Background
Diffuse capillary malformation with overgrowth (DCMO) has been well described. However, capillary malformation with undergrowth (CMU) has been less reported in the literature.
Objectives
...We sought to describe the clinical features and determine associated somatic mutations in patients with CMU.
Methods
We searched our multidisciplinary vascular anomalies clinic database for patients with CMU. Girth and length limb measurements were performed. In case of discrepancies in length, long leg radiograph studies were obtained. Whole‐exome sequencing of blood and involved tissue DNA was carried out.
Results
We included six patients with CM and soft‐tissue and bone undergrowth. CMs were patchy, reticulated, segmental, poorly demarcated, pink‐red stains affecting the lower limb (five patients) or the whole hemibody (one patient). In five patients, the stain was diffuse, affecting more than one anatomic region. Prominent superficial veins were observed in three patients. Five patients presented with lower limb girth discrepancy; in three of them, there was also lower limb length discrepancy. In the remaining patient, only lower limb length discrepancy was found. Whole‐exome sequencing from DNA tissue/blood detected previously described pathogenic somatic mutations on DDR2 (c.314G > A; p.Arg105His), GRHL2 (c.791A > G; p.Glu264Gly), and PIK3CA (c.2740G > A; p.Gly914Arg) genes.
Conclusion
We propose the term "diffuse capillary malformation with undergrowth" for extensive reticular CMs associated with proportionate undergrowth. All our patients had a favorable outcome, and no genotype‐phenotype association was found.
Vitiligo pathophysiology is mediated by antigen‐specific cytotoxic T cells. Environmental stressors cause susceptible melanocytes to secrete damage‐associated molecular patterns (DAMPs). DAMPs are ...recognized by receptors such as the endocytic low‐density lipoprotein receptor‐related protein (LRP1/CD91), expressed in antigen‐presenting cells, which activate self‐reactive CD8+ T cells, leading to melanocyte destruction. Within this response, interferon gamma triggers production of cytokine CXCL10, recruiting more activated T cells causing further melanocytic damage. We hypothesized that expression of LRP1/CD91 was higher in vitiligo patients compared to non‐vitiligo individuals. And further that levels/expression of CXCL10 in plasma were linked to disease severity. We enrolled forty individuals in this study: 18 patients with vitiligo and 22 healthy volunteers. We assessed LRP1/CD91 expression and plasma CXCL10 in patients with vitiligo and healthy volunteers. Additionally, vitiligo patients received combined treatment for 16 weeks following which the said parameters were reassessed. Vitiligo Area Scoring Index was calculated before and after treatment for these patients. Analysis of LRP1/CD91 MFI values in monocytes from vitiligo patients showed high surface levels of LRP1/CD91 than from healthy volunteers (10.50 ± 0.77 vs. 6.55 ± 0.77 MFI units, p < 0.001). This expression did not change after treatment. Plasma levels of CXCL10 were higher in vitiligo patients than healthy volunteers (93.78 ± 7.73 vs. 40.17 ± 6.25 pg/ml). The patients with a good clinical response to treatment had a parallel reduction in plasma CXCL10 levels (105.8 ± 18.44 vs. 66.13 ± 4.87 pg/ml) before and after treatment. LRP1/CD91 expression may reflect susceptibility to vitiligo. Plasma levels of CXCL10 can represent a biomarker for monitoring treatment response. LRP1 and CXCL10 may represent therapeutic targets.
Cartilage hypoplasia syndrome is a primary immunodeficiency disease characterized by short stature, hypoplastic hair and a variable degree of immunodeficiency. Noninfectious cutaneous granulomas ...represent an uncommon yet well‐recognized manifestation within the spectrum of primary immunodeficiency diseases. However, cutaneous granulomas as a manifestation of cartilage‐hair hypoplasia syndrome, are extremely rare. We present a case of a middle‐aged man with cartilage hypoplasia syndrome featuring cutaneous granulomas, manifesting as chronic, extensive and deep cutaneous ulcers. The patient was treated with anti‐TNF‐alpha adalimumab with partial improvement. Our case underscores the broad spectrum of clinical manifestations associated with cartilage hypoplasia syndrome and adds new evidence to the potential therapeutic efficacy of anti‐TNF‐alpha drugs in its treatment.
Vascular stains are a common reason for consultation in pediatric dermatology clinics. Although vascular stains include all vascular malformations, the term is most often used to refer to capillary ...malformations, but capillary malformations include a wide range of vascular stains with different clinical features, prognoses, and associated findings. The discovery of several mutations in various capillary malformations and associated syndromes has reinforced these differences, but clinical recognition of these different types of capillary vascular stains is sometimes difficult, and the multitude of classifications and confusing nomenclature often hamper the correct diagnosis and management. From our own experience and a review of the most relevant literature on this topic, we propose categorizing patients with capillary vascular stains into seven major clinical patterns: nevus simplex, port‐wine stain, reticulated capillary malformation, geographic capillary malformation, capillary malformation–arteriovenous malformation (CM‐AVM), cutis marmorata telangiectatica congenita, and telangiectasia. We also discuss the differential diagnosis of vascular stains as well as other conditions that can closely resemble capillary malformations and thus may potentially be misdiagnosed.
The objective of the study was to assess the pathogenic and treatment relevance of Platelet Activating factor (PAF) in chronic spontaneous urticaria (CSU). The expression and cellular location of PAF ...receptor (PAFR) and serum levels of PAF and PAF acetylhydrolase (PAF‐AH) in patients with moderate/severe CSU (n = 45) and healthy controls (HCs, n = 17) were studied. Skin samples from the active wheal (LS‐CSU, 13 samples for qPCR and 33 for immunohistochemistry) and non‐lesional skin (NLS‐CSU, 13 samples) of CSU patients and HCs (13 samples and 5 for immunohistochemistry) were analyzed. Serum PAF and PAF‐AH levels were measured by ELISA and compared between HC (10 samples) and CSU patients (25 samples) and, among them, between those refractory and non‐refractory to second‐generation H1‐antihistamines (sgAH). PAFR mRNA expression was significantly higher in LS‐CSU versus HCs (p = 0.014). PAFR positive staining in immunohistochemistry was mainly found in the epidermal basal layer in HCs, whereas it was broadly present along the epidermis in LS‐CSU samples. Endothelial cells showed PAFR expression exclusively in LS‐CSU and NLS‐CSU samples. PAFR expression was observed in the nerves of HC, LS‐CSU, and NLS‐CSU samples. Double PAFR/CD43 expression showed that T‐lymphocytes were the main cell type from the wheal inflammatory infiltrate expressing PAFR. A significantly lower PAF‐AH/PAF ratio was observed in sgAH non‐responders versus responders (6.1 vs. 12.6; p = 0.049). Our study confirms that PAF is a mediator of wheal pathogenesis in CSU. The significantly lower PAF‐AH/PAF ratio in sgAH non‐responders vs responders suggests that PAF could be a potential biomarker of sgAH refractoriness.
Papules and vesicles on the ears of a young boy Rozas‐Muñoz, Eduardo; López‐Sánchez, Cristina; Piquero‐Casals, Jaime ...
International journal of dermatology,
August 2021, 2021-08-00, 20210801, Letnik:
60, Številka:
8
Journal Article
PDF
