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The patient reported that she had these skin lesions since infancy and she realized new skin lesions after amputation in the residual limb . SLURP-1 is considered an autocrine/paracrine hormone that regulates growth and differentiation of keratinocytes and controls Inflammation and Malignant cell transformation . The most suggestive symptoms associate PPK with pseudoainhum and Periorificial Keratotic Plaques . The diagnosis relies mainly on clinical features associating severe PPK and Periorificial Keratotic Plaques, but can be challenging in patients with incomplete phenotype or Atypical features . Recently, the gene responsible for the disease has been identified on chromosome 8qter within the cluster of Ly-6 homologous human genes .
SERPINB7 was specifically present in the cytoplasm of the stratum granulosum and the Stratum Corneum (SC) of the epidermis . The siblings had non-affected parents, suggesting that the mode of Inheritance was autosomal recessive . At present, reports on PPK in the English literature are limited, and thus the clinical features of Nagashima-type PPK may not be well appreciated in Western countries . Slurp1 downregulation and Neutrophil influx were comparable in HSV-1-infected wild-type (WT) and Ifng-/- mouse corneas . Involvement of the Lip by keratoderma has not been reported in the English literature .
The first case was a 15-year-old girl, born of second-degree consanguineous marriage, who presented with transgradient palmoplantar keratoderma from 6 months of age, with Lichenoid papules and Plaques on the elbows and knees, conical tapering of the distal digits, flexion deformity of several Fingers, digital constriction, knuckle pads and Lip involvement . The second case was a 24-year-old male with transgradient palmoplantar Keratoderma since birth . Its Autosomal recessive Inheritance was described in 1938, and the defective gene was Localized to chromosome 8 qter in 1998 . Clinical features are the result of abnormal Palmoplantar keratinization and include severe Symmetrical transgressive Hyperkeratosis and erythema of the Feet and hands in a glove-and-sock pattern . A 15-year-old Korean Female presented with sharply demarcated hyperkeratotic Plaques on the Palms and Soles, which extended to the dorsal surfaces of the Hands and Feet, in a "glove-and-socks" Distribution .
SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates Epidermal homeostasis . We also observed direct contact between F4/80-positive macrophages and bronchial epithelial Cells and the presence of invading macrophages in close proximity to CHT1-positive nerve elements . The symptoms and clinical course were typical for Nagashima-type PPK .
References: 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 ,Press Refresh to fetch fresh content with references from pubmed. This content was cached on 2017-03-20 comments powered by Disqus
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