Results 1 to 10 of about 6,899 (169)

Mal de Meleda : a case successfully treated with acitretin

PAMJ Clinical Medicine, 2020
Mal de Meleda (MdM) is an autosomal recessive form of palmoplantar keratoderma, that is characterized by transgradient keratoderma with associated scleroatrophy, nail changes, pseudoainhum around digits and perioral erythema, without a tendency for ...
Kaoutar Achehboune, Hanane Baybay, Sara Elloudi, Fatima Zahra Mernissi   +3 more
doaj   +1 more source

Annular epidermolytic ichthyosis: a case report and literature review, [PDF]

Anais Brasileiros de Dermatologia, 2020
Annular epidermolytic ichthyosis is a rare subtype of epidermolytic ichthyosis that is characterized by erythematous, polycyclic, and migratory scaly plaques accompanied by palmoplantar keratoderma. This report presents the case of an 8-year-old girl who
Emanuella Stella Mikilita, Irina Paipilla Hernandez, Ana Letícia Boff, Ana Elisa Kiszewski   +3 more
doaj   +2 more sources

Darier disease—A review highlighting new insights from the Darier Disease International Task Force

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 10, Page 1626-1647, October 2026.
This review provides a global, clinically focused overview of DD, detailing cutaneous and extracutaneous manifestations, disease classification and severity scoring. It emphasizes early recognition, multidisciplinary management and practical guidance for dermatologists to apply evidence‐based care in diverse skin phototypes. Abstract Darier disease (DD)
Sofia Labbouz, Alain Hovnanian, Grace Xiong, Dedee Frances Murrell, Simon M. Mueller, Khaled Ezzedine, Nessa Aghazadeh Mohandesi, Ahmed Salem Aldhaheri, Nissim Asayag, Eulalia Baselga, Chen Nadler, Keith Choate, Chia‐Yu Chu, John Robert Edminister, Emmanuella Guenova, Melis Gönülal, Antoni Gostynski, Ankan Gupta, Lalit Kumar Gupta, Juliette Mazereeuw‐Hautier, Wolfram Hoetzenecker, Peter Itin, Marek Jankowski, Akiharu Kubo, Haur Yueh Lee, Julia Scott Lehman, Anfisa Lepekhova, Márta Medvecz, Jemima E. Mellerio, Verena Moosbrugger‐Martinz, Amy S. Paller, Dóra Plázár, Amadeu José Rodrigues Queiróz, Josep Riera‐Monroig, Ralph Rosa, Matthias Schmuth, Maella Severino Freire, Itzhak Shabat, Jonathan Shapiro, Cory L. Simpson, Diego Soto‐García, Alexander J. Stratigos, Gianluca Abel Tadini, Takuya Takeichi, Kaushal K. Verma, Jakob D. Wikström, Alexander Zink, Michael Ziv, Alexander Navarini, Roni Pircha Dodiuk‐Gad   +49 more
wiley   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, Volume 270, Issue 1, Page 83-97, September 2026.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Schopf–Schulz–Passarge syndrome

Indian Dermatology Online Journal, 2018
Schopf–Schulz–Passarge syndrome (SSPS) is a rare type of ectodermal dysplasia that has autosomal recessive inheritance. It is characterized by palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy, and multiple periocular and eyelid ...
Kinjal D Rambhia, Vidya Kharkar, Sunanda Mahajan, Uday S Khopkar   +3 more
doaj   +1 more source

Mapping malignant T‐cell states and immune circuits in Sézary syndrome by single‐cell analysis

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 9, Page 1535-1549, September 2026.
Peripheral blood single‐cell RNA‐seq from leukaemic CTCL defined three malignant T‐cell programmes: MTC CM, MTC Reg and MTC E/EM, each with distinct features and candidate vulnerabilities. For example, inferred immune circuits highlighted actionable IL‐10/JAK–TYK2–STAT3 signalling, KIR–MHC I inhibitory interactions and myeloid/B‐cell inflammatory and ...
Beth A. Childs, Eslam A. Elghonaimy, Praveen Ramakrishnan Geethakumari, Kiran A. Kumar, Joseph F. Merola, Heather W. Goff, Todd A. Aguilera   +6 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

Cutis Verticis Gyrata Across the Diagnostic Spectrum: Two Cases Highlighting Challenges in Clinical Classification

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Cutis verticis gyrata (CVG) is an uncommon disorder characterized by cerebriform thickening of the scalp that may occur as a primary condition or secondary to a variety of systemic disorders. We report two patients with clinically distinct presentations of CVG illustrating the diagnostic challenges encountered during classification.
Sanket Bishokarma, Shiwani Sharma Acharya, Goma Dhami   +2 more
wiley   +1 more source

Mutilating keratoderma with concomitant alopecia and keratoses follicularis spinulosa decalvans: X-linked olmsted syndrome and its response to isotretinoin

Indian Dermatology Online Journal, 2017
We report a case of mutilating keratoderma with alopecia and keratoses follicularis spinulosa decalvans (KFSD), which was initially diagnosed as ectodermal dysplasia and Olmsted syndrome but was revisited as a case of X-linked Olmsted (XLO) syndrome.
Gunjan Verma, Kabir Sardana, R K Gautam
doaj   +1 more source

A novel central line securement vest reduces line trauma and improves quality of life in patients with intestinal failure

JPGN Reports, Volume 7, Issue 3, Page 416-421, August 2026.
Abstract Objective We sought to assess the impact of a novel central line securement vest on the rate of line complications (trauma, infections, and replacements), and measures of quality of life (QOL) in pediatric patients with intestinal failure. Methods We enrolled patients at a single tertiary pediatric center.
Ryan E. St. Pierre‐Hetz, Kimberly S. Ackerman, Angelica M. Cercone, Jane Anne Yaworski, Clifton W. Callaway, Jeffrey A. Rudolph, Mioara D. Manole   +6 more
wiley   +1 more source