Results 71 to 80 of about 2,039 (202)

Phacomatosis cesioflammea with cutis marmorata-like lesions and unusual extracutaneous abnormalities: Is it a distinct disorder?

Indian Journal of Dermatology, 2017
A 2-month-old boy was presented with widespread lateralized blue macules (nevus cesius), an extensive nevus flammeus, and large patches of cutis marmorata telangiectatica congenita. Moreover, he had macrocephaly, a coarse facial appearance with depressed
Shyam B Verma, Hitesh K Desai, Vishal N Shah, Rudolf Happle   +3 more
doaj   +1 more source

Transient Cutaneous Alterations of the Newborn [PDF]

, 2021
Neonatal cutaneous alterations are common, usually appearing at birth or during the first few days of life. Most of these conditions are physiological, benign, and transient, arising from a combination of immaturity of the newborn skin with environmental
Catarina Quieros, Cristina Tapadinhas, Mafalda Casinhas Santos, Paulo Filipe, Rita Pimenta   +4 more
core   +1 more source

Vascular Malformation and Common Keratinocytic Nevus of the Soft Type: Phacomatosis Pigmentovascularis Revisited

Case Reports in Dermatological Medicine, Volume 2014, Issue 1, 2014., 2014
Phacomatosis pigmentovascularis is a rare syndrome characterized by the coexistence of a pigmented nevus and a cutaneous vascular malformation. We report a 5‐year‐old boy with all the typical findings of phacomatosis pigmentovascularis type Ia. Although its existence according to the traditional classification has been questioned, this case represents ...
André Laureano, Rodrigo Carvalho, Cristina Amaro, Isabel Freitas, Jorge Cardoso, Kowichi Jimbow   +5 more
wiley   +1 more source

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly [PDF]

, 2017
Mutations of genes within the phosphatidylinositol-3-kinase (PI3K)-AKT-MTOR pathway are well known causes of brain overgrowth (megalencephaly) as well as segmental cortical dysplasia (such as hemimegalencephaly, focal cortical dysplasia and ...
Aaron M Wenger, Adeline Jacquinet, Anand Saggar, Andrew E Timms, Anna Lehman, Arya, Baek, Barkovich, Carpten, Chi Cheng, Chiara Pantaleoni, Cho, Chung, Conti, Crino, Diana Alcantara, Enrico Alfei, Fiona Stewart, Garg, Ghayda M Mirzaa, Gill Bejerano, Harada, Harendra Guturu, Hemming, Hussain, Jamuar, Jansen, John M Graham Jr., Jonathan A Bernstein, Karen Gripp, Kaylee Park, Keppler-Noreuil, Laura Baker, Lee, Lindhurst, László Sztriha, Margot I Van Allen, Mark O’Driscoll, Melinda Zombor, Mirzaa, Mirzaa, Mirzaa, Mirzaa, Mirzaa, Nakamura, Natalia Gomez-Ospina, Negishi, Nellist, Oana Caluseriu, Parikh, Park, Poduri, Renzo Guerrini, Riviere, Robert Hevner, Ronit Mesterman, Sarah Collins, Sarju G Mehta, Slavotinek, Sofia Ygberg, Takagi, Tokuda, Ute Moog, Valerio Conti, Wang, Wieck, William B Dobyns, Wilson, Yang   +68 more
core   +3 more sources

Phenotype‐to‐Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study

Prenatal Diagnosis, Volume 45, Issue 1, Page 3-14, January 2025.
ABSTRACT Objective To evaluate phenotype and genotype characteristics of fetuses and children with upper limb anomalies. Method Retrospective cohort study of a prenatal and postnatal cohort with upper limb anomalies from January 2007 to December 2021 in a Fetal Medicine Unit.
Arda Arduç, Sandra J. B. van Dijk, Feikje J. ten Cate, Margriet H. M. van Doesburg, Ingeborg H. Linskens, Elisabeth van Leeuwen, Merel C. van Maarle, Eva Pajkrt   +7 more
wiley   +1 more source

Features of the course of stis associated with HIV infection [PDF]

, 2023
The purpose of the study. Compare the number of cases and the incidence rate depending on gender and age in the early 2000s and in 2020 in some developed countries and demonstrate a clinical case of multiple chancre.Цель исследования. Сравнить количество
Gurkovskaya, E. P., Mohamed, M. H., Savchenko, N. V., Sin, A. V., Гурковская, Е. П., Мохамед, М. Х., Савченко, Н. В., Син, А. В.   +7 more
core  

Patchy Dermal Melanocytosis: Differential Diagnosis and Management

Journal of Cosmetic Dermatology, Volume 24, Issue 1, January 2025.
ABSTRACT Background Nevus of Ito and Mongolian spots are distinct clinical presentations of patchy dermal melanocytosis, characterized by similar dermatological manifestations that can pose diagnostic difficulties for clinicians. Aim This review aims to consolidate current understanding and research advancements on these conditions to facilitate ...
Jiafang Zhu, Qingqing Cen, Rui Chang, Yue Han, Xiaoxi Lin   +4 more
wiley   +1 more source

A Neonate Diagnosed with Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome with Mutation [PDF]

, 2023
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare genetic disorder characterized by megalencephaly, polymicrogyria, body overgrowth, and cutaneous capillary malformations. It has been reported recently that MCAP is related to
Hyun-Seung Jin, Seong Hee Oh, Yoon-Myung Kim, Young Mi Park   +3 more
core   +1 more source

Cutaneous neonatal lupus with cutis marmorata telangiectatica congenita-like lesions Lúpus cutâneo neonatal com lesões semelhantes à cutis marmorata telangiectatica congênita

Anais Brasileiros de Dermatologia, 2013
Neonatal lupus is a rare disease caused by the transplacental transfer of maternal autoantibodies to the foetus, characterized by transient clinical manifestations such as cutaneous, haematological, and hepatobiliary events or permanent such as ...
Flávia Trevisan, Paulo Rowilson Cunha, Clóvis Antonio Lopes Pinto, Fernanda Gomes Cattete   +3 more
doaj  

Cutis Marmorata Telangiectatica and Chiari Type I

Pediatric Neurology Briefs, 2003
A 10-year-old girl born with telangiectasias of the lip, trunk, extremities, palms, and soles was found to have an asymptomatic Chiari I malformation without syringomyelia on MRI, and is reported from Children’s Hospital, Alabama.
J Gordon Millichap
doaj   +1 more source