Fax: (240)632-9164
Tel: (888)205-2311
TDD: (888)205-3223
Email: gardinfo@nih.gov
Internet: http://www.genome.gov/10000409

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  3/10/2008
Copyright  1987, 1989, 2000 National Organization for Rare Disorders, Inc.

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