Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Pleiotropy

Pleiotropy

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,...

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

Skin Diseases and Disorders

Skin 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...

Sex-linked Disorders

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

Papillary Dermis

Papillary 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...

Pedigree Analysis

Pedigree Analysis

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Barriers to seeking mental health services among young persons with mental disorders in South India: a qualitative study.

East Asian archives of psychiatry : official journal of the Hong Kong College of Psychiatrists = Dong Ya jing shen ke xue zhi : Xianggang jing shen ke yi xue yuan qi kan·2025

Same author

Repeated FRAP of the actin-binding protein CapG in the cell nucleus-a functional assay for EGF signaling in the single live breast cancer cell.

Scientific reports·2024

Same author

Anatomical and Functional Evaluation of Modified Abbe-McIndoe Vaginoplasty at a Tertiary Care Hospital.

Nigerian journal of clinical practice·2024

Same author

A Real-World Comparative Effectiveness Analysis of Thromboprophylactic Use of Enoxaparin Versus Unfractionated Heparin in Abdominal Surgery Patients