Results 81 to 90 of about 6,541 (219)

Kindler Syndrome: A Case Report From a Developing Country

Clinical Case Reports, Volume 13, Issue 11, November 2025.
ABSTRACT Kindler syndrome can be diagnosed clinically even in the absence of genetic testing. Early recognition of the disease, combined with regular surveillance for malignancy and a multidisciplinary approach that includes attention to psychosexual health, is essential for improving patient outcomes, enhancing quality of life, and promoting social ...
Munawar Hraib, Cyrine Ali Deeb, Tala Dib, Roula Baddour   +3 more
wiley   +1 more source

Beyond the Common Causes of Palmoplantar Keratoderma: Papillon–Lefevre Syndrome with a Unique Mutation

Clinical Dermatology Review
Papillon–Lefevre syndrome is a rare autosomal recessive type of syndromic palmoplantar keratoderma, associated with ectodermal dysplasia. It is also known as keratoderma with periodontitis.
Sanjanaa Srinivasa, Sumedha Ballal, Preetha Tilak, Savitha Murali, Madhukara Jithendriya   +4 more
doaj   +1 more source

Role of genetic aspect in pathogenesis of atopic dermatitis [PDF]

, 2013
The pathogenesis of atopic dermatitis (AD) is a very complicated process that involves an intricate array of molecules. Nowadays it is generally accepted that cytokines play an important role in the progression of the clinical presentation of atopic ...
Wesserling Martyna
core   +2 more sources

Keratitis-ichthyosis-deafness syndrome, atypical connexin GJB2 genemutation, and peripheral T-cell lymphoma: more than a random association? [PDF]

, 2011
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by a variety of skin lesions— that is, palmoplantar keratoderma, thickening of the skin, and erythematous verrucous lesions—neurosensorial hypoacusia, and keratitis
Contini, Salvatore, Cottoni, Francesca Maria Giovanna, Cucca, Francesco, Fozza, Claudio, Galleu, Antonio, Longinotti, Maurizio Roberto, Poddie, Fausto Pier'Angelo   +6 more
core   +3 more sources

Italian pediatric experts' consensus statement on diagnosis and management of primary atopic disorders

Pediatric Allergy and Immunology, Volume 36, Issue 11, November 2025.
Abstract Background Primary Atopic Disorders (PAD) represent a recently recognized subset of inborn errors of immunity (IEI), characterized by severe atopy driven by genetic mutations leading to dysregulated type 2 immune responses, excessive mast cell activation, and hyper production of IgE.
Fabio Cardinale, Ivan Taietti, Mayla Sgrulletti, Lucia Pacillo, Viviana Moschese, Caterina Cancrini, Raffaele Badolato, Michele Miraglia del Giudice, Gian Luigi Marseglia, Elena Chiappini, Riccardo Castagnoli, Primary Atopic Disorders Working Group, on behalf of the Italian Society of Pediatric Allergy and Immunology (SIAIP), Salvatore Barberi, Anna Belloni Fortina, Roberto Berni Canani, Paolo Bottau, Carlo Caffarelli, Mauro Calvani, Antonella Cianferoni, Francesco Cinetto, Bianca Laura Cinicola, Emilia Cirillo, Francesca Conti, Laura Dotta, Marzia Duse, Silvia Federici, Alessandro Fiocchi, Elena Galli, Silvia Giliani, Giuliana Giardino, Cristiana Indolfi, Lucia Leonardi, Amelia Licari, Vassilios Lougaris, Sara Manti, Alberto Martelli, Domenico Minasi, Elio Novembre, Riccardo Papa, Claudio Pignata, Federica Pulvirenti, Maria Sangerardi, Annarosa Soresina, Mariangela Tosca, Alberto Giovanni Ugazio, Anna Maria Zicari   +46 more
wiley   +1 more source

Olmsted Syndrome

Indian Journal of Dermatology, 2002
Olmsted syndrome is a rare congential palmoplantar keratoderma with progressive periorificial hyperkeratotic lesions, alopecia areata, deafness, lental and nail changes. Only a few cases of this syndrome have been reported so far.
Mukhopadhyay Piyali, Biswas Nibir, Dutta R.N, Pal S   +3 more
doaj  

Aquagenic keratoderma. Two new case reports and a new hypothesis

Indian Dermatology Online Journal, 2014
Aquagenic keratoderma has been described as a transient condition affecting predominantly young females and defined clinically by the appearance of palmar hyper-wrinkling accentuated after immersion in water.
Georgi Tchernev, Kristina Semkova, José Carlos Cardoso, J Julian Ananiev, Uwe Wollina   +4 more
doaj   +1 more source

The Deafness-Associated Mitochondrial DNA Mutation at Position 7445, Which Affects tRNASer(UCN) Precursor Processing, Has Long-Range Effects on NADH Dehydrogenase Subunit ND6 Gene Expression [PDF]

, 1998
The pathogenetic mechanism of the deafness-associated mitochondrial DNA (mtDNA) T7445C mutation has been investigated in several lymphoblastoid cell lines from members of a New Zealand pedigree exhibiting the mutation in homoplasmic form and from control
Attardi, Giuseppe, Enriquez, José Antonio, Fischel-Ghodsian, Nathan, Guan, Min-Xin, Lin, Catherine P., Maw, Marion A., Puranam, Ram S.   +6 more
core   +1 more source

Olmsted syndrome with lateral supraciliary madarosis and clubbing: A rare case report

Indian Dermatology Online Journal, 2018
Olmsted syndrome (OS) is a rare congenital, mutilating palmoplantar keratoderma first described by Olmsted in 1927. It starts in the neonatal period or in childhood, and has a slow but progressive disabling course. We report the case of a 16-year-old boy
Md Zeeshan, Abhijeet K Jha, R. K. P Chaudhary   +2 more
doaj   +1 more source

Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]

, 2014
Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V, Hoehndorf, Robert, Schofield, Paul N   +2 more
core   +2 more sources