Results 41 to 50 of about 434,230 (174)

Cutaneous mosaicisms: concepts, patterns and classifications [PDF]

Anais Brasileiros de Dermatologia, 2013
A mosaic is an organism composed of two or more genetically distinct cell populations derived from a genetically homogeneous zygote. Cutaneous mosaicisms are the clinical expressions of these disorders.
Samara Silva Kouzak, Marcela Sena Teixeira Mendes, Izelda Maria Carvalho Costa   +2 more
doaj   +1 more source

Life-long Skin Eruptions along Blaschko’s Lines in a 27-year-old Woman

Acta Dermato-Venereologica, 2021
is missing (Quiz)
Takahiro Hamada, Kwesi Teye, Eri Katayama, Miyuki Kawamura, Hiroshi Koga, Norito Ishii, Takekuni Nakama   +6 more
doaj   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni, Niccolò Capurro, Alessandro Svizzero, Valeria Brazzelli   +3 more
wiley   +1 more source

Iflaviruses in arthropods: when small is mighty

Insect Science, EarlyView.
Many arthropod species harbor iflaviruses, which often cause covert (asymptomatic) infections, but may still affect host fitness. We review the impact of iflaviruses on arthropod fitness, immunity, behaviour as well as the iflavirus’ host range, transmission, tissue tropism and the interactions with other microorganisms within arthropods.
Annamaria Mattia, Hannah‐Isadora Huditz, Monique M. van Oers, Vera I.D. Ros   +3 more
wiley   +1 more source

Focal dermal hypoplasia (goltz's syndrome) : wide phenotypic variability [PDF]

, 2009
La hipoplasia dérmica focal (MIM# 305600), también llamada hipoplasia mesoectodérmica, es una rara entidad genética con un mecanismo de herencia dominante ligado al cromosoma X.
Acosta Guio, Johanna Carolina, Prieto Rivera, Juan Carlos, Motta Beltrán, Adriana   +2 more
core  

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

The FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon, Kyra Swildens, Vera M. Kalscheuer, Cristina Gontan, Francisco Bustos   +4 more
wiley   +1 more source

Focal dermal hypoplasia (Goltz syndrome): case reports [PDF]

, 1978
CITATION: Derks, B., Gericke, G. S. & Louw, M. 1978. Focal dermal hypoplasia (Goltz syndrome): case reports. South African Medical Journal, 54(1):27-29.The original publication is available at http://www.samj.org.zaTwo children, both with physical ...
Derks, B., Gericke, G. S., Louw, M.
core  

Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

Clinical Case Reports, 2018
Key Clinical Message Here, we report a novel mosaic mutation in the PORCN gene in a male Goltz syndrome patient. We also compare the phenotypes of all reported males with a confirmed molecular diagnosis.
Sofia Frisk, Catherine Grandpeix‐Guyodo, Karin Popovic Silwerfeldt, Helgi Thor Hjartarson, Dimitris Chatzianastassiou, Irina Magnusson, Tobias Laurell, Ann Nordgren   +7 more
doaj   +1 more source

Goltz syndrome with absence of fifth metacarpal and distal phalanx, severe abdominal dehiscence and bladder exstrophy

Indian Journal of Paediatric Dermatology, 2016
Goltz syndrome, also known as focal dermal hypoplasia, is a rare genodermatosis. It is an X-linked dominant disorder characterized by mesoectodermal dysplasia present with cutaneous, ocular, dental, and skeletal defects.
Bharati Sahu, Smita Rani Samal, Prasenjeet Mohanty, Manas Ranjan Puhan   +3 more
doaj   +1 more source