Related Experiment Video
Updated: Jun 20, 2026
05:06
Non-Invasive Visualization of Nailbed Microvascular Morphology in Mice Using Capillaroscopy
Published on: February 28, 2025
Pachyonychia congenita type I presenting with subtle nail changes.
Matilde Iorizzo1, Colombina Vincenzi, Frances J D Smith
1Private Practice Dermatologist, Lugano, Switzerland. matildeiorizzo@gmail.com
Pediatric Dermatology
|August 20, 2009
Summary
Pachyonychia congenita type I, a genetic disorder, typically causes nail abnormalities. This report highlights that mild nail changes can still indicate this condition, even without severe thickening.
Area of Science:
- Genetics
- Dermatology
- Clinical Medicine
Background:
- Pachyonychia congenita type I is an inherited disorder.
- Nail abnormalities are a hallmark symptom of this condition.
- Symptoms typically manifest during childhood.
Observation:
- A family with pachyonychia congenita type I was studied.
- This family presented with unusually mild nail changes.
- The severity of nail abnormalities varied within the family.
Findings:
- Pachyonychia congenita type I can present with subtle nail findings.
- Diagnosis should be considered even with minimal nail manifestations.
- Genetic analysis confirmed pachyonychia congenita type I in the affected family.
Implications:
- Broadens the diagnostic criteria for pachyonychia congenita type I.
- Highlights the importance of clinical vigilance for rare genetic disorders.
- Suggests further research into genotype-phenotype correlations in pachyonychia congenita.
Related Concept Videos
01:05Accessory Structures of the Skin: Nails
Nails are one of the important accessory structures of the skin. They are hard, protective structures that cover the dorsal surface of the distal phalanges of fingers and toes. Nails are composed of specialized keratinized cells and serve various functions, including protection, sensation, and manual dexterity.
The main components of a nail include the following.
Nail Plate: The nail plate is the visible portion of the nail that extends beyond the fingertips or toes. It is a hard, translucent...
The main components of a nail include the following.
Nail Plate: The nail plate is the visible portion of the nail that extends beyond the fingertips or toes. It is a hard, translucent...
01:31Types of Intermediate Filaments
The intermediate filaments are an essential component of the cytoskeleton. Presently six types of intermediate filament have been identified. Type I and II are acidic and basic keratin proteins. Type III is of mesodermal origin and comprises four proteins: vimentin, desmin, glial fibrillary acidic protein (GFAP), and peripherin. Vimentin is commonly found in mesenchymal cells, desmin in muscle cells, GFAP in astrocytes, while peripherin is found in peripheral nervous system neurons (PNS). Type...
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...
01:33Pleiotropy
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,...
01:14Changes in Skin Color: Clinical Perspectives
The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
01:11Papillary Dermis
Dermis
The dermis might be considered the "core" of the integumentary system, as distinct from the epidermis and hypodermis. It contains blood and lymph vessels, nerves, and other structures, such as hair follicles and sweat glands. The dermis is made of two layers of connective tissue that comprise an interconnected mesh of elastin and collagenous fibers, produced by fibroblasts.
Papillary Layer
The papillary layer is made of loose, areolar connective tissue, which means the collagen and...
The dermis might be considered the "core" of the integumentary system, as distinct from the epidermis and hypodermis. It contains blood and lymph vessels, nerves, and other structures, such as hair follicles and sweat glands. The dermis is made of two layers of connective tissue that comprise an interconnected mesh of elastin and collagenous fibers, produced by fibroblasts.
Papillary Layer
The papillary layer is made of loose, areolar connective tissue, which means the collagen and...