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otulipenia

Description

Otulipenia: A Rare Inflammatory Disease

Otulipenia is a rare and sometimes lethal inflammatory disease that affects young children. The condition is characterized by abnormal inflammation throughout the body, which can lead to various symptoms.

  • Symptoms: Otulipenia causes fever, skin rashes, diarrhea, and joint pain in affected individuals [2][3][4].
  • Immune System Response: Inflammation is a normal immune system response to injury and foreign invaders, but in the case of otulipenia, it becomes dysregulated and leads to tissue damage [1].
  • Causes: Otulipenia is caused by germline mutations that lead to dysregulated ubiquitination, which affects the body's natural response to inflammation [6][9].

Key Characteristics

  • Rare Disease: Otulipenia is a rare inflammatory disease, and its exact prevalence is unknown.
  • Young Children Affected: The condition primarily affects young children, who are more susceptible to severe symptoms.
  • Autoinflammatory Disease: Otulipenia is classified as an autoinflammatory disease, where the immune system attacks the host's own tissues.

References

[1] Dec 1, 2016 - Otulipenia is characterized by abnormal inflammation throughout the body. Inflammation is a normal immune system response to injury and foreign invaders. [2] Aug 22, 2016 - The just-discovered otulipenia is a rare and sometimes lethal inflammatory disease that causes fever, skin rashes, diarrhea and joint pain in young children. [3] Sep 3, 2016 - The just-discovered otulipenia is a rare and sometimes lethal inflammatory disease that causes fever, skin rashes, diarrhea and joint pain in ... [4] Aug 22, 2016 - The just-discovered disease is a rare and sometimes lethal inflammatory disease that causes fever, skin rashes, diarrhea and joint pain in young children. [5] Aug 22, 2016 - The just-discovered otulipenia is a rare and sometimes lethal inflammatory disease that causes fever, skin rashes, diarrhea and joint pain ... [6] Oct 24, 2016 - A second human inflammatory disease, otulipenia, caused by germline mutations that leads to dysregulated ubiquitination. [7] Otulipenia. Definition, An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful ... [8] Otulipenia is one of several inflammatory diseases that occur when the immune system attacks the host's own tissues. Inflammation is the body's natural response ... [9] by Q Zhou · 2016 · Cited by 239 — Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. Qing Zhou, Xiaomin Yu, Erkan Demirkaya ...

Additional Characteristics

  • rare and sometimes lethal inflammatory disease
  • abnormal inflammation throughout the body
  • fever, skin rashes, diarrhea, and joint pain in affected individuals
  • germline mutations that lead to dysregulated ubiquitination
  • young children are more susceptible to severe symptoms
  • autoinflammatory disease where the immune system attacks the host's own tissues

Signs and Symptoms

Common Signs and Symptoms of Otulipenia

Otulipenia, an autoinflammatory disease, presents with a range of symptoms that can vary in severity and frequency. The signs and symptoms of otulipenia typically begin within the first few weeks of life and may include:

  • Fever: Recurring episodes of fever are a hallmark symptom of otulipenia [1][3][7].
  • Diarrhea: Diarrhea is another common symptom, often accompanied by abdominal pain [1][4][9].
  • Painful, swollen joints: Joint pain and swelling can occur due to inflammation [3][7].
  • Skin rashes: Skin rashes, including pustular and scarring rashes, are a characteristic feature of otulipenia [2][5][8].
  • Failure to thrive: Children with otulipenia may experience failure to grow or gain weight at the expected rate due to chronic inflammation [3][9].

In some cases, additional symptoms such as lymphadenopathy (enlarged lymph nodes) and vasculitis (inflammation of blood vessels) have been reported [9]. It's essential for parents or caregivers to seek medical attention if they suspect otulipenia in a child.

References: [1] Dec 1, 2016 — Signs and symptoms of otulipenia usually begin within the first few weeks of life, with recurring episodes of fever; diarrhea; painful, swollen ... [2] Disorders such as otulipenia that result from abnormally increased inflammation are known as autoinflammatory diseases. Signs and symptoms of otulipenia ... [3] Aug 22, 2016 — ... symptoms: fever, skin rashes, diarrhea, joint pain and overall failure to grow or thrive. Otulipenia is caused by the malfunction of OTULIN ... [4] Signs and symptoms of otulipenia usually begin within the first few weeks of ... The excessive inflammation that results causes fever, diarrhea, panniculitis, and ... [5] Signs and symptoms of otulipenia usually begin within the first few weeks of ... The skin rashes are due to inflammation of the layer of fatty tissue under the ... [6] Signs and symptoms of otulipenia usually begin in the first weeks of life ... Excessive inflammation is responsible for the signs and symptoms of otulipenia and ... [7] Signs and symptoms of otulipenia usually begin within the first few weeks of life, with recurring episodes of fever; diarrhea; painful, swollen joints; and skin ... [8] Oct 24, 2016 — Patient 2 presented at the age of 4.5 months with prolonged fevers and pustular, scarring rashes. Patient 3 presented with neonatal onset fever, ... [9] Oct 14, 2024 — Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated ...

Additional Symptoms

Diagnostic Tests

Diagnostic Tests for Otulipenia

Otulipenia, also known as autoinflammatory syndrome related OTULIN, is a genetic condition characterized by abnormal inflammation throughout the body. Diagnostic tests are essential to confirm the presence of this rare and sometimes lethal inflammatory disease.

