نتایج جستجو برای: follicular atrophoderma
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Linear atrophoderma of Moulin (LAM) is an acquired skin condition that manifests in early childhood and adolescence. It likely represents a form of cutaneous mosaicism that presents with linear, hyperpigmented and atrophic lesions appearing on the trunk and limbs. Its clinical appearance varies and may closely resemble that of atrophoderma of Pasini and Pierini (APP) and linear scleroderma. LAM...
Atrophoderma of Pasini and Pierini is a form of dermal atrophy that manifests as either single or multiple, sharply demarcated, hyperpigmented, non-indurated patches. These patches are marked by a slight depression of the skin, with an abrupt edge (i.e., the "cliff-drop" borders), usually located on the backs of adolescents or young adults. The pathophysiology of the disease is unknown, but som...
Linear atrophoderma of Moulin (LAM) is a rare dermatosis in childhood and early adolescence. The exact etiology of LAM is still obscure. Several treatment modalities were reported but none was consistently successful. We report a case of LAM in which a favorable outcome was obtained with topical calcipotriol. The relevant literature is also reviewed.
Genetic defects in matriptase are linked to two congenital ichthyoses: autosomal recessive ichthyosis with hypotrichosis (ARIH, OMIM 610765) and ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis (IFAH, OMIM 602400). Mouse models with matriptase deficiency indicate an involvement of matriptase in suprabasal keratinocytes in the maintenance of the epidermal barrier. In contrast...
H ydrops-ectopic calcification-motheaten (HEM) skeletal dysplasia is a rare lethal autosomal recessive skeletal dysplasia which is also known as Greenberg dysplasia. There are currently only seven published cases. X linked dominant chondrodysplasia punctata (Conradi–Hünermann syndrome) mainly affects females and is characterised by aberrant punctate calcification of cartilage or stippling of th...
Atrophoderma vermiculata is a rare genodermatosis with usual onset in childhood, characterized by a "honey-combed" reticular atrophy of the cheeks. The course is generally slow, with progressive worsening. We report successful treatment of 2 patients by means of the carbon dioxide and 585 nm pulsed dye lasers.
BACKGROUND Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and hypotrichosis, hypohidrosis and follicular atrophoderma. However, the understanding of the specific consequences of mutations in ST14 on the developme...
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