Chanarin-Dorfman syndrome (CDS) is a multisystem autosomal recessive disorder due to variants of the ABHD5 gene, characterized by lipid vacuoles in the liver and leukocytes, and possible involvement of eyes, ears, skeletal muscle, and central nervous system. CDS may present with skin changes, most commonly congenital non- bullous ichthyosiform erythroderma, however erythrokeratoderma-like findings have been rarely reported in CDS patients. Herein, we report clinical, histopathological and genetic findings of four patients with CDS presenting with different clinical forms of erythrokeratoderma (three with progressive symmetric erythrokeratoderma-like features and one with erythrokeratoderma variabilis (EKV)-like features), including one patient with a novel mutation in ABHD5.
View Article and Find Full Text PDFIncontinentia pigmenti (IP) is a rare X-linked dominant, male-lethal disorder characterized by pathognomic skin lesions. As described in the literature the typical cutaneous changes follow the pattern of Blaschko's lines and develop in four stages that usually start at birth. Stage 1 is called vesicular, bullous or inflammatory.
View Article and Find Full Text PDFAtopic dermatitis (AD) is a common, chronic and relapsing inflammatory skin disease with various clinical presentations and combinations of symptoms. The pathophysiology of AD is complex and multifactorial. There are several factors involved in the etiopathogenesis of AD including structural and immunological epidermal barrier defect, imbalance of the skin microbiome, genetic background and environmental factors.
View Article and Find Full Text PDFHidradenitis suppurativa (HS) is a chronic, recurrent, and debilitating skin disease. Recent studies showed that inflammatory biomarkers, such as neutrophil-lymphocyte ratio (NLR), platelet-lymphocyte ratio (PLR), Lymphocyte/HDL ratio (LHR), Neutrophil/HDL ratio (NHR), and Monocyte/HDL ratio (MHR) are an indicator of inflammatory diseases and may be associated with disease severity and disease activity. To investigate NLR, PLR, LHR, NHR, and MHR in HS patients.
View Article and Find Full Text PDFSkin cancers are the most common type of cancer. Nonmelanoma skin cancers (NMSCs) are more common than melanoma. Although the mortality rate is low, cancer word can be frightening for patients.
View Article and Find Full Text PDFDiagnosis can be difficult in isolated palmar and plantar lesions in patients with psoriasis and eczema. The purpose of our study is to compare the dermoscopic findings in patients with palmoplantar psoriasis and palmoplantar hyperkeratotic eczema. This prospective, comparative study included 90 patients histopathologically diagnosed with eczema or psoriasis (35 psoriasis and 55 eczema).
View Article and Find Full Text PDFTuberculin skin test (TST), which is used in the diagnosis of latent tuberculosis infection, may cause Koebner's phenomenon and false-positive results in psoriasis patients. The purpose of this study is to compare TST with QuantiFERON-TB Gold Plus (QFT-plus) test in psoriasis patients and to determine the effects of psoriasis on TST results. Ninety-two psoriasis patients and 30 control subjects were included in the study.
View Article and Find Full Text PDFIndian J Dermatol Venereol Leprol
February 2022
Indian J Dermatol Venereol Leprol
November 2018