Related Experiment Video
Updated: Mar 6, 2026

08:07
Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin
Published on: March 24, 2023
2.3K
Onychogryphosis in tuberous sclerosis complex: an unusual feature
Xiang-Chun Han1, Li-Qiang Zheng2,3, Tie-Gang Zheng3
1The First Affiliated Hospital to Hebei North University - Zhangjiakou, China.
Anais Brasileiros De Dermatologia
|March 17, 2017
Summary
Onychogryphosis, a severe nail disorder resembling a ram's horn, can be associated with Tuberous Sclerosis Complex. This case highlights the challenges in treating these distinctive nail changes in patients with TSC.
Area of Science:
- Dermatology and Genetics
- Nail Disorders
- Connective Tissue Diseases
Background:
- Onychogryphosis is an acquired nail condition causing thickened, distorted, and elongated nails, often resembling a ram's horn.
- Tuberous Sclerosis Complex (TSC) is a genetic disorder affecting multiple organ systems, frequently associated with neurological and developmental issues.
- Nail abnormalities can occur in TSC patients, causing significant distress and pain due to distortion and potential complications.
Observation:
- A patient with typical Tuberous Sclerosis Complex presented with characteristic onychogryphosis of the toenails.
- The nail deformities were severe, exhibiting the classic 'ram's horn' appearance, posing significant clinical challenges.
- The patient's presentation underscored the dermatological manifestations of TSC.
Findings:
- The case demonstrates a clear association between Tuberous Sclerosis Complex and severe onychogryphosis.
- The distinctive 'ram's horn' nail morphology in a TSC patient presented considerable difficulties for surgical intervention and nail reconstruction.
- This highlights the importance of recognizing nail changes as a potential indicator of underlying systemic conditions like TSC.
Implications:
- Early identification of nail changes in TSC patients can lead to timely management and improved patient outcomes.
- Understanding the link between TSC and onychogryphosis aids in surgical planning and patient counseling.
- Further research into the pathogenesis of nail abnormalities in TSC may reveal novel therapeutic targets.
Related Concept Videos
Disorders of the Skeletal Muscle
2.1K
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
2.1K
Pleiotropy
43.7K
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,...
43.7K
X-linked Traits
59.2K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
59.2K
Bones of the Lower Limb: Tibia and Fibula
13.9K
The tibia is the main weight-bearing bone of the lower leg. It is larger than the fibula with which it is paired. The tibia is also the second longest bone in the body and is located right below the skin. The proximal end of the tibia forms the medial and the lateral condyle, which articulates with the condyles of the femur to form the knee joint. Between the articulating surfaces is the irregular elevated area known as the intercondylar eminence that serves as the inferior attachment point for...
13.9K
Bones of the Upper Limb: Ulna
10.3K
The ulna and radius are parallel bones of the antebrachium or the forearm. The ulna lies medially and consists of a bony tip called the olecranon process at its proximal end. This hook-like projection articulates with the olecranon fossa of the humerus and forms the "hinged" ulnohumeral part of the elbow joint. This joint facilitates forearm extension and flexion while preventing its hyperextension. Similarly, the coronoid process, another bony projection on the proximal/anterior side...
10.3K
The Retinoblastoma Gene
4.9K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.9K

