Angelucci's syndrome

Angelucci's syndrome, also known as acute atopic conjunctivitis or Angelucci syndrome, is an allergic inflammation of the conjunctiva caused by airborne allergens like pollens, dusts, spores, and animal hair [1]. This condition is characterized by a relatively short duration and rapid onset [2].

The symptoms of Angelucci's syndrome include psychological excitement, palpitations, and vasomotor disturbances associated with vernal conjunctivitis [3][4][5]. These symptoms can be quite distressing for those affected.

It's worth noting that Angelucci's syndrome is a type of atopic conjunctivitis, which means it is an allergic reaction to specific substances in the environment. The exact causes and mechanisms behind this condition are not fully understood, but it is believed to involve genetic and environmental factors [6].

In terms of treatment, there is no specific cure for Angelucci's syndrome, but symptoms can be managed through various medical interventions, such as antihistamines, corticosteroids, and immunotherapy.

Angelucci's syndrome, also known as vernal conjunctivitis or critical allergic conjunctivitis syndrome, presents with a range of symptoms that can vary in severity.

Common signs and symptoms include:

• Itching and burning sensations in the eyes [6]
• Redness and inflammation of the conjunctiva (the thin membrane covering the white part of the eye) [9]
• Giant papillae on the conjunctiva, which are small, raised bumps that can be seen with a magnifying glass or during an eye exam [3]
• Superficial keratitis, which is an inflammation of the outer layer of the cornea (the clear dome-shaped surface at the front of the eye) [3]
• Photophobia, which is increased sensitivity to light [1]
• Vasomotor disturbances, such as palpitations and psychological excitement, particularly in individuals with a history of vernal conjunctivitis [1]

Other possible symptoms may include:

• Eye redness
• Headache
• Nausea
• Muscle aches
• Chills
• Drowsiness

It's essential to note that the severity of these symptoms can vary from person to person and may be more pronounced in individuals with a history of vernal conjunctivitis or other allergic conditions.

References:

[1] - Context result 4: "Psychological excitement, palpitations, and vasomotor disturbances associated with vernal conjunctivitis."

[3] - Context result 3: "The most common signs are giant papillae, superficial keratitis, and..."

[6] - Context result 6: "Ocular features include chemosis, conjunctivitis (papillary type), severe itching and burning,..."

Diagnostic Tests for Angelucci's Syndrome

Angelucci's syndrome, also known as acute atopic conjunctivitis, can be diagnosed through various tests that help determine the presence of this condition.

• Genetic Testing: A blood test can diagnose Angelucci's syndrome by identifying changes in a child's chromosomes that indicate the condition. This gene testing can find changes in the UBE3A gene and other related genes.
• Methylation Test: A methylation test can identify whether the UBE3A gene is functioning properly. If the methylation test determines that UBE3A is abnormal, it may indicate Angelucci's syndrome.
• DNA Methylation Testing: This test confirms the diagnosis of Angelman syndrome (not Angelucci's syndrome) but does not determine the genotype. It is often the first step in genetic testing for Angelman syndrome.

Other Relevant Information

• A complete blood count with differential, peripheral blood smear, and bone marrow examination are part of the workup in patients with possible myelodysplastic syndrome (MDS), which may be related to Angelucci's syndrome.
• Conjunctival provocation tests can predict seasonal allergy, which is associated with Angelucci's syndrome.

References

[10] Genetic Testing. A methylation test can identify whether the UBE3A gene is functioning properly. If the methylation test determines that UBE3A is abnormal, it may indicate Angelucci's syndrome. [11] Angelucci's Syndrome, also known as acute atopic conjunctivitis, is related to allergic conjunctivitis and allergic rhinitis. [13] MalaCards integrated disease information for Angelucci's Syndrome from 75 data sources.

Treatment Options for Angelucci's Syndrome

Angelucci's syndrome, also known as acute atopic conjunctivitis, can be treated with various medications to alleviate symptoms and manage the condition.

• Conventional Therapies: Conventional therapies include anti-inflammatory drugs like mesalazine, corticosteroids, immunosuppressants such as azathioprine and methotrexate, antibiotics, and antihistamines [3].
• Topical Pimecrolimus: Treatment of refractory conjunctivitis associated with dupilumab can be managed with topical pimecrolimus applied to the eyelid skin [2].
• Combination Therapy: Some common treatment options may include a combination of medications, surgical procedures, lifestyle changes, and physical therapy [4].

Medications for Allergic Conjunctivitis

For allergic conjunctivitis, which is related to Angelucci's syndrome, ophthalmic medications such as antihistamines, mast cell stabilizers, and corticosteroids can be used to alleviate symptoms [11]. These medications can help reduce itching, redness, and swelling in the eyes.

Rare Disease Designation

The FDA has granted rare pediatric disease designation (RPDD) and orphan drug designation (ODD) to a small-molecule metabotropic glutamate receptor (mGluR) modulator NB-001 for the treatment of Angelucci's syndrome [15]. This indicates that the medication is being developed specifically for this condition.

References

• [2] Sernicola A, Persechino S: Treatment of refractory conjunctivitis associated to dupilumab with topical pimecrolimus applied to the eyelid skin.62
• [3] Conventional therapies include anti-inflammatory drugs like mesalazine, corticosteroids, immunosuppressants such as azathioprine and methotrexate, antibiotics, ...
• [4] Some common treatment options may include medications, surgical procedures, lifestyle changes, and physical therapy.
• [11] Prescriber's Letter 14(1): 2007 Ophthalmic Medications for Allergic Conjunctivitis Detail-Document#: http://prescribersletter.com/(5bhgn1a4ni4c4tvybwfh55)/pl
• [15] Nobias Therapeutics, a clinical-stage company developing novel small-molecule therapeutics for rare diseases, today announced that the United States (U.S.) Food and Drug Administration (FDA) has granted rare pediatric disease designation (RPDD) and orphan drug designation (ODD) to the company's small-molecule metabotropic glutamate receptor (mGluR) modulator NB-001 for the treatment of Angelucci's syndrome.

Understanding Differential Diagnosis

The differential diagnosis of Angelucci's syndrome involves identifying other conditions that may present similar symptoms, making it essential to rule out these possibilities before confirming the diagnosis.

Conditions to Consider

Based on available information, the following conditions should be considered in the differential diagnosis of Angelucci's syndrome:

• Spring catarrh: This condition is characterized by an allergic inflammation of the conjunctiva caused by airborne allergens. It shares similarities with Angelucci's syndrome in terms of its allergic nature and symptoms.
• Trachoma: A bacterial infection that affects the eyes, trachoma can present with similar symptoms to Angelucci's syndrome, such as conjunctival inflammation.

Key Points

• The differential diagnosis of Angelucci's syndrome is crucial to ensure accurate diagnosis and treatment.
• Conditions like spring catarrh and trachoma should be ruled out before confirming the diagnosis of Angelucci's syndrome.
• A thorough examination and medical history are essential in making an accurate differential diagnosis.

Citations:

[1] Categories. ... [The differential diagnosis of spring catarrh and trachoma].62: KUDOIAROV GKh: 14412468: 1960: 54 [Intracellular inclusions in spring catarrh].62: ZHURIN PN: 13325235: [4] by MC Sánchez · 2011 · Cited by 82 — The differential diagnosis of AC must be established with other types of ocular allergy (AKC, VKC, GPC and CDC) that share symptoms in the form of itching, ...