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However, the CKO mice showed no obvious skin abnormality in physiological condition.
Six recurrences presented with a new symptom (palpable lump or skin abnormality).
This suggests that a skin-intrinsic defect is required for development of psoriasis lesions, and it is possible that this underlying skin abnormality initiates or partly drives the inflammatory response and aggregation of immune cells within lesions [ 20].
Therefore, a ZIP13 mutation would result in a type of iron dyshomeostasis that would not present itself with the typical types of symptons (e.g., skin abnormality, bone malformation, and growth retardation) observed with classical iron deficiency.
Categories, reference value is indicated by a *(Sex 0 = male*, 1 = female; age in years, 1 = *; Number of Naevi 0 = less than 100*, 1 = more than 100; skin phototype Fitzpatrick types 1*-6; reason for participation 1 = self-perceived skin abnormality 0 = free skin checkup* and other reasons; family history 1 = positive family history for skin cancer, *0 = no skin cancer in family).
A skin abnormality was diagnosed in 111 children (22.4%), including: very dry skin or eczema in 69 children (13.9%), scabies in 17 children (3.4%), diaper dermatitis in 12 children (2.4%), fungal dermatitis in 10 children (2.0%), hemangioma in two children (0.4%) and bacterial skin infection in one child (0.2%).
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All investigated patients had the classical skin abnormalities of XP including xerosis, skin atrophy, and abnormal pigmentation with no neurological abnormalities.
Patients with UVSS exhibit photosensitivity and mild skin abnormalities; in contrast, patients with CS show major growth retardation, abnormal mental development and neurological anomalies, usually leading to early death [ 3, 10] (Table 1).
An Abca12 −/− mouse model has been vital in confirming the role of this transporter molecule in the skin abnormalities seen in HI, i.e. hyperkeratosis, impaired barrier function, abnormal lamellar bodies and the retention of lipid droplets in the epidermis (Yanagi et al., 2008; Smyth et al., 2008; Sundberg et al., 1997).
Experimentally induced Mn deficiency caused a number of detrimental effects, such as impaired bone formation, abnormal glucose tolerance, low levels of high-density lipoprotein (HDL) cholesterol, and skin abnormalities in both animals and humans [ 3].
Symptoms typically appear in the fifth or sixth decade of life and may include skin abnormalities (e.g., discoloration and nodule formation), heart failure, kidney failure, and enlargement of the spleen and liver.
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