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Suspect dyskeratotic neoformations in a 7-year-old child with keratitis-ichthyosis-deafness syndrome: diagnostic, surgical and wound care management.
Dermatol Reports
November 2024
Plastic Surgery Unit, Department of Neuroscience, University of Padua.
Keratitis-ichthyosis-deafness syndrome (KID) is a rare genetic disorder characterized by the triad of hyperkeratosis, ichthyosis, and congenital prelingual sensorineural deafness, with less than 100 cases described in the literature. In addition to many other extra-cutaneous manifestations, these patients are burdened by two principal increased risk factors involving the skin: the risk of developing infections and the risk of developing malignant skin tumors, especially Squamous Cell Carcinoma and Trichilemmal tumors. We present the case of a 7-year-old girl with a unique genetic variant described to date, who developed 4 dyskeratotic neoformation.
View Article and Find Full Text PDFRapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergol Select
October 2024
Center for Child and Adolescent Health, Helios Hospital Krefeld, Academic Hospital of RWTH Aachen, Krefeld.
Article Synopsis
- Primary atopic disorders (PAD) are rare genetic conditions caused by specific gene variants that affect skin and immune function, making diagnosis challenging among common allergic disease cases.
- Identifying PAD requires recognizing clinical red flags like family history and unusual infections, as conventional lab tests are inadequate for definitive diagnosis.
- Whole-genome sequencing (WGS) enhances diagnostic efficiency and accuracy, but requires careful interpretation and collaboration among specialists to effectively manage PAD cases.
Cochlear implantation in syndromic patients: difficulties and lessons learnt.
Eur Arch Otorhinolaryngol
January 2025
Otorhinolaryngology Department Faculty of Medicine, Ain Shams University, Ramses Street, Abasseyia Square, Cairo, 11566, Egypt.
Article Synopsis
- The study aimed to evaluate the prevalence of syndromes among children receiving cochlear implants, focusing on inner and middle ear malformations, as well as the surgical challenges faced.
- Out of 1024 children studied, 4.3% were diagnosed with syndromes, with Jervell and Lange Nielsen syndrome and Waardenberg syndrome being the most common, and most cases showing no inner ear malformations.
- Despite some inner and middle ear anomalies noted during surgery, the overall outcomes for syndromic patients were comparable to those without syndromes, emphasizing the need for individualized assessments in managing hearing loss.
H Syndrome: Three New Cases from Morocco.
Skinmed
August 2024
Department of Dermatology Faculty of Medicine and Pharmacy, Mohammed VI University Hospital, Cadi Ayyad University, Marrakesh, Morocco.
A 19-year-old girl presented with symmetric and bilateral hyperpigmentation, an indurated lesion that initially appeared on the axillary fold at the age of 14, which then extended to the lower back, anterior aspect of both thighs, and popliteal fold. No hypertrichosis was observed (Figure 1).The patient was the youngest of the four children, born from the first-degree consanguineous marriage.
View Article and Find Full Text PDFOSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome.
Biochim Biophys Acta Mol Basis Dis
June 2024
Department of Dermatology, The Fourth Affiliated Hospital of Soochow University (Suzhou Dushu Lake Hospital; Medical Center of Soochow University), 215125 Suzhou, China. Electronic address:
Purpose: In this study, we identified and diagnosed a novel inherited condition called Dyschromatosis, Ichthyosis, Deafness, and Atopic Disease (DIDA) syndrome. We present a series of studies to clarify the pathogenic variants and specific mechanism.
Methods: Exome sequencing and Sanger sequencing was conducted in affected and unaffected family members.
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