Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/jdv.12410 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Diagnosis of perianal pyramidal protrusion in infants.
Dermatol Online J
October 2024
Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida.
Infantile perianal pyramidal protrusion is characterized by a light pink to skin-colored soft tissue protrusion that is often midline and anterior [A1]to the anus. It most commonly occurs in young females and is relatively asymptomatic. Although biopsies are not routinely done, histopathology is relatively nonspecific and can appear similar to an acrochordon.
View Article and Find Full Text PDFPurpose Of Review: Vulvar skin disease is an underrecognized pediatric condition encompassing a wide range of conditions, from isolated vulvar disease to vulvar manifestations of systemic illnesses. This review highlights the most current research discussing clinical features, risk factors, and treatments.
Recent Findings: Recent studies confirm that labial adhesions resolve more quickly with estrogen treatment.
Beyond Skin Deep: A Case Report of Infantile Systemic Hyalinosis in a Six-Month-Old Infant.
Cureus
May 2024
Pathology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
A rare autosomal recessive condition called infantile systemic hyalinosis (ISH) is characterized by early-onset skin lesions that progress to the formation of numerous contractures. The underlying disease is the progressive accumulation of hyaline substances in many tissues. We are presenting the case of a male infant who was referred for evaluation and management at the age of six months.
View Article and Find Full Text PDFHyaline fibromatosis syndrome: a rare, yet recognizable syndrome.
Turk J Pediatr
May 2024
Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.
Background: Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of amorphous hyaline material in connective tissues. The hallmarks of the disease are joint contractures, generalized skin stiffness, hyperpigmented papules over extensor surfaces of joints, fleshy perianal masses, severe diarrhea, and gingival hypertrophy.
View Article and Find Full Text PDFGenomic testing identifies monogenic causes in patients with very early-onset inflammatory bowel disease: a multicenter survey in an Iranian cohort.
Clin Exp Immunol
June 2024
Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Article Synopsis
- - The study focused on 16 Iranian patients with very early-onset inflammatory bowel disease (VEO-IBD), aiming to explore the role of underlying genetic issues related to inborn errors of immunity (IEI) in this condition.
- - Most patients were young (median age of 43.5 months), with symptoms starting around 4 months; common signs included chronic diarrhea and perianal diseases, with a notable prevalence of consanguinity among parents.
- - Whole exome sequencing (WES) revealed genetic variants in 81.3% of patients, highlighting notable gene mutations like IL10RB, and emphasizing the need for genetic evaluation in early-onset IBD cases due to the high incidence of mon
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!