- Pustular rash (HP:0033605): A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils. Evidence: PCS. Frequency: 1/1. (PMID:38652464)
- Increased circulating interleukin 1beta concentration (HP:6000374): An increased concentration of interleukin-1beta in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:38652464)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: PCS. Frequency: 0/1. (PMID:38652464)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/2. (PMID:38630025)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: PCS. Frequency: 2/2. (PMID:38630025;PMID:38652464)
- Neonatal omphalitis (HP:0032435): An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period. Evidence: PCS. Frequency: 1/1. (PMID:38652464)
- Increased total neutrophil count (HP:0011897): Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 2/2. (PMID:38630025)
- Increased total monocyte count (HP:0012311): Abnormal increase of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 1/1. (PMID:38630025)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. Frequency: 2/2. (PMID:38630025;PMID:38652464)
- Panniculitis (HP:0012490): Inflammation of subcutaneous adipose tissue. Evidence: PCS. Frequency: 2/2. (PMID:38630025)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: PCS. Frequency: 1/1. (PMID:38630025)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 1/1. (PMID:38630025)
- Abscess (HP:0025615): An abscess is a localized collection of purulent material surrounded by inflammation and granulation. Evidence: PCS. Frequency: 1/1. (PMID:38630025)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/3. (PMID:38630025;PMID:38652464)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: PCS. Frequency: 1/1. (PMID:38630025)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: PCS. Frequency: 1/1. (PMID:38652464)
- Increased circulating interleukin 6 concentration (HP:0030783): The concentration of interleukin-6 in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:38652464)
- Erythema nodosum (HP:0012219): An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. Evidence: PCS. Frequency: 1/1. (PMID:38652464)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: PCS. Frequency: 1/1. (PMID:38630025)
- Elevated circulating C-reactive protein concentration (HP:0011227): The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:38630025)
- Endocarditis (HP:0100584): An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves. Evidence: PCS. Frequency: 1/1. (PMID:38630025)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: PCS. Frequency: 1/1. (PMID:38630025)
- Granuloma (HP:0032252): A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis. Evidence: PCS. Frequency: 1/1. (PMID:38652464)
- Fasciitis (HP:0100537): Inflammation of fascia, the tissue under the skin and over the muscle. Evidence: PCS. Frequency: 1/1. (PMID:38630025)
- Rheumatoid factor positive (HP:0002923): The presence in the serum of an autoantibody directed against the Fc portion of IgG. Evidence: PCS. Frequency: 0/1. (PMID:38652464)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. Frequency: 1/1. (PMID:38652464)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 1/1. (PMID:38630025)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 1/1. (PMID:38630025)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:38630025)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: PCS. Frequency: 1/1. (PMID:38630025)
These phenotypes are associated with the disease autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant (OMIM:621030).