autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive

Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive (also known as AIPDS or otulipenia) is a very rare disorder that primarily affects multiple systems including the skin, joints, and overall immune regulation. This condition is caused by pathogenic variants in the OTULIN gene, which plays a critical role in controlling inflammatory responses. Affected individuals typically present in infancy with features such as failure to thrive, recurrent fever, and characteristic skin rashes. Although precise birth prevalence is not specified, the condition is considered very rare, affecting fewer than 1 in 1,000,000 people.

Patients with autoinflammation, panniculitis, and dermatosis syndrome commonly exhibit early-onset symptoms that include recurrent fever, skin rash, and panniculitis. Laboratory findings consistently reveal an increased total neutrophil count, elevated circulating C-reactive protein concentration, increased levels of circulating IgM and IgA, and a heightened total leukocyte count. In addition, nearly all affected individuals present with arthralgia, joint swelling, lipodystrophy, failure to thrive in infancy, and an increased CD4+ T cell proportion. A subset of patients may also experience abdominal pain, chronic diarrhea, lymphadenopathy, myalgia, or vasculitis. Not all individuals experience all features, and severity varies considerably.

Autoinflammation, panniculitis, and dermatosis syndrome is caused by pathogenic variants in the OTULIN gene, which is essential for regulating inflammation in the body. It is inherited in an autosomal recessive pattern, meaning that an affected individual has inherited two defective copies of the gene, one from each parent. This condition is more common when parents share a common ancestor, as there is an increased likelihood that both carry the rare genetic variant. Genetic counseling is recommended to help families understand inheritance risks and discuss options for family planning.

Currently, management focuses on supportive care and symptom management since there are no FDA-approved treatments for autoinflammation, panniculitis, and dermatosis syndrome. Treatment is tailored to the individual and typically involves a multidisciplinary team to address the diverse inflammatory and systemic features of the condition. Regular surveillance and monitoring by specialists are essential to detect potential complications early. Patients are encouraged to discuss available management strategies with their healthcare team and to consider genetic counseling to better understand the condition and its implications.

The course of autoinflammation, panniculitis, and dermatosis syndrome is highly variable, with outcomes differing based on the severity of symptoms, age at diagnosis, and access to specialized care. With current standards of care and routine surveillance, many individuals are able to manage their symptoms effectively, although some may experience more significant challenges over time. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists and genetic counselors to receive guidance and support as they navigate the condition.