Nicholas Ross

Epidemiologic, Clinicopathologic, Diagnostic, and Management Challenges of Pityriasis Rubra Pilaris: A Case Series of 100 Patients

IMPORTANCE Pityriasis rubra pilaris (PRP) is a rare papulosquamous disorder with limited epidemiologic and clinicopathologic data. Little information is available on long-term outcomes, comorbidities, and treatment efficacy. OBJECTIVE To evaluate objective and subjective disease experience metrics from the perspectives of patients and clinicians. DESIGN, SETTING, AND PARTICIPANTS One hundred patients with a putative diagnosis of PRP and who elected to participate completed a comprehensive survey, followed by acquisition of their medical records, including histopathology slides and reports. The data were analyzed separately from the health care clinician and the patient perspectives. Two academic dermatologists examined clinical notes, pathology reports, and photographs, confirming diagnoses via predetermined criteria. Patients were categorized into 4 levels of diagnostic certainty to allow stratification of the findings for subgroup analysis. Patients with a diagnosis of PRP were solicited through patient support organization websites. MAIN OUTCOMES AND MEASURES Clinical outcomes, unexpected association of comorbidities, and efficacy (or lack of it) of various treatment modalities. RESULTS Among the 100 patients, 50 were diagnosed as having classic, unquestionable PRP. The patients were a median of 61 years old (range, 5-87 years), and 46% were female. Fifty were categorized as level 1 diagnostic certainty, 15 as level 2, 30 as level 3, and 5 as level 4. Of the level 1 patients, 13 (26%) were correctly diagnosed at initial presentation; diagnosis was delayed, on average, by 29 months (range, 0.25-288 months; median, 2 months); and 27 (54%) having undergone 2 or more biopsies. At enrollment, PRP symptoms had persisted in 36 patients (72%) for an average of 58 months (range, 1-300 months; median, 30 months). Thirty-one patients (62%) had comorbidities, including hypothyroidism (20%). Nearly all patients (98%) received some form of therapy. Patients cited topical emollients, corticosteroids, and salicylic acid along with oral retinoids, methotrexate, and tumor necrosis factor inhibitors as most helpful. CONCLUSIONS AND RELEVANCE Pityriasis rubra pilaris remains a challenging diagnosis without established and specific treatment. Our data highlight new potential avenues for research with therapeutic perspective.

Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-κB.

SNP rs Variant Minor allele frequency cDNA Codon Amino acid rs9895931 c.27C>C/T TCC>TCT p.S9S T: 0.0% rs114688446 c.599G>G/A AGC>AAC p.S200N T: 0.8% rs4889990 c.633G>A GAG>GAA p.E211E A: 37.9% rs28674001 c.676-6G>A A: 37.4% rs142246283 c.683T>T/G CTA>CGA p.L228R no data rs61751629 c.1264G>A GAG>AAG p.E422K A: 2.1% rs11658460 c.1323C>T GAC>GAT p.D441D T: 10.2% rs34367357 c.1753G>A GTC>ATC p.V585I A: 5.2% rs2066964 c.1641G>C AGG>AGC p.R547S C: 65.1% rs117918077 c.2044C>C/T CGG>TGG p.R682W T: 1.2% rs11653893 c.2399-4A>G G: 40.4% no data c.2406C>C/A AGC>AGA p.S802R no data rs11652075 c.2458C>T CGG>TGG p.R820W T: 39.9% rs61757652 c.2481C>T CCC>CCT p.P827P T: 6.2% rs139789664 c.2495C>T, CTC>CTT, p.L832L T: 0.5%

Evaluation of a 1540-nm and a 1410-nm Nonablative Fractionated Laser for the Treatment of Striae.

BACKGROUND Aesthetically, striae distensae (SD) are a source of great concern. No treatment modality is currently considered the gold standard. However, studies of nonablative fractionated lasers (NAFLs) have been promising. OBJECTIVE To evaluate and compare the clinical and histopathologic efficacy and safety of a 1540-nm NAFL and a 1410-nm NAFL for the treatment of SD. METHODS AND MATERIALS Nine patients with abdominal striae were treated for 6 sessions—half of the abdomen was treated with a 1540-nm NAFL whereas the other half was treated with a 1410-nm NAFL. Photographs were taken at baseline and at the 3-month follow-up visit, when subjects were given a questionnaire. Two blinded dermatologists scored the photographs using a pre-established clinical scale. Biopsies were taken from 2 subjects and graded by 2 dermatopathologists using a pre-established pathology scale. RESULTS All 9 subjects demonstrated clinical improvement bilaterally after treatment. Skin biopsies after treatment showed an increase in epidermal thickness, dermal thickness, and collagen and elastin density when compared with baseline. Clinical and histopathological differences between the 2 lasers were not statistically significant. CONCLUSION Treatment with both the 1540-nm and the 1410-nm NAFL was shown to improve SD clinically and histopathologically. Further studies are needed to optimize treatment parameters.

Disseminated superficial actinic porokeratosis improved with fractional 1927-nm laser treatments

Disseminated superficial actinic porokeratosis (DSAP) is an inherited disorder of keratinization readily diagnosed through clinical and histologic examination. While generally benign in nature, the lesions can have profound psychosocial implications for patients. Although no cure exists, a number of treatment modalities, from topical medications to laser and light devices, have been reported with variable success. The authors report two cases of DSAP treated with the 1927-nm thulium fiber fractional laser along with a review of the treatment literature for DSAP. This therapy is convenient and safe with nearly no downtime or morbidity associated with pigment or textural changes.

Anetoderma treated with combined 595-nm pulsed-dye laser and 1550-nm non-ablative fractionated laser.

Anetoderma is a skin disorder characterized by a focal loss of dermal elastic tissue whereby patients present with soft, depressible lesions. We postulated that a series of combination treatment using the 595-nm pulsed dye laser (PDL) and the 1550-nm non-ablative fractionated laser (NAFL) would improve the anetoderma lesions. Our patient with biopsy proven anetoderma received 3 treatments with a combination of 595-nm PDL and 1550-nm NAFL spaced 3 weeks apart. Skin biopsies were performed at baseline and immediately prior to the third treatment. Stains for hematoxylin and eosin and Verhoeff Van Gieson (VVG) were performed. Improvement in lesion color, texture, and overall appearance was noted after the second treatment and continued following the third treatment. Post-treatment VVG staining demonstrated an increase in dermal elastin fibers and a decrease in elastin fiber fragmentation. Thus, the combination of 595-nm PDL and 1550-nm NAFL should be considered as a treatment modality for anetoderma.