نتایج جستجو برای: keratoderma

تعداد نتایج: 755  

2015
Ali Baykan Şeref Olgar Mustafa Argun Abdullah Özyurt Özge Pamukçu Kazım Üzüm Nazmi Narin

OBJECTIVE Naxos disease is an autosomal recessive, inherited, cardiocutaneous disorder, characterized by arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. Carvajal syndrome is characterized by palmoplantar keratoderma, curly hair, dilated cardiomyopathy, especially on the left ventricle side, and early morbidity. The aim of this study was to evaluate th...

Journal: :Indian Dermatology Online Journal 2014

Journal: :Sexually Transmitted Infections 1936

Journal: :Clinical Case Reports 2017

Journal: :Revista portuguesa de pneumologia 2013
V Coelho-Macias S Fernandes P Lamarão F Assis-Pacheco J Cardoso

Reported for the first time in 1996, aquagenic keratoderma is a rare condition which is characterized by edematous flat-topped papules appearing on palmar skin after water immersion. Multiple anecdotal associations have been described but, recently, the association with cystic fibrosis gene mutations (CFTR) has been highlighted. The authors describe an 18 year-old female, with one-month complai...

2012
Shabina Sachdeva Namita Kalra Pranav Kapoor

Papillon-Lefèvre Syndrome (PLS) is a rare autosomal recessive disorder first described by two French physicians, Papillon and Lefèvre in 1924. The disorder is characterized by diffuse palmoplantar keratoderma and precocious aggressively progressing periodontitis, leading to the premature loss of deciduous and permanent teeth at a very young age. The cutaneous lesions are usually manifested simu...

2011
Young Jae Oh Ha Eun Lee Joo Yeon Ko Young Suck Ro Hee Joon Yu

Mal de Meleda (MDM), also known as keratoderma palmoplantaris transgrediens, is a rare inherited form of palmoplantar keratoderma. 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 dorsa...

2012
Krina B Patel

4. Bergman R, Bitterman-Deutsch O, Fartasch M, GershoniBaruch R, Friedman-Birnbaum. Mal de Meleda keratoderma with pseudoainhum. Br J Dermatol 1993;128:207-12. 5. Atherton DJ, Sutton C, Jones BM. Mutilating palmoplanter keratoderma with periorificial keratotic plaques (Olmsted’s syndrome). Br J Dermatol 1900;122:245-52. 6. Pisoh T, Bhatia A, Oberlin C. Surgical correction of pseudoainhum in Voh...

2017
Moustafa Abdelaal Hegazi Sommen Manou Hazem Sakr Guy Van Camp

Inherited Palmoplantar Keratodermas are rare disorders of genodermatosis that are conventionally regarded as autosomal dominant in inheritance with extensive clinical and genetic heterogeneity. This is the first report of a unique autosomal recessive Inherited Palmoplantar keratoderma -sensorineural hearing loss syndrome which has not been reported before in 3 siblings of a large consanguineous...

2017
I. Stanghellini E. Genovese S. Palma C. Falcinelli L. Presutti A. Percesepe

Dominant GJB2 mutations are known to cause a syndromic form of sensorineural hearing loss associated with palmo-plantar skin manifestations. We present the genotype/phenotype correlations of a new GJB2 mutation identified in three generations of an Italian family (proband, mother and grandfather) whose members are affected by sensorineural hearing impairment associated with adult-onset palmopla...

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