exudates and Lupus-Erythematosus--Discoid

Cutaneous lupus erythematosus (CLE) is a chronic, autoimmune skin disease with a wide spectrum of clinical presentations in different populations.. To study the clinicohistological and immunological features of CLE in a multiethnic population and to identify the predictive factors of disease severity based on the Cutaneous Lupus Erythematosus Disease Area and Severity Index (CLASI).. This was a cross-sectional study of CLE conducted from March 2019 to February 2020.. In total, 111 patients were recruited with a female/male ratio of 4.9 : 1. Acute CLE contributed 47.7%, followed by chronic CLE at 46.9% and subacute CLE at 5.4%. A large majority (84%) of patients had systemic lupus erythematosus. Of patients with chronic CLE, about 67.3% developed systemic involvement. Antinuclear antibody (ANA) was detected in 90.0%. Skin biopsy was taken from 42 patients and showed perivascular lymphocytic infiltration (95.2%), epidermal atrophy (47.6%) and hydropic degeneration of the basal layer (47.6%). Immunoglobulin deposition at the dermoepidermal junction was seen in > 40% of patients, predominantly in a granular pattern. Mean CLASI Total was 6.44 ± 7.70, while CLASI Activity (CLASI-A) was 2.75 ± 4.10 and CLASI Damage (CLASI-D) was 3.71 ± 4.76. Involved body surface area (BSA) was found to be an independent predictive factor for CLASI-A (OR = 1.34, P < 0.02). For CLASI-D, positive predictive factors were involved BSA (OR = 4.14, P < 0.001), discoid lupus erythematosus subtype (OR = 13.10, P = 0.001), cutaneous vascular disease (OR = 26.59; P = 0.014), scalp involvement (OR = 8.7, P < 0.01) and hypocomplementaemia (OR = 5.71, P < 0.5). Mean Dermatology Life Quality Index was 5.91 ± 5.34 and correlated significantly with disease severity.. We observed a high percentage of patients with CLE with systemic manifestations and positive ANA result. More aggressive treatment of patients with positive predictive factors for severe disease combined with significant clinical activity may be warranted.

Topics: Cross-Sectional Studies; Dermatology; Female; Humans; Lupus Erythematosus, Cutaneous; Lupus Erythematosus, Discoid; Lupus Erythematosus, Systemic; Malaysia; Male; Severity of Illness Index

The most common autosomal form of Chronic Granulomatous Disease, p47-phox deficient CGD, generally features a GT (deltaGT) deletion in the GTGT sequence at the start of exon 2 on the NCF-1 gene. This consistency is due to the coexistence of and the recombination between 2 homologous pseudogenes (psi s) and NCF-1. The GTGT: deltaGT ratio mirrors the NCF-I: NCF-1 psi ratio and is 2:4 in normal individuals.. To determine the molecular basis of the Autosomal-CGD in a family with 2 children, a male and female, affected by the disease. The female patient suffered recurrent infection, retinitis pigmentosa and discoid lupus.. Chemiluminescence (CL) was used to study the respiratory burst, while genetic analysis was done by RT-PCR, PCR, deltaGT and the 20bp gene scans.. The CL response of the patient was profoundly low. The patient's p47-phox band was absent in the RT-PCR for NADPH-oxidase component mRNAs. The deltaGT scan showed that the patient's GTGT: deltaGT ratio was 0:6, the parents' and the younger brother's was 1:5 and the younger sister's was 2:4. Examination of other NCF-1/ NCF-1 psi s differences showed that the father had a compound deltaGT allele ie. deltaGT-20bp, inherited by the patient, and that both parents had compound GTGT alleles with a single 30bp segment in intron 1.. The patient was a classic, homozygous deltaGT p47-phox deficient CGD with one allele harbouring a compound deltaGT-20bp gene. The deltaGT and 20bp gene scans offer a relatively simple and efficient means of defining a p47-phox deficient CGD patient.

Topics: Adult; DNA Mutational Analysis; Family; Female; Granulomatous Disease, Chronic; Homozygote; Humans; Lupus Erythematosus, Discoid; Malaysia; Male; NADPH Oxidases; Pedigree; Pseudogenes; Retinitis Pigmentosa; Reverse Transcriptase Polymerase Chain Reaction; Sequence Deletion

Topics: Asian People; Biopsy, Needle; Diagnosis, Differential; Facial Dermatoses; Follow-Up Studies; Histiocytosis, Sinus; Humans; Immunohistochemistry; Laser Therapy; Lupus Erythematosus, Discoid; Malaysia; Male; Middle Aged; Risk Assessment; Time Factors; Treatment Outcome