Results 121 to 130 of about 517,181 (258)

Collodion Baby with TGM1 gene mutation

International Medical Case Reports Journal, 2015
Deepak Sharma,1 Basudev Gupta,2 Sweta Shastri,3 Aakash Pandita,1 Smita Pawar4 1Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, 2Department of Pediatrics, Civil Hospital, Palwal, Haryana, 3Department of Pathology, NKP ...
Sharma D, Gupta B, Shastri S, Pandita A, Pawar S   +4 more
doaj  

Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)

Journal of Cutaneous Pathology, EarlyView.
Cathal O'Connor, Neidín Bussmann, Sarah Ni Mhaolcatha, Cynthia Heffron, Sally O'Shea   +4 more
wiley   +1 more source

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2 ‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source

Invasive ocular surface squamous neoplasia in congenital ichthyosiform erythroderma

TNOA Journal of Ophthalmic Science and Research, 2017
We report an invasive type of ocular surface squamous neoplasia (OSSN) in a patient with congenital ichthyosiform erythroderma. A male patient aged 44 years, with ichthyosis presented with progressively growing right corneal mass, with decreasing vision.
Dhivya Ashok Kumar, Sasikala Nindra Krishna   +1 more
doaj   +1 more source

Harlequin Ichthyosis: A Case Report

Clinical Case Reports, Volume 13, Issue 7, July 2025.
ABSTRACT Harlequin ichthyosis (HI) is a genetic disorder caused by ABCA12 gene mutations, presenting with thick, scaly skin and deep fissures. Early recognition, intensive neonatal care, and multidisciplinary management are crucial for improving survival and quality of life. Treatment focuses on skin hydration, infection prevention, and supportive care
Shoaib Akhtar, Adeel Anwaar, Inam Ul Haq, Hazaq Mukhtar, Sabir Jamal, Muhammad Muzammil, Aymar Akilimali   +6 more
wiley   +1 more source

Characteristic Analysis of Ultrasound Diagnosis of Limb Body Wall Complex in Early Pregnancy

Prenatal Diagnosis, Volume 45, Issue 8, Page 1004-1012, July 2025.
ABSTRACT This study aims to explore the diagnostic value of prenatal ultrasound in limb body wall complex (LBWC) during pregnancy and to improve the understanding of LBWC for early ultrasound diagnosis. The ultrasound data and follow‐up results of 107 cases of LBWC (predominantly diagnosed in the first trimester) from the Third Affiliated Hospital of ...
Lingling Zhang, Rui Wang, Yueshu Zhao, Juan Wu, Hezhou Li, Mengna Li   +5 more
wiley   +1 more source

Congenital malformations at a referral hospital in Gorgan, Islamic Republic of Iran [PDF]

, 2005
This study recorded the rate of congenital malformations in 10 000 births at a referral hospital in Gorgan, Islamic Republic of Iran in 1998-99. The overall incidence of congenital malformations was 1.01% (1.19% in males and 0.76% in females).
Ahmadpour-Kacho, M., Golalipour, M.J., Vakili, M.A.   +2 more
core  

Combined medical and surgical management for cicatricial ectropion in lamellar ichthyosis: A report of three cases

Indian Journal of Ophthalmology, 2020
Ichthyosis is a rare inherited skin disorder characterized by abnormal keratinization of the epidermis. Cicatricial ectropion is the most common ophthalmic feature of congenital ichthyosis.
Nirmala Subramanian, Pratheeba Devi Nivean, Md Shahid Alam   +2 more
doaj   +1 more source

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.

Acta Dermato-Venereologica, 2016
Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4th subtype
M. Pigg, A. Bygum, A. Gånemo, M. Virtanen, F. Brandrup, A. Zimmer, A. Hotz, A. Vahlquist, J. Fischer   +8 more
semanticscholar   +1 more source

Neuroichthyosis With a De Novo Variant c.494C>T in ELOVL1 and Severe Pruritus Relieved by Dupilumab

Pediatric Dermatology, Volume 42, Issue 4, Page 844-848, July/August 2025.
ABSTRACT We report a patient with neuroichthyosis with an ELOVL1 variant associated with severe pruritus who responded well to dupilumab therapy. Our case is the third known patient reported with this de novo heterozygous dominant variant. The feature of severe progressive pruritus greatly impairing quality of life is unique among these reports.
Danielle Marcoux, Sophie‐Anne Savard, Victor Kokta, Elsa Rossignol, Luis H. Ospina   +4 more
wiley   +1 more source