Segmental stiff skin syndrome (SSS): Clinical case and a brief review.

Stiff skin syndrome (SSS) is a rare, scleroderma-like condition that is commonly characterised by stony hard skin and limited joint mobility, in the absence of visceral involvement or immunologic abnormalities. Depending on the distribution of the disease, this disorder can be further categorised into classic (widespread) SSS or its newly described segmental variant. Additional features of this syndrome may include hypertrichosis, lipodystrophy, dysmetria and scoliosis. In this report, we present the case of a patient with segmental SSS and we briefly review the current literature about the topic.

Mosaicism in genodermatoses.

Genodermatoses are inherited disorders presenting with cutaneous manifestations with or without the involvement of other systems. The majority of these disorders, particularly in cases that present with a cutaneous patterning, may be explained in the context of genetic mosaicism. Despite the barriers to the genetic analysis of mosaic disorders, next-generation sequencing has led to a substantial progress in understanding their pathogenesis, which has significant implications for the clinical management and genetic counseling. Advances in paired and deep sequencing technologies in particular have made the study of mosaic disorders more feasible. In this review, we provide an overview of genetic mosaicism as well as mosaic cutaneous disorders and the techniques required to study them.

Is there a role for blood purification therapies targeting cytokine storm syndrome in critically severe COVID-19 patients?

The coronavirus disease-19 (COVID-19) has spread over many countries and regions since the end of 2019, becoming the most severe public health event at present. Most of the critical cases developed multiple organ dysfunction, including acute kidney injury (AKI). Cytokine storm syndrome (CSS) may complicate the process of severe COVID-19 patients. This manuscript reviews the different aspects of blood purification in critically ill patients with AKI and increased inflammatory factors, and examines its potential role in severe COVID-19 treatment. Continuous renal replacement therapy (CRRT) has been practiced in many sepsis patients with AKI. Still, the timing and dosing need further robust evidence. In addition to the traditional CRRT, the high-throughput membrane with adsorption function and cytokine adsorption column are two representatives of recently emerging novel membrane technologies. Their potential in removing inflammatory factors and other toxins prospects for the treatment of severe COVID-19.

Erythema papulatum centrifugum and new diagnostic criteria.

Erythema papulatum centrifugum (EPC), also known as erythema papulosa semicircularis recidivans (EPSR), is distinct from eczema and other well-described figurate erythemas characterised by annular erythematous lesions. We report 7 cases of EPC and propose new diagnostic criteria including the following: (i) EPC is characterised by single or multiple recurrent expanding annular or semi annular erythema with central regression, surrounded by tiny red papules; (ii) the lesions regularly relapse and resolve; (iii) the histopathologic feature shows superficial perivascular inflammation with or without mild inflammation around sweat glands in the mid dermis and (iv) patients lack other associated cutaneous or internal abnormalities.

Cutaneous Bone Formation Associated With Melanocytic Nevus.

AIM: Cutaneous bone formation is an uncommon lesion of the skin. It may be primary or secondary. Secondary lesions are mostly associated with melanocytic nevi. Although many different theories have been proposed to explain the etiology, extraskeletal bone formation is complex and poorly understood phenomenon.Here the authors report a series of melanocytic nevi with cutaneous bone formation and the authors described morphologic and clinicopathologic features such as age, sex, location, focus number and size of the lesion. MATERIAL AND METHOD: Through a single center, this retrospective study presents total number of 20 patients with melanocytic nevus with or without osseous metaplasia. Histologic and clinicopathologic features such as age, sex, location, focus, and size of lesion were compared. RESULTS: Lesions were identified in 10 female patients. All of the cases were seen in the head and neck region such as face, forehead, eyebrow, lip, and neck and most of them were solitary. The nevi were usually associated with the single focus of ossification. Most of patients (50%) had acne symptoms and treatment anamnesis. Granulomatous dermal inflammation was seen in 2 patients. There was no difference in nevus morphology and the size of the nevi between the osteonevi and the other types of nevi. CONCLUSION: In conclusion, this study revealed that although it is rare it has distinctive features such as female patients, face location, and acne anamnesis. Therefore it may be speculated that the osteogenic factors may be involved with inflammatory-induced metaplastic ossification and tend to be related female sex.

Ligneous conjunctivitis due to plasminogen deficit: Diagnostic and therapeutic approach. With literature review.

Ligneous conjunctivitis is a rare and poorly understood pathology. Infections and repeated microtraumas are often involved in acute disease flare-ups. This masquerade may lead to misdiagnosis and delayed treatment. We report two cases of ligneous conjunctivitis, describing various presentations of its natural history and focusing on the treatment of this rare disease.

Comparative gene array analyses of severe elastic fiber defects in late embryonic and newborn mouse aorta.

Elastic fibers provide reversible elasticity to the large arteries and are assembled during development when hemodynamic forces are increasing. Mutations in elastic fiber genes are associated with cardiovascular disease. Mice lacking expression of the elastic fiber genes elastin ( Eln-/-), fibulin-4 ( Efemp2-/-), or lysyl oxidase ( Lox-/-) die at birth with severe cardiovascular malformations. All three genetic knockout models have elastic fiber defects, aortic wall thickening, and arterial tortuosity. However, Eln-/- mice develop arterial stenoses, while Efemp2-/- and Lox-/- mice develop ascending aortic aneurysms. We performed comparative gene array analyses of these three genetic models for two vascular locations and developmental stages to determine differentially expressed genes and pathways that may explain the common and divergent phenotypes. We first examined arterial morphology and wall structure in newborn mice to confirm that the lack of elastin, fibulin-4, or lysyl oxidase expression provided the expected phenotypes. We then compared gene expression levels for each genetic model by three-way ANOVA for genotype, vascular location, and developmental stage. We found three genes upregulated by genotype in all three models, Col8a1, Igfbp2, and Thbs1, indicative of a common response to severe elastic fiber defects in developing mouse aorta. Genes that are differentially regulated by vascular location or developmental stage in all three models suggest mechanisms for location or stage-specific disease pathology. Comparison of signaling pathways enriched in all three models shows upregulation of integrins and matrix proteins involved in early wound healing, but not of mature matrix molecules such as elastic fiber proteins or fibrillar collagens.