A fatal case of hemophagocytic lymphohistiocytosis due to neonatal lupus erythematosus.

Neonatal lupus erythematosus (NLE) is an autoimmune disease caused by the passive transfer of autoantibodies from mother to child during pregnancy. A rare complication of NLE is hemophagocytic lymphohistiocytosis (HLH), a potentially life-threatening hyperinflammatory state more commonly associated with other rheumatologic disorders. Herein, we describe a fatal case of NLE-associated HLH.

Dermatosis Papulosa Nigra: A Quality of Life Survey Study.

Background: Dermatosis papulosa nigra (DPN) is a skin condition characterized by pigmented sessile and pedunculated papules on the body, particularly on the face and other sun-exposed areas, that can cause cosmetic disfigurement and varying degrees of distress and psychosocial concern among patients. Objective: We sought to evaluate the effect of DPN on quality of life (QoL). Methods: A 39-item questionnaire was administered to 50 African-American (AA) adults, 48 women and two men, with an average age of 51.7 years and visible DPN lesions at a dermatology clinic. We collected demographic information, family history, prior treatment, as well as type(s), frequency, duration of lesions, and attitudes about lesions. Dermatologic QoL (DLQI) survey scores were used to quantify the effect that DPN had on QoL. RESULTS: Most subjects reported lesions on the face (86%); 49 percent reported between 10 to 30 lesions on the body. The average age of diagnosis was 44.7 years (±15.51 years). Further, 84 percent of subjects reported having a firstdegree relative with DPN. Most patients reported little to no symptoms from their DPN (82%), while 36 percent had previously visited a physician due to their DPN. Electrocautery and cryosurgery were the most common methods of DPN removal. All subjects who had their DPN lesions removed reported improvement in the appearance of their skin. The average (standard deviation) DLQI score was six points (±5.42 points), which indicates that DPN has a moderate effect on QoL. Conclusion: Our study results reveal the high likelihood of a family history of DPN in subjects with the condition. Overall, most subjects reported few symptoms of DPN and their QoL was only moderately affected by DPN. Still, patients might benefit from the removal of DPN lesions.

Variant PADI3 in Central Centrifugal Cicatricial Alopecia.

BACKGROUND: Central centrifugal cicatricial alopecia (CCCA) is the most common form of scarring alopecia among women of African ancestry. The disease is occasionally observed to affect women in families in a manner that suggests an autosomal dominant trait and usually manifests clinically after intense hair grooming. We sought to determine whether there exists a genetic basis of CCCA and, if so, what it is. METHODS: We used exome sequencing in a group of women with alopecia (discovery set), compared the results with those in a public repository, and applied other filtering criteria to identify candidate genes. We then performed direct sequencing to identify disease-associated DNA variations and RNA sequencing, protein modeling, immunofluorescence staining, immunoblotting, and an enzymatic assay to evaluate the consequences of potential etiologic mutations. We used a replication set that consisted of women with CCCA to confirm the data obtained with the discovery set. RESULTS: In the discovery set, which included 16 patients, we identified one splice site and three heterozygous missense mutations in PADI3 in 5 patients (31%). (The approximate prevalence of the disease is up to 5.6%.) PADI3 encodes peptidyl arginine deiminase, type III (PADI3), an enzyme that post-translationally modifies other proteins that are essential to hair-shaft formation. All three CCCA-associated missense mutations in PADI3 affect highly conserved residues and are predicted to be pathogenic; protein modeling suggests that they result in protein misfolding. These mutations were found to result in reduced PADI3 expression, abnormal intracellular localization of the protein, and decreased enzymatic activity - findings that support their pathogenicity. Immunofluorescence staining showed decreased expression of PADI3 in biopsy samples of scalp skin obtained from patients with CCCA. We then directly sequenced PADI3 in an additional 42 patients (replication set) and observed genetic variants in 9 of them. A post hoc analysis of the combined data sets showed that the prevalence of PADI3 mutation was higher among patients with CCCA than in a control cohort of women of African ancestry (P = 0.002 by the chi-square test; P = 0.006 by Fisher's exact test; and after adjustment for relatedness of persons, P = 0.03 and P = 0.04, respectively). CONCLUSIONS: Mutations in PADI3, which encodes a protein that is essential to proper hair-shaft formation, were associated with CCCA. (Funded by the Ram Family Foundation and others.).

Coping Mechanisms and Resources for Patients Suffering from Rosacea.

Rosacea has significant quality of life impact. The authors review the literature and Internet sources pertaining to rosacea to identify coping mechanisms and resources available to rosacea patients. MEDLINE and PsycINFO databases were searched to identify pertinent articles. The term "rosacea" was searched in combination with "patient resources," "coping," "dealing with," "blog," "forum," "support," "nonpharmacologic," and "psychological." There are several social and educational coping resources available to rosacea patients. These may optimize quality of life and psychosocial outcomes in patients with rosacea.

Obesity in Women: The Clinical Impact on Gastrointestinal and Reproductive Health and Disease Management.

Approximately 36% of adult women in the United States are obese. Although obesity affects women similarly to men in terms of prevalence, there seem to be gender-specific differences in the pathophysiology, clinical manifestations, and treatment of obesity. Obesity is linked to comorbid diseases involving multiple organ systems, including the gastrointestinal tract, like gastroesophageal reflux disease, fatty liver disease, and gallstones. This article focuses on obesity in women, specifically the impact of obesity on gastrointestinal diseases and reproductive health, as well as the treatment of obesity in women.