Results 61 to 70 of about 1,501 (178)

Adams-Oliver syndrome, a successful conservative approach for a large scalp defect

Journal of Pediatric and Neonatal Individualized Medicine, 2015
Adams-Oliver syndrome was first described in 1945 as a multiple congenital malformations association including aplasia cutis congenita and terminal transverse limb defects, along with cardiovascular and central nervous system anomalies.
Vera Baptista, Albina Silva, Carla Sá, Joana Dias, Ana Raquel Silva, Angélica Osório, Carla Garcez, Almerinda Pereira   +7 more
doaj   +1 more source

Concurrent Sturge-Weber syndrome, facial infantile hemangioma, and cutis marmorata telangiectatica congenita. [PDF]

, 2017
We present a unique case of 3 vascular malformations-Sturge-Weber syndrome (SWS), facial infantile hemangioma (IH), and cutis marmorata telangiectatica congenita (CMTC)-with dermatologic manifestations presenting in the same patient. This case highlights
Poliak, Nina, Rainey, Anthony
core   +1 more source

Ophthalmic Alterations in the Sturge‐Weber Syndrome, Klippel‐Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?

BioMed Research International, Volume 2015, Issue 1, 2015., 2015
The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant transformation. The Sturge‐Weber syndrome, Klippel‐Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port‐wine stain in common.
Solmaz Abdolrahimzadeh, Vittorio Scavella, Lorenzo Felli, Filippo Cruciani, Maria Teresa Contestabile, Santi Maria Recupero, Siavash Rahimi   +6 more
wiley   +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

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

Phacomatosis pigmentovascularis type IIa - case report [PDF]

, 2013
Phacomatosis Pigmentovascularis is a rare syndrome characterized by capillary malformation and pigmentary nevus. A case of a 2-year-old patient is reported, who presented extensive nevus flammeus and an aberrant Mongolian spot, without systemic disease ...
Cristiane Almeida Soares Cattani, Eloísa Unfer Schmitt, Laura Netto Hagemann, Majoriê Mergen Segatto, Roberta Castilhos da Silva   +4 more
core   +2 more sources

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

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

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

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