نتایج جستجو برای: palmoplantar keratoderma of sybert
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Aquagenic keratoderma (AK) or aquagenic wrinklingis a rare palmoplantar skin disease. It is sporadic orhereditary condition. It appears in childhood or youngadulthood and it is seen as multiple asymptomaticsmall shiny papules on the peripheral margin ofpalms and/or soles after submersion in water. Thepathogenesis and etiology of ASA remains unclear.Drugs sometimes trigger AK. Herein, we present...
The ectodermal dysplasias are a heterogeneous group of disorders with primary defect in hair, teeth, nail and sweat gland function. Numerous types have been described and several classifications exist. Here, we present a patient with ectodermal dysplasia with alopecia, dysplastic nails, hypohidrosis, sensorineural deafness, palmoplantar keratoderma, abnormal teeth and dry skin. To our knowledge...
Keratosis follicularis spinulosa decalvans is a rare, X-linked disorder characterized by scarring alopecia of the scalp and eyebrows in the setting of widespread keratosis pilaris. Less frequent associations are ocular abnormalities and palmoplantar keratoderma. Acne keloidalis nuchae has previously been described in one patient with keratosis follicularis spinulosa decalvans. We report another...
Punctate palmoplantar keratoderma type 1, also known as Brauer-Buschke-Fisher syndrome, is an autosomal dominant inherited disorder with variable penetrance. The disorder is characterized by multiple punctate hyperkeratotic papules on the palms and soles. Although it is a clinical rarity, a spot diagnosis can usually be made provided one is familiar with the condition thereby unnecessary diagno...
Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease characterized by diffuse hyperkeratosis of the epidermis of the palm and sole with an erythematous margin. The Keratin 9 (KRT9) and Keratin 1 genes are responsible for EPPK. Several previous studies have focused on the genetic basis of EPPK; however, genetic anticipation has not yet been reported. We described a four...
Olmsted syndrome is a rare congenital entity characterized by combination of symmetrical, sharply-defined palmoplantar keratoderma with flexion deformities of the digits, periorificial keratosis, perianal involvement, onychodystrophy, and variable leukokeratosis. Herein, we report two new related male patients--the third familial cases of Olmsted syndrome--one with the full-blown spectrum of th...
Buschke-Fisher-Brauer keratoderma is a rare hereditary autosomal dominant disease of incomplete penetrance. Important differential diagnoses include other palmoplantar keratinization disorders, acquired or hereditary, which is done based on the histopathological findings. This diagnosis alerts especially about the possibility of associated neoplasms. Treatment involves topical keratolytic agent...
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