Leiner Disease (Erythroderma Desquamativum)

What Leiner disease is

Leiner disease was first described in 1908 as a severe, generalized form of infant seborrheic dermatitis with systemic illness. Later research linked many cases to a dysfunction of complement component C5, part of the immune system that helps white cells fight bacteria. Today, doctors recognize that the Leiner phenotype can be produced by several conditions, especially primary immunodeficiencies such as:

• complement defects (C3, C5)
• severe combined immunodeficiency (SCID) and Omenn syndrome
• hyper-IgE syndromes
• other inborn errors of immunity

It can also occur with severe seborrheic dermatitis and with nutritional deficiencies, such as zinc or biotin deficiency.

Symptoms

• erythroderma: red, inflamed skin over most of the body
• greasy or dry scaling and peeling, often starting on the scalp (cradle cap) and in the diaper area, then spreading
• severe diarrhea
• failure to thrive: poor weight gain or weight loss
• recurrent infections: skin, ear, chest and bloodstream infections, oral thrush
• hair loss
• irritability, fever or low body temperature

How it differs from ordinary infant skin conditions

Diagnosis

A pediatric dermatologist and immunologist usually work together. Tests may include:

• full blood count with differential, looking at lymphocytes and eosinophils
• immunoglobulin levels (IgG, IgA, IgM, IgE)
• lymphocyte subsets and T-cell function
• complement studies (CH50, C3, C5)
• zinc, biotin and other nutritional levels
• cultures for infection
• skin biopsy
• genetic testing for inborn errors of immunity

Newborn screening for SCID, now done in all US states, may identify some cases early.

Treatment

• Skin care: gentle cleansing, bland emollients, mild topical anti-inflammatory and antifungal treatments, and careful temperature control because erythrodermic skin loses heat and fluid.
• Fluids and nutrition: correcting dehydration and electrolyte imbalance, specialized feeding, and replacing zinc or biotin when deficient.
• Infection treatment: prompt antibiotics or antifungals.
• Treating the underlying cause: - fresh frozen plasma was historically used to replace missing complement in C5 dysfunction - immunoglobulin replacement for antibody deficiencies - hematopoietic stem cell transplant for SCID, Omenn syndrome and some other severe immune deficiencies
• Isolation precautions and avoiding live vaccines until the immune status is known.

Outlook

Outlook depends on the underlying cause and how quickly it is treated. Babies with severe seborrheic dermatitis or nutritional deficiency usually recover fully. Those with severe immune deficiency can be cured by stem cell transplant if diagnosed early, but delays risk life-threatening infections.

Frequently asked questions

What is Leiner disease?

Leiner disease is a rare condition of young infants with widespread red, peeling skin, diarrhea, poor weight gain and frequent infections. It is now considered a pattern that can result from several underlying problems, most importantly primary immune deficiencies.

What causes Leiner disease?

It was originally linked to a defect in complement C5, an immune protein. Today it is recognized that various immune deficiencies, such as SCID and Omenn syndrome, severe seborrheic dermatitis, and nutritional deficiencies can produce the same picture.

How is Leiner disease different from cradle cap?

Cradle cap is a harmless, scaly rash on the scalp of healthy babies that clears on its own. Leiner disease involves red, scaly skin over most of the body in a baby who is unwell, with diarrhea, poor growth and infections. It needs urgent medical care.

Is Leiner disease contagious?

No. Leiner disease itself is not contagious. However, affected babies are prone to infections because of immune problems, so good hygiene and protecting them from sick contacts are important.

Can Leiner disease be cured?

It depends on the cause. When it results from severe seborrheic dermatitis or nutritional deficiency, babies usually recover completely with treatment. Immune deficiencies may require immunoglobulin replacement or a stem cell transplant, which can be curative when done early.