Related Experiment Video
Updated: May 23, 2026
10:27
Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
Published on: December 15, 2011
Ichthyosiform eruption in a patient with Dubowitz syndrome
T Kato1, H Komatsu, A Sakakibara
1Department of Dermatology, Tohoku University School of Medicine, Sendai, Japan.
Pediatric Dermatology
|June 1, 1995
Summary
Dubowitz syndrome, a rare genetic disorder, typically causes growth and intellectual deficits. This report details a unique case involving unusual ichthyosiform skin changes, expanding the known clinical spectrum.
Area of Science:
- Genetics
- Dermatology
- Pediatrics
Background:
- Dubowitz syndrome is a rare autosomal recessive disorder.
- It is characterized by growth retardation, microcephaly, intellectual disability, craniofacial anomalies, and eczematous skin lesions.
Observation:
- This report describes a patient with Dubowitz syndrome.
- The patient presented with ichthyosiform skin changes.
Findings:
- The case highlights an association between Dubowitz syndrome and ichthyosiform skin changes.
- This presentation expands the dermatological manifestations of the syndrome.
Implications:
- This finding may aid in earlier diagnosis of Dubowitz syndrome.
- Further research into genotype-phenotype correlations is warranted.
- Understanding the spectrum of skin findings is crucial for comprehensive patient care.
Related Concept Videos
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,...
01:23Skin Diseases and Disorders
Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
01:25Endocarditis II: Clinical Features of Infective Endocarditis
Endocarditis can present various clinical features depending on the causative organism and the patient's underlying health conditions. Initially, the clinical features of infective endocarditis develop gradually, presenting with nonspecific symptoms that can be easily mistaken for other illnesses.General SymptomsEarly symptoms of infective endocarditis are fever, chills, weakness, malaise, fatigue, and weight loss. These symptoms reflect the systemic nature of the infection and the body's...
01:22Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
01:28Graves' Disease I: Introduction
Graves' disease is an autoimmune disorder that causes hyperthyroidism, or overactivity of the thyroid gland. It results from autoantibodies called thyroid-stimulating immunoglobulins (TSIs), which bind to thyroid-stimulating hormone (TSH) receptors, leading to overstimulation of hormone production and a hypermetabolic state.EtiologyAlthough considered idiopathic, Graves’ disease has well-established contributing factors. There is a strong genetic component, with increased prevalence in...
01:20Inflammatory Bowel Disease IV: Clinical Manifestations
Inflammatory bowel disease (IBD) encompasses two major chronic disorders—ulcerative colitis and Crohn’s disease—each characterized by relapsing episodes of gastrointestinal inflammation. Although they share certain clinical features, their patterns of involvement and manifestations differ in ways that aid diagnosis and guide management.Ulcerative ColitisUlcerative colitis is limited to the colon and rectum and involves continuous inflammation of the mucosal layer. The disease course is marked...