Leiner's disease

Overview

Leiner’s disease, also known as Leiner’s erythroderma, is a rare and severe dermatological condition that primarily affects infants. It is characterized by generalized exfoliative dermatitis (widespread redness and peeling of the skin), persistent diarrhea, failure to thrive, and recurrent infections. The condition typically appears within the first few months of life and may be life-threatening if not promptly treated. While the exact cause remains unclear, it has been linked to immune system dysfunction, particularly involving deficiencies in the complement system or biotin metabolism.

Causes

The exact etiology of Leiner’s disease is not fully understood, but several contributing factors have been identified:

• Complement C5 deficiency – an inherited immune deficiency affecting the body's ability to fight infections

• Biotin deficiency or biotinidase deficiency – which impairs fatty acid metabolism and skin health

• Malnutrition – particularly in breastfed infants with underlying metabolic or absorption issues

• Immunological abnormalities – such as impaired neutrophil function or immunoglobulin deficiency

The condition may be more common in infants with a family history of immune dysfunction or in consanguineous families where recessive genetic traits are more likely to appear.

Symptoms

Leiner’s disease typically presents in the first few weeks or months of life and may include a range of systemic and skin-related symptoms:

• Severe seborrheic dermatitis – thick, greasy, yellowish scales over the scalp and face

• Generalized erythroderma – redness and scaling of the entire body

• Persistent diarrhea

• Failure to thrive – poor weight gain and developmental delays

• Recurrent infections – especially respiratory and gastrointestinal

• Hair loss (alopecia) – in severe cases

• Irritability and lethargy

Diagnosis

Diagnosing Leiner’s disease involves a combination of clinical evaluation, laboratory tests, and ruling out other conditions with similar presentations. Diagnostic steps may include:

• Clinical examination – assessment of skin condition, growth parameters, and overall health

• Blood tests – to evaluate immune function, complement levels (especially C5), and nutritional status

• Stool analysis – to assess for malabsorption or infections contributing to diarrhea

• Biotinidase activity test – to rule out biotin deficiency

• Skin biopsy – in uncertain cases, may show non-specific inflammatory findings

Early diagnosis is essential to prevent complications and initiate supportive therapy.

Treatment

Treatment of Leiner’s disease is supportive and aimed at correcting underlying deficiencies, controlling infections, and improving nutrition. Common treatment strategies include:

• Nutritional support – including supplementation with biotin if deficient

• Topical therapies – emollients and mild corticosteroids to soothe and protect the skin

• Systemic antibiotics or antifungals – to treat or prevent infections

• Immunoglobulin therapy – in cases with confirmed immune deficiency

• Complement replacement (experimental) – under research for complement C5 deficiency

• Close monitoring and multidisciplinary care – involving dermatology, immunology, and nutrition specialists

Prognosis

The prognosis of Leiner’s disease depends on the severity of the condition, the underlying cause, and the timeliness of treatment. With early diagnosis and proper management, many infants can recover and thrive. However, in untreated or severe cases, the condition can lead to serious complications including sepsis, multi-organ failure, and death. Long-term outcomes are generally good in cases related to biotin deficiency, especially when supplementation is started early. Regular follow-up is important to monitor growth, development, and immune function.