نتایج جستجو برای: plantar keratoderma

تعداد نتایج: 8616  

Journal: :The journal of investigative dermatology. Symposium proceedings 2005
Sancy A Leachman Roger L Kaspar Philip Fleckman Scott R Florell Frances J D Smith W H Irwin McLean Declan P Lunny Leonard M Milstone Maurice A M van Steensel Colin S Munro Edel A O'Toole Julide T Celebi Aleksej Kansky E Birgitte Lane

Pachyonychia congenita (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. Pathogenic mutations in keratins K6a or K16 are associated with the PC-1 phenotype whereas K6b and K17 mutations are associated with the PC-2 phenotype. Analysis of clinical, pathological, and genetic data from the literature and two research registries reveal that >97% of PC c...

Journal: :Acta dermato-venereologica 2007
Mami Yukawa Takahiro Satoh Tetsuya Higuchi Hiroo Yokozeki

Sir, Spiny keratoderma is a rare disease characterized by keratotic spicules resembling a “music box spine” located on the palms and soles (1). This entity has been reported under several different names, such as punctate keratoderma (2), punctate porokeratotic keratoderma (3), palmar filiform hyperkeratosis (4), and spiny keratoderma of the palms and soles (1). We present here a case of spiny ...

Journal: :Journal of Investigative Dermatology 2023

Background: Pachyonychia congenita (PC) is a rare keratinization disorder with around 1,000-10,000 cases reported worldwide. The mutation involves: KRT6A, KRT6B, KRTC6C, KRT16 or KRT17. Patients present severe plantar pain, palmoplantar keratoderma underlying blisters, and variable hypertrophic nail dystrophy [1]. Visual Analogue Scale (VAS) measures pain intensity. VAS consists of two endpoint...

Journal: :The Korean Journal of Internal Medicine 2007
Sehe-Dong Lee Hye-Jeong Kim Seung-Jae Hwang Yoon-Jung Kim Seung-Hyun Nam Bong-Seog Kim

Hand-foot syndrome (HFS) is a well-known adverse event associated with capecitabine, a prodrug of 5-Fluorouracil (5-FU). HFS manifests as acral erythema, with swelling and dysesthesia of the palms and plantar aspects of the feet, which in the absence of dosage reduction or drug cessation, progresses to moist desquamation and ulceration, resulting in serious infections and loss of function. We r...

2016
Anup Kumar Tiwary Sagarika Chatterjee Dharmendra Kumar

Brunauer-Fuhs-Siemens palmoplantar keratoderma, commonly known as striate palmoplantar keratoderma, is a rare, autosomally inherited disease of linear hyperkeratosis in which patient usually presents with conspicuous longitudinal hyperkeratosis on volar surface of hands and feet. Mutations in 3 genes namely desmoglein 1, desmoplakin and keratin 1, have been identified and held responsible for t...

Journal: :Archives of dermatology 2005
Hannah Keren Reuven Bergman Mordechai Mizrachi Yechiezkel Kashi Eli Sprecher

BACKGROUND Mutations in genes coding for 2 desmosomal proteins, desmoglein 1 and desmoplakin, have been shown to cause autosomal dominant keratoderma palmoplantaris striata. OBSERVATIONS We describe a family affected with a diffuse nonstriated form of palmoplantar keratoderma. Histopathologic examination of skin biopsy specimens disclosed cell-cell disadhesion in the suprabasal layers of the ...

Journal: :Molecular therapy : the journal of the American Society of Gene Therapy 2010
Sancy A Leachman Robyn P Hickerson Mary E Schwartz Emily E Bullough Stephen L Hutcherson Kenneth M Boucher C David Hansen Mark J Eliason G Susan Srivatsa Douglas J Kornbrust Frances Jd Smith Wh Irwin McLean Leonard M Milstone Roger L Kaspar

The rare skin disorder pachyonychia congenita (PC) is an autosomal dominant syndrome that includes a disabling plantar keratoderma for which no satisfactory treatment is currently available. We have completed a phase Ib clinical trial for treatment of PC utilizing the first short-interfering RNA (siRNA)-based therapeutic for skin. This siRNA, called TD101, specifically and potently targets the ...

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