Results 91 to 100 of about 14,748 (240)

Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-κB. [PDF]

, 2015
Pityriasis rubra pilaris (PRP) is a rare inflammatory papulo-squamous disorder manifesting with palmoplantar keratoderma and follicular hyperkeratotic papules which tend to coalesce into large, scaly, erythematous plaques often progressing to exfoliative
Andrews, Jonathan, Fuchs-Telem, Dana, Jin Chung, Hye, Keller, Matthew, Kingman, Joshua, Li, Qiaoli, Ross, Nicholas, Sarig, Ofer, Sprecher, Eli, Uitto, Jouni   +9 more
core   +2 more sources

A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death [PDF]

, 2018
Erythrokeratodermia variabilis et progressiva (EKV-P) is caused by mutations in either the GJB3 (Cx31) or GJB4 genes (Cx30.3). We identified a rare GJB3 missense mutation, c.134G>A (p.G45E), in two unrelated patients and investigated its cellular ...
Alboulshi, A. K., Broers, M. R., Brouns, G. H., Coull, Barry. J., Easton, J. A., Kamps, M. A. F., Martin, P. E., Oji, V., van Geel, M., van Steensel, M. A. M.   +9 more
core   +5 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: A Case Report of Two Brothers

Indian Journal of Paediatric Dermatology
Olmsted syndrome is a rare disease characterized by severe mutilating transgradient keratoderma with prominent periorificial hyperkeratosis. A total of 73 cases have been reported worldwide.
Surendra Singh Bhati, Anmol Bhargava, Pramey Deshpande, Swati Sahu   +3 more
doaj   +1 more source

Classical Juvenile Pityriasis Rubra Pilaris Treated With Secukinumab: Case Report and a Review of Biological Treatments in the Pediatric Population

Pediatric Dermatology, Volume 42, Issue 6, Page 1214-1220, November/December 2025.
ABSTRACT Pityriasis rubra pilaris (PRP) is a rare, chronic papulosquamous disorder with limited treatment options in pediatric patients. We report the case of a 9‐year‐old boy with juvenile PRP (type III), who achieved complete disease remission after treatment with secukinumab, an IL‐17A inhibitor, following initial therapeutic resistance to topical ...
Zeno Fratton, Giuseppe Stinco, Enzo Errichetti   +2 more
wiley   +1 more source

Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis and Knuckle Pads (PLACK) Syndrome: An Updated Review of Cases and Identification of a Recurrent CAST Variant in Two Patients

Pediatric Dermatology, Volume 42, Issue 6, Page 1239-1247, November/December 2025.
ABSTRACT Peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK) syndrome (OMIM616295) is an exceptionally rare autosomal recessive genodermatosis caused by loss‐of‐function pathogenic variants in the CAST gene, encoding calpastatin.
Fiona Haxho, Richard M. Haber, Janan Mohamad, Ofer Sarig, Eli Sprecher, Renée Perrier, Dana Boctor, Michele Ramien   +7 more
wiley   +1 more source

Leukoencephalopathy and Keratoderma

Pediatric Neurology Briefs, 1995
A new familial neurocutaneous syndrome consisting of palmoplantar keratoderma (PPK) and adult-onset leukoencephalopathy is reported in four siblings from Hadassah University Hospital, Jerusalem, Israel.
J Gordon Millichap
doaj   +1 more source

Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma

Frontiers in Genetics, 2019
Epidermolytic palmoplantar keratoderma (EPPK, OMIM 144200) is an autosomal dominant inherited disease, clinically characterized by diffuse yellowish thickening of the skin on the palms and soles, usually with erythematous borders developing during the ...
Yuwei Li, L. Tang, Yang Han, Li-Yun Zheng, Q. Zhen, Sen Yang, M. Gao   +6 more
semanticscholar   +1 more source

Early Neonatal Death in Harlequin Ichthyosis: A Case Report and Literature Review

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Harlequin ichthyosis is a rare, life‐threatening neonatal disorder often mistaken for collodion baby. We report a 37‐week neonate with severe ectropion, eclabium, and thick fissured scales who died on Day 2 despite optimal care. This case highlights the diagnostic challenges, intensive management needs, and poor prognosis of Harlequin ...
Ahmed Alanzi, Dawood Alatefi, Malik Alkabazi, Bano Alsaleh, Amir Fouad, Islam Al Oraby   +5 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