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Psoriasis vulgaris is a common skin inflammatory disease characterized by recurrent flare episodes associated with scaly well-demarcated skin plaques. Skin biopsies from psoriatic patients with high PASI score (22.67 ± 8.67) and fromHDwere used to study APN/CD13. APN/CD13 is over-expressed in LP and nLP compare to HD skins and fibroblasts. This overexpression is positively correlated with specific enzymatic activity enhancement. However, discrepancies between APN/CD13 expression in LP and nLP prompt us to focus our study on APN/CD13 modulation. Calcitonin Gene Related Peptide (CGRP), a neuropeptide, positively modulated expression and activity of APN/CD13. CGRP consistently induced IL4 secretion, which is also involved in the increase of APN/CD13 expression and activity, which is significantly reversed using IL-4 blocking antibody. Surprisingly, retinoic acid altered the APN/CD13 enzymatic activity only in nLP fibroblasts without modification of APN/CD13 expression. APN/CD13 is over-expressed on psoriatic fibroblasts and exerted high level of activity compare to HD fibroblasts. Taken together, several factors such as CGRP and IL-4 acted on positive regulation of APN/CD13 expression and activity. This study highlighted the interest of APN/CD13 as a new potential target, which should be investigated in psoriasis. [ABSTRACT FROM AUTHOR]

Background: A localized form of epidermolysis bullosa simplex (EBS-l) is considered one of the mildest forms of epidermolysis bullosa (EB), with blisters limited to the palms and soles. However, these lesions can be very painful. The aim of the study was to characterize pain in patients with EBS-l and evaluate its impact on quality of life (QoL). Patients were contacted via the Research Group of the French Society of Pediatric Dermatology and the association of EB patients (DEBRA France). One investigator used a standardized questionnaire that included validated scales for pain and QoL for a telephone interview.Results: We included 57 patients (27 children). All patients had pain: the mean pain on a 10-mm visual analog scale was >5 for most adults (90%) and children ≥8 years old (94%) when blisters were present and for most adults (73%) and about half of the children ≥ age 8 (53%) during dressing changes. Similar results were found for younger patients. Overall, 75% of patients had neuropathic pain; for 55% of children and 73% of adults, the pain had a moderate to severe impact on QOL. Only seven patients used premedication before changing dressings and seven regularly used oral treatment for chronic pain. A total of 21% and 23% of patients used non-steroidal anti-inflammatory drugs and grade 2 analgesics, respectively. These treatments were not effective for neuropathic pain. Six patients tried 5% lidocaine plasters on their feet, with good efficacy.Conclusions: EBS-l patients have frequent and severe pain with neuropathic characteristics. This pain is undertreated and affects QoL. [ABSTRACT FROM AUTHOR]

Phacomatosis pigmentokeratotica is characterized by the coexistence of an organoid epidermal naevus, following Blaschko's lines, and a large speckled lentiginous naevus, typically arranged in a chequerboard pattern. This entity has been isolated from the group of epidermal naevus syndromes and is frequently associated with extracutaneous anomalies. We report here the first observation of phacomatosis pigmentokeratotica associated with nephroblastoma. In addition to this paediatric renal tumour, the coexistence of juvenile arterial hypertension suggests an associated vascular defect. The link between the extracutaneous manifestations and cutaneous twin spot phenotype is discussed. [ABSTRACT FROM AUTHOR]

Bi-allelic mutations in I LRMDA i gene (leucine-rich melanocyte differentiation-associated protein or I C10orf11 i gene, chromosome 10 open reading frame 11 or leucine-rich differentiation-associated protein), located on chromosome 10q22, are associated with the newly described and very rare OCA7 subtype (MIM615179). OCA7 was first described in 8 members from the same family from Faroe Islands and in one patient from Lithuania.[2] While ocular symptoms predominate, patients presented with pale skin, scalp hair colors varied from pale blond to dark brown. Notably, four patients (from Turkey, Lithuania and our two patients) carry the same c.66dupC suggesting a founder effect in the east part of Europe and Asia. [Extracted from the article]

The article discusses a study on a large Algerian family in which nine members presented with erythrokeratodermia variabilis (EKV)-P phenotypes associated with a novel mutation in the GJB4 gene. Characteristics of EKV include hyperkeratosis and transient erythematous areas. The possibility that EKV and progressive symmetrical erythrokeratodermia (PSEK) may be manifestations of the same genetic defect is also addressed.

Persistence of rubella live vaccine has been associated with chronic skin granuloma in 3 children with primary immunodeficiency. We describe 6 additional children with these findings, including 1 with visceral extension to the spleen., (© The Author 2016. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail journals.permissions@oup.com.)