[Hutchinson-Gilford syndrome]
U Wollina1, A Reuter, H Schaarschmidt
1Klinik und Poliklinik für Hautkrankheiten, Friedrich-Schiller-Universität, Jena.
Summary
This case report details the skin lesion findings in a child with Hutchinson-Gilford syndrome (progeria). Histopathology revealed specific cellular and structural changes in the skin, offering insights into this rare condition.
Area of Science:
- Dermatopathology
- Rare Genetic Disorders
Background:
- Hutchinson-Gilford syndrome, also known as progeria, is an extremely rare premature aging disorder.
- Skin manifestations are common in progeria, but detailed histopathological data are scarce.
Observation:
- A case of a 6-year-old boy with Hutchinson-Gilford syndrome was analyzed.
- Skin lesions presented as subcutaneous amorphous nodules and atrophic epidermis with basal cell degeneration.
Findings:
- Nodules were eosinophilic and negative for PAS, elastica, collagen type IV, vimentin, and collagenase.
- Perivascular infiltration showed CD4+ and vimentin-positive cells.
- Increased and thickened blood vessels with swollen collagen bundles were observed.
Implications:
- These findings contribute to the understanding of the histopathology of progeria.
- Detailed characterization of skin lesions may aid in future diagnostic and therapeutic strategies for progeria.
Related Concept Videos
01:11Genetic Lingo
Overview
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
01:27Glucose Transporters
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
01:19Autism Spectrum Disorder
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
01:21Hyperosmolar Hyperglycemic State
Hyperosmolar Hyperglycemic State, or HHS, is a serious and life-threatening complication of type 2 diabetes mellitus. It is characterized by three main features: severe hyperglycemia, profound dehydration, and elevated serum osmolality, all occurring without significant ketoacidosis.HHS typically develops in older adults or individuals with limited access to fluids. This may result from illness, cognitive impairment, or medications such as diuretics or corticosteroids. These factors reduce...
01:21Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...