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Related Concept Videos

Parkinson Disease l: Introduction01:24

Parkinson Disease l: Introduction

Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of which...
Huntington Disease l: Introduction01:21

Huntington 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,...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Peripheral Artery Disease I: Introduction01:30

Peripheral Artery Disease I: Introduction

Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
Diabetic Retinopathy01:27

Diabetic Retinopathy

DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...
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Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...

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Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus
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Linear Darier disease.

Mariame Meziane1, Rim Chraibi, Nadia Kihel

  • 1Department of Dermatology, Ibn Sina Hospital, Rabat, Morocco. mariame_meziane@yahoo.fr

Dermatology Online Journal
|March 7, 2009
PubMed
Summary
This summary is machine-generated.

Linear Darier disease, a rare genodermatosis, can manifest in a zosteriform pattern. This case highlights a unique presentation of Darier disease on the right lower limb, suggesting genetic mosaicism.

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Area of Science:

  • Dermatology
  • Genetics
  • Medical Case Reports

Background:

  • Darier disease is a rare autosomal dominant genodermatosis.
  • It typically presents with verrucous papules in seborrheic areas.
  • Linear Darier disease is an exceptionally rare variant.

Observation:

  • A case of linear Darier disease is presented.
  • The condition affected the right lower limb.
  • The distribution followed a zosteriform pattern.

Findings:

  • The case demonstrates a rare linear manifestation of Darier disease.
  • The zosteriform pattern suggests potential genetic mosaicism in this autosomal dominant disorder.
  • This presentation expands the known clinical spectrum of Darier disease.

Implications:

  • Understanding rare variants like linear Darier disease is crucial for accurate diagnosis.
  • Genetic mosaicism may play a role in atypical presentations of genodermatoses.
  • Further research into Darier disease variants can improve patient management and genetic counseling.