Reduced number of alveoli after birth in rats exposed to iron in utero.

Background: Clinical studies have shown that diffuse chorioamniotic hemosiderosis (DCH) is a risk factor for bronchopulmonary dysplasia (BPD). However, the details of the underlying mechanism are unknown. We focused on iron, one of the blood components that diffuses within the amniotic cavity in DCH.

Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature.

We describe a 1-day old female with features of keratitis-ichthyosis-deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration.

Main genetic entities associated with tooth agenesis.

Background: Tooth agenesis refers to the absence of one or more of the deciduous or permanent teeth. Tooth agenesis results from a series of disrupted reciprocal ectodermal mesenchymal interactions taking place during the early stages of tooth development.

Methods: A narrative literature review was performed to describe the main genetic syndromes associated with tooth agenesis.

Bart syndrome with musculoskeletal deformity: a rare case report.

Introduction: Bart syndrome is a rare genetic disorder characterized by epidermolysis bullosa (EB), aplasia cutis congenita, that is congenital local absence of skin and nail abnormalities.

Case Presentation: The authors herein, present a case of a 14-year-old boy with Bart syndrome. The syndrome was diagnosed clinically.

A fully human IgG1 antibody targeting connexin 32 extracellular domain blocks CMTX1 hemichannel dysfunction in an in vitro model.

Connexins (Cxs) are fundamental in cell-cell communication, functioning as gap junction channels (GJCs) that facilitate solute exchange between adjacent cells and as hemichannels (HCs) that mediate solute exchange between the cytoplasm and the extracellular environment. Mutations in the GJB1 gene, which encodes Cx32, lead to X-linked Charcot-Marie-Tooth type 1 (CMTX1), a rare hereditary demyelinating disorder of the peripheral nervous system (PNS) without an effective cure or treatment. In Schwann cells, Cx32 HCs are thought to play a role in myelination by enhancing intracellular and intercellular Ca signaling, which is crucial for proper PNS myelination.

A Novel Approach to Aplasia Cutis Congenita With PolyNovo BTM.

Aplasia cutis congenita (ACC) is a rare congenital condition characterized by the absence of skin and subcutaneous tissue, typically affecting the scalp. This case report presents a female infant born at 38+3 weeks with a posterior midline scalp defect measuring 15×12.5 mm, involving skin, subcutaneous tissue, and calvarium.

From Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in RHOA on Ectodermal Dysplasia With Multi-System Involvement.

Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies (EDFAOB) is a rare neuroectodermal syndrome caused by somatic mosaic mutations in the RHOA gene. It presents with linear skin hypopigmentation, facial and limb asymmetry, dental and acral anomalies, and leukoencephalopathy, generally preserving intellectual and neurological functions. We report two cases of EDFAOB.

Speech Aid Prostheses For Patients With Cleft and Other Craniofacial Birth Conditions.

Normal speech production is a complex mechanism requiring the coordination of several organs of the oral cavity. The lip, hard and soft palates, and teeth all play a role in normal speech production. In cases of craniofacial birth conditions such as cleft lip and palate or ectodermal dysplasia, one or more of these areas may be compromised.

An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia.

We report a case of a patient with genetic sequencing-confirmed X-linked hypohidrotic ectodermal dysplasia without the typical characteristic hair growth abnormalities with the disorder. While this patient had already received guidance from a genetic counselor about his condition, many cases of ectodermal dysplasia go underdiagnosed or misdiagnosed due to mild or atypical presentations. With gene therapies emerging, the authors hope to highlight the importance of recognizing the disorder in patients who have not yet received a diagnosis to better manage their clinical course and guide future life decisions.

Corrigendum: A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism [Genes Genet. Syst. (2023) 98, p. 171-178].

The ClinVar accession number on p. 176 (SCV002817173) should be replaced with the correct number, SCV002817373. The PDF file for DOI: https://doi.

Neurocutaneous Melanocytosis-Associated Hydrocephalus: The Memorial Sloan Kettering Experience from 2001 to 2022.

We report two neurocutaneous melanocytosis (NCM) patients who required ventriculoperitoneal shunt placement and subsequently developed intraperitoneal melanoma. These patients with NCM are at an increased risk for developing NRAS-associated melanomas in the central nervous system, which in turn may lead to symptomatic hydrocephalus requiring cerebrospinal fluid diversion. Due to the rarity of NCM, current knowledge on disease progression and appropriate management is limited.

Identification of two novel genetic variants for Ellis-van Creveld syndrome from a Chinese family through whole exome sequencing.

Objective: This study conducted genetic testing and analysis on the fetal tissue of a terminated pregnancy to clarify the cause of the fetal abnormalities.

Methods: A fetus with multiple malformations detected during mid-pregnancy was terminated. Trio whole exome sequencing (Trio-WES) was performed on the fetal tissue.

Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR.

Hypohidrotic Ectodermal Dysplasia is a syndrome with hypotrichosis, hypohidrosis, and hypodontia as the main symptoms. The prevalence is estimated to one in 5000-10,000 persons. In 10-15% the disease is caused by pathogenic variants in EDAR, and most of the known causal variants to date are missense or nonsense variants.