- Elevated erythrocyte sedimentation rate (HP:0003565): An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. Evidence: PCS. Frequency: 1/2. (PMID:17357087)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:610448)
- Cutaneous photosensitivity (HP:0000992): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: PCS. Frequency: 0/3. (PMID:17357087)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. Frequency: 3/3. (PMID:17357087)
- Autoamputation of digits (HP:0007460): The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology. Evidence: PCS. Frequency: 1/3. (PMID:17357087)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/3. (PMID:17357087)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: PCS. Frequency: 2/2. (PMID:17357087)
- Raynaud phenomenon (HP:0030880). Evidence: PCS. Frequency: 0/3. (PMID:17357087)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/3. (PMID:17357087)
- Chilblains (HP:0009710): Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks. Evidence: PCS. Frequency: 3/3. (PMID:17357087)
- 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:17357087)
- Skin ulcer (HP:0200042): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: PCS. Frequency: 3/3. (PMID:17357087)
These phenotypes are associated with the disease chilblain lupus 1 (OMIM:610448).