  • Next-Generation Sequencing (NGS) Test: This test utilizes NGS to detect single nucleotide and copy number variants in 117 genes associated with autoinflammatory disorders [9]. The NGS test is a comprehensive diagnostic tool that can identify genetic mutations responsible for otulipenia.
  • Genetic Testing: Genetic testing involves analyzing DNA samples from various sources, such as:
    • Amniotic fluid
    • Bone marrow
    • Buccal swab
    • Cell culture
    • Chorionic villi
    • Cord blood
    • Dried blood spot (DBS) card [5, 8]
  • Lab Work: Lab work may be ordered to detect the presence of inflammation and to rule out other mimicking conditions such as chronic infections, autoimmune diseases, or malignancies [10].

These diagnostic tests are crucial for confirming a diagnosis of otulipenia. Early detection and accurate diagnosis can lead to timely intervention and management of this rare condition.

References: [5] [8] [9] [10]

Additional Diagnostic Tests

  • Genetic Testing
  • Next-Generation Sequencing (NGS) Test
  • Lab Work

Treatment

Treatment Options for Otulipenia

Otulipenia, a rare inflammatory disease, requires targeted treatment to manage its symptoms and prevent complications. According to recent research [1][2], the primary treatment approach involves anti-inflammatory therapies.

  • Anti-Tumor Necrosis Factor (TNF) Inhibitors: These medications have been found to be effective in reducing inflammation in patients with otulipenia [3]. TNF inhibitors, such as those used to treat autoimmune diseases like rheumatoid arthritis, can help alleviate symptoms like fever, skin rashes, diarrhea, and joint pain.
  • Targeted Cytokine Therapies: Treatment with targeted cytokine therapies, specifically IL-1 or TNF inhibitors, has been shown to attenuate systemic inflammation in patients with otulipenia [4].
  • Corticosteroid Treatment: Corticosteroids may also be used in conjunction with anti-inflammatory treatments to help manage symptoms and promote wound recovery [5].

It's essential for individuals with otulipenia to work closely with their healthcare providers to determine the most effective treatment plan, as each patient's response to therapy may vary.

References:

[1] Aug 22, 2016 — They have also identified anti-inflammatory treatments that ease some of the patients' symptoms: fever, skin rashes, diarrhea, joint pain and ...

[2] Sep 3, 2016 — Inflammation subsided in the children who had been treated with anti-tumor necrosis factor drugs (TNF inhibitors).

[3] Treatment with targeted cytokine therapies, namely IL-1 or TNF inhibitors, attenuates systemic inflammation in these patients.

[4] Dec 1, 2016 — Otulipenia is characterized by abnormal inflammation throughout the body. Explore symptoms, inheritance, genetics of this condition.

[5] by S Davidson · 2024 · Cited by 3 — Along with corticosteroid treatment, antibiotics were essential to wound recovery, consistent with bacterial invasion contributing to his ...

Recommended Medications

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Differential Diagnosis

Differential Diagnosis of Otulipenia

Otulipenia, also known as OTULIN-related autoinflammatory syndrome (ORAS), is a rare genetic disorder characterized by abnormal inflammation throughout the body. When diagnosing otulipenia, it's essential to consider other conditions that may present with similar symptoms.

Conditions to Consider:

  • Proteasome-associated autoinflammatory syndrome (PRAAS): This condition shares many clinical manifestations with otulipenia, including erythematous lesions, panniculitis, and dermatosis. [9]
  • Autoinflammation, Panniculitis, and Dermatosis Syndrome (AIPDS): Also known as proteasome-associated autoinflammatory syndrome, this condition has overlapping symptoms with otulipenia, including abnormal inflammation throughout the body. [5]
  • Familial Mediterranean Fever (FMF): This hereditary periodic fever syndrome can present with similar symptoms to otulipenia, such as recurrent fevers and joint pain. [8]
  • DADA2: Another hereditary periodic fever syndrome that may be considered in the differential diagnosis of otulipenia due to overlapping symptoms like erythematous lesions and panniculitis. [7]

Key Differences:

While these conditions share some similarities with otulipenia, there are distinct differences in their clinical presentations and underlying causes.

  • Genetic mutations: Otulipenia is caused by recessive loss-of-function mutations in the OTULIN gene, whereas PRAAS is associated with mutations in the PSMB8 gene. [2]
  • Clinical manifestations: Otulipenia typically presents with abnormal inflammation throughout the body, while PRAAS and AIPDS are characterized by erythematous lesions, panniculitis, and dermatosis. [5][9]

Conclusion:

In conclusion, when diagnosing otulipenia, it's crucial to consider other conditions that may present with similar symptoms. By understanding the key differences between these conditions, healthcare professionals can provide accurate diagnoses and develop effective treatment plans for patients.

References:

[1] by J Zinngrebe · 2022 · Cited by 21 [2] by I Kone-Paut · 2019 · Cited by 27 [3] by RB Damgaard · 2019 · Cited by 98 [4] by RB Damgaard · 2019 · Cited by 98 [5] Summaries for Autoinflammation, Panniculitis, and Dermatosis Syndrome ... [6] by I Kone-Paut · 2019 · Cited by 27 [7] Comparisons may be useful for a differential diagnosis. ... [8] Apr 14, 2023 — The differential diagnoses of NOMID/CINCA include Still disease and other hereditary periodic fever syndromes (HPFSs), especially MWS and ... [9] by P Tao · 2021 · Cited by 16 [10] by I Figueras-Nart · 2019 · Cited by 45

Additional Differential Diagnoses

Additional Information

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