Journal: Frontiers in Medicine
Article Title: Naegeli-Franceschetti-Jadassohn syndrome: a systematic review of case studies
doi: 10.3389/fmed.2025.1453172
Figure Lengend Snippet: Study Characteristics of the included studies in our systematic review.
Article Snippet: Belligni et al. ( ) , Original article , Case 1 8 years Case 2 3 years , Both males , Not mentioned , Case 1 elder sister had bilateral hearing lossCase 2 Not mentioned , Case 1 A reticulate hyperpigmen tation was evident over his whole body, and most marked on forehead, nose, thorax and abdomen, and which was raised on the limbs and hypopigmented spots on face and limbs Case 2 A mottled skin hyperpigmen tation with small areas of depigmentation was spread all over the body, less pronounced on the cheeks, the nose and around the eyes , Case 1 A skin biopsy showed a completely normal dermis and subcutis, and no increased sensitivity for UV light was found. Case 2 A skin biopsy detected apoptosis in the basal layer and mild degree of pigment incontinence , Case 1 Standard chromosome analysis showed a normal male karyotype (46, XY) and CGH array (BlueGnome CytoChip; 0.7 Mb) failed to show an imbalance. KRT14, TERC and TINF2 (exon 6) analysis (for Autosomal Dominant dyskeratosis congenita) did not detect any mutations. Case 2 Classical chromosome analysis showed a normal male karyotype (46, XY) and CGH array (BlueGnome CytoChip; 0.7 Mb) failed to show an imbalance. , Case 1 His skin was otherwise dry, and careful inspection of the tips of his fingers showed markedly under developed fingerprints. Hair and nails were normal. Hands and feet were normally shaped. He had poor anterior teeth thought to represent bottle cariescase 2 His skin was dry, and sweating was decreased. , Case 1 immunologic studies, which showed transient lowered levels of IgG and IgA and neutropenia. Bone marrow analysis confirmed the neutropenia without any other abnormalities. Plasma and urine amino acids profile, urine organic acids, free and acylcarnitine and plasma very long chain fatty acids profile, blood lactate/pyruvate ratio, urine NAG/creatinine ratio, purine metabolisms, thyroid hormone analysis all gavenormal results , Case 1 Brain MRI showed prominence of cerebellar fissures and fourth ventricle, otherwise the brain had a normal anatomy. A skeletal survey and abdominal ultrasound gave normal results.case 2 A skeletal survey showed generalized osteopenia, a delayed bone age, and some tapering of distal phalanges at hands and feet , Case 1 He showed a high nasal bridge, prominent nose, and his columella extended well below the alae. His ears showed additional soft skin covering the upper parts, as can be seen after bleedings in ear cartilage, but significant ear trauma were denied by the parents. Bilateral pale optic disks case 2 He had a narrow face, upslanted palpebral fissures, proptosis, epicanthic folds, , Case 1 18 months Case 2 first months , Not mentioned.
Techniques: Mutagenesis, Sequencing, Activity Assay, In Vitro, Functional Assay, Starch, Membrane, Clinical Proteomics, Methylation, Comparison, Diagnostic Assay
