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The text is the summary of recent articles on Mal De Meleda at 75 thresold from National Library of Medicine (NLM). This information is subject to NCBI's Disclaimer and Copyright notice.
The patient reported that she had these skin lesions since infancy and she realized new skin lesions after amputation in the residual limb . We report a consanguineous family in which MDM was inherited in an Autosomal recessive manner . Clinically, the onset of the disease is typically soon after birth and features a transgrediens (plantar surface progressing to dorsal surface) and progrediens (worsening with age) pattern of Hyperkeratosis of the Palms and Soles . Histologically, the lesions show Hyperkeratosis and Acanthosis without epidermolysis in the epidermis, accompanied by perivascular lymphocytic infiltrate in the Dermis . 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 . Current treatments of hyperkeratosis (mainly emollients, Keratolytics, Retinoids or corticosteroids), either topical or Systemic, are symptomatic and offer only temporary partial relief . The disease is debilitating and Progressive keratoderma and auto-amputation of digits can prevent patients from grasping and walking, and confine them to a wheelchair . 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 .
It is characterized by erythema and Hyperkeratosis of the Palms and soles that progressively extend to the dorsal surface of the Hands and Feet . A spectrum of clinical presentations with variable features has been observed from the pronounced to the transparent hyperkeratosis . 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 .
It is characterized by erythema and Hyperkeratosis of the Palms and Soles, extending to the dorsal aspects of the hands and Feet . 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 . The histopathologic study showed marked Hyperkeratosis, Acanthosis, and normogranulosis, without epidermolysis . It is characterized by Diffuse erythema and hyperkeratosis of the Palms and Soles .
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