This report illustrates the presence of a remarkable distribution of perivascular, presumably granulomatous, retinal lesions in the middle retina. [ncbi.nlm.nih.gov]

“When we took her in to see her primary care physician, he said it was eczema.” However, Makenna’s parents were not convinced by the doctor’s hasty diagnosis, so they consulted a dermatologist to get a biopsy. [childrensinn.org]

[…] have these symptoms is not available through HPO Abnormal cranial nerve morphology 0001291 Abnormality of the ear 0000598 Arthritis Joint inflammation 0001369 Autosomal dominant inheritance 0000006 Band keratopathy 0000585 Cystoid macular edema 0011505 Eczema [rarediseases.info.nih.gov]

STAT5b deficiency Modestly decreased Normal Normal Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstital pneumonitis AR Defects of STAT5B gene, impaired development and function of γδT cells, Treg and NK cells, impaired [ncbi.nlm.nih.gov]

Other times, a common skin condition such as psoriasis (pictured) or eczema might affect a person's appearance. But some folks have health conditions that result in permanently atypical skin. [cbsnews.com]

Gender (female:male) 13:9 Mean age at diagnosis 40.1 years (range 17-72) Mean disease duration 4.7 years (range 1-13) Ethnicity (white) 22/22 (100%) Familial 3/22 (13.6%) Weight loss 13/22 (59.1%) Fever 13/22 (59.1%) Skin disease 19/22 (86.4%) Arthritis/arthralgia [clevelandclinicmeded.com]

Joint pains There are often joint pains (arthralgias or arthritides), but generally NO tissue and cartilage changes can be seen on X rays. [autoinflammatory.org]

Corticosteroid treatment should be resumed for recurrence of symptoms and signs, including dyspnea, arthralgia, fever, hepatic insufficiency, cardiac arrhythmia, CNS involvement, hypercalcemia, ocular disease uncontrolled by local drugs, and disfiguring [merckmanuals.com]

Joint involvement: Large joints may be affected by arthritis or arthralgia in more than 50% of patients (chiefly knees, hips and ankles). These occur suddenly, and may be precipitated by minor trauma or effort, such as prolonged walking. [file.scirp.org]

Ömer Faruk Aydin and Banu Anlar, Neurological Manifestations of Primary Immunodeficiency Diseases, Clinical Pediatrics, 10.1177/0009922817737083, (000992281773708), (2017). Leonardo A. [doi.org]

manifestations have been reported in familial and sporadic cases, especially in the form of cranial neuropathies and transient facial palsy. 31 Recently, in a patient carrying a G481D mutation, in addition to transient facial palsy, ischaemic stroke [rmdopen.bmj.com]

RESULTS: Biopsy specimens from patients with BS typically showed polycyclic granulomas with large lymphocytic coronas, extensive emperipolesis of lymphocytes within multinucleated giant cells (MGCs), MGC death, and fibrinoid necrosis and fibrosis. [ncbi.nlm.nih.gov]

We report a 3.5-year-old Japanese boy who developed lichenoid papules and erythema with noncaseating epithelioid cell granulomas with a scant lymphocytic infiltrate histologically on his limbs at the age of 8 months. [ncbi.nlm.nih.gov]

Although HLA haplotypes do not appear to segregate with affected subjects, HLA-DR2 and HLA-DR4 subtypes may play a permissive role in phenotype expression. [ncbi.nlm.nih.gov]

Although HLA haplotypes do not appear to segregate with affected subjects, HLA-DR2 and HLA-DR4 subtypes may play a permissive role in phenotype expression. [ncbi.nlm.nih.gov]