Results 31 to 40 of about 1,818 (165)

NEMO‐NDAS: Case Report and Review of the Literature

Pediatric Dermatology, EarlyView.
ABSTRACT NEMO‐deleted exon 5 autoinflammatory syndrome (NEMO‐NDAS) is the result of a gain‐of‐function IKBKG pathogenic variant leading to dysregulated NF‐κB signaling and systemic inflammation. We present a case of NEMO‐NDAS in a 2‐year‐old female presenting with recurrent fevers, subcutaneous nodules, lymphadenopathy, and splenomegaly.
Angela Yang, Kristie Mar, Kimberly A. Morishita, Kevin Meesters, Antonio Torrelo, Joseph M. Lam   +5 more
wiley   +1 more source

WHO classification of skin tumours: key updates in the fifth edition

Histopathology, Volume 88, Issue 3, Page 555-568, February 2026.
This review article summarizes the key updates in the 5th edition of the WHO Classification of Skin Tumours. It provides an overview of the major changes and new entities specific to the skin section, covering areas such as epidermal, melanocytic, mesenchymal and other tumours. The 5th edition of the World Health Organization Classification of Tumours (
Gabrielle Goldman‐Lévy, Raymond Barnhill, Boris C. Bastian, Werner Kempf, David Elder, Pedram Gerami, Wayne Grayson, Dmitry Kazakov, Daniela Massi, Jane Messina, Arnaud de la Fouchardière, Alexander J. Lazar, Thomas Brenn, Brian Rous, Andrew Field, Anthony Gill, Jennelle C. Hodge, Joseph D Khoury, Katia Leite, Shahin Sayed, Puay Hoon Tan, Rosalie Elenitsas, Eduardo Calonje, Lyn M. Duncan, Liang Zhiyong, Holger Moch, Rajendra Singh, Harshima Wijesinghe, Ian Cree, Dilani Lokuhetty   +29 more
wiley   +1 more source

Incontinência pigmentar ligada ao X ou síndrome de Bloch-Sulzberger: relato de um caso X-linked incontinentia pigmenti or Bloch-Sulzberger syndrome: a case report

Anais Brasileiros de Dermatologia, 2010
A incontinência pigmentar é uma genodermatose rara, ligada ao X, que afeta, principalmente, neonatos do sexo feminino. As manifestações cutâneas são as mais prevalentes, e ocorrem em quatro fases bem distintas. Lactente feminina com lesões vesicobolhosas
Marcela A. C. Pereira, Lismary A. de F. Mesquita, Anelise R. Budel, Carolina S. P. Cabral, Amanda de S. Feltrim   +4 more
doaj   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Incontinentia pigmenti presenting as hypodontia in a 3-year-old girl: a case report

Journal of Medical Case Reports, 2009
Introduction Incontinentia pigmenti or Bloch-Sulzberger syndrome is a rare X-linked dominant disease that mainly affects the skin, eyes, hair, central nervous system and teeth. The disease is predominant among women.
Kitakawa Dárcio, Fontes Patrícia, Magalhães Fernando, Almeida Janete, Cabral Luiz   +4 more
doaj   +1 more source

Two male patients with incontinentia pigmenti [PDF]

Vojnosanitetski Pregled, 2010
Background. Incontinentia pigmenti (IP) is a rare, complex, X-linked genodermatosis in which skin changes are combined with defects of other organs. It appears almost exclusively in females and is usually lethal in men.
Minić Snežana, Novotny Gerd E.K., Medenica Ljiljana, Obradović Miljana, Stefanović Bratislav, Trpinac Dušan   +5 more
doaj   +1 more source

Incontinencia pigmenti

Actas Dermo-Sifiliográficas, 2019
Incontinentia pigmenti (Bloch-Sulzberger syndrome) is a rare neuroectodermal dysplasia. It is an X-linked dominant disorder caused by mutations in the IKBKG/NEMO gene on Xq28. Approximately 80% of patients have a deletion of exons 4 to 10. Incontinentia pigmenti has an estimated incidence of 0.7 cases per 100,000 births.
CammarataScalisi F, Fusco F, Ursini M V
openaire   +5 more sources

Pigmentary Mosaicism: An Overview

JEADV Clinical Practice, Volume 4, Issue 3, Page 681-689, August 2025.
Pigmentary mosaicism is reflected by a patterned hypo‐, hyperpigmentation, or both combined in cutis tricolour. Pigmentary mosaicism can be associated with extracutaneous features (mainly neurological, musculoskeletal or ophthalmological). Three main mechanisms are involved in the development of pigmentary mosaicism: mosaicism for a chromosomal ...
C. Colmant, E. Legius, N. Cattaert, M.‐A. Morren   +3 more
wiley   +1 more source

Sporadic case of incontinentia pigmenti in identical twins

Indian Journal of Paediatric Dermatology, 2017
Incontinentia pigmenti (IP) is a rare genodermatoses with multisystem involvement. Monochorionic diamniotic twins are presented with characteristic skin manifestation and ocular and neurological involvement.
Shekhar Neema, Subhash Chandra Shaw, Sweta Mukherjee   +2 more
doaj   +1 more source

Categories of Cutaneous Mosaicism

JEADV Clinical Practice, Volume 4, Issue 3, Page 652-658, August 2025.
ABSTRACT In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders.
Rudolf Happle
wiley   +1 more source