Results 81 to 90 of about 10,708 (219)

H Syndrome with Atypical Presentation – A Diagnostic Enigma

Journal of Dermatology and Dermatologic Surgery
H syndrome is a rare autosomal recessive genodermatosis characterized by cutaneous manifestations and other systemic involvement. It presents with features like hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, hallux valgus ...
Sowmya S. Aithal, Vinupriya Sakkaravarthi, K. Gopalakrishnan, Anitha Chakravarthy   +3 more
doaj   +1 more source

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. [PDF]

, 2017
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly ...
A Dauber, A Ramu, Alex Henderson, Angus Clarke, C Wells, CA Martin, CF Wright, D D D Study, D Lehalle, D Trujillano, David R FitzPatrick, Fiona Stewart, Franziska Roessler, HV Firth, J Thevenon, Jane Hurst, JBGM Verheij, Jonathan Zonana, Julie Vogt, Julien Thevenon, Kaja K Selmer, Karen J Low, Katrina Tatton-Brown, Kory Keller, M Ansari, M Kircher, M Tooley, Magnus D Vigeland, Marjolaine Willems, Mark Greenslade, MD Vigeland, Michael C Schneider, ML Hastings, Morad Ansari, Paul Kuentz, Rami Abou Jamra, S El Chehadeh, Salima El Chehadeh, Sarah F Smithson, SB Patel, Trine Prescott   +40 more
core   +3 more sources

First Detection of 1p36 Deletion by Whole‐Exome Sequencing in a Tunisian Patient

Birth Defects Research, Volume 118, Issue 1, January 2026.
ABSTRACT Study Objective We reported a rare case of 1p36 deletion syndrome diagnosed using whole‐exome sequencing (WES) in a Tunisian neonate, and to highlight the utility of WES in detecting structural variants, particularly in resource‐limited settings.
Nesrine Kerkeni, Maher Kharrat, Lilia Kraoua, Ahlem Achour, Faouzi Maazoul, Ridha Mrad, Mediha Trabelsi   +6 more
wiley   +1 more source

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype

The Application of Clinical Genetics, 2018
Harry Pachajoa,1,2 William López-Quintero,3 Sara Vanegas,1 Claudia L Montoya,3 Diana Ramírez-Montaño1 1Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi ...
Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D   +4 more
doaj  

Polycystic ovary syndrome: a dermatologic approach [PDF]

, 2011
Polycystic ovary syndrome (POS) is one of the most common endocrine abnormalities affecting women of reproductive age. It is a cause of significant social embarrassment and emotional distress.
Bagatin, Edileia, Costa, Dailana Louvain Marinho, Manela-azulay, Mônica, Moura, Heloisa Helena Gonçalves De, Sodré, Celso Tavares   +4 more
core   +3 more sources

Clinical and Genetic Analysis of SMARCC2‐Related Diseases in Three Chinese Patients

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
In this article, we investigate the pathogenesis of three unrelated Chinese children who exhibited mild to moderate developmental delay, mild intellectual disability, facial dysmorphism, mild speech delay, hypotonia, feeding difficulties, brain abnormalities, attention deficit hyperactivity disorder (ADHD), and autistic behaviors. Furthermore, both the
Shan Ou, Shujie Zhang, Qi Yang, Qiang Zhang, Xunzhao Zhou, Qinle Zhang, Xiuliang Rong, Nana Qi, Jiale Qian, Bibing Xi, Ranran Lin, Shengkai Wei, Jingyu Su, Zailong Qin, Jingsi Luo   +14 more
wiley   +1 more source

Skin changes in chronic lymphatic filariasis [PDF]

, 2017
Seventeen men and 31 women with unilateral lower limb lymphoedema attributed to chronic lymphatic filariasis were examined in the filarial out-patient clinic of the Government General Hospital, Madras, India.
Burri, Haran, Kumaraswami, V., Loutan, Louis, Vijayasekaran, V.   +3 more
core  

Trichomegaly of the eyelashes during therapy with epidermal growth factor receptor inhibitors: report of 3 cases [PDF]

, 2012
A wide spectrum of skin toxicities has been described in patients receiving epidermal growth factor receptor (EGFR), inhibitors, including papulopustular rash, xerosis and fissures, pruritus, mucositis, paronychia, and hair changes.Trichomegaly of the ...
AYALA, FABIO, Bianca D, CACCIAPUOTI, SARA, FABBROCINI, GABRIELLA, PANARIELLO, LUIGIA   +4 more
core   +1 more source

Chronic neuropathic facial pain after intense pulsed light hair removal. Clinical features and pharmacological management [PDF]

, 2015
Intense Pulsed Light (IPL) photodepilation is usually performed as a hair removal method. The treatment is recommended to be indicated by a physician, depending on each patient and on its characteristics.
Gay Escoda, Cosme, Moreno Arias, Gerardo A., Párraga Manzol, Gabriela, Sánchez Torres, Alba   +3 more
core   +1 more source

H Syndrome retrospectively diagnosed: The importance of recognizing cutaneous signs

Clinical Case Reports, 2020
We present a case of a retrospectively diagnosed H syndrome in a man who died of a probable heart infarction. We highlight the importance of recognizing cutaneous hallmarks of this syndrome for better clinical management and prevention.
Aurora Parodi, Emanuele Cozzani
doaj   +1 more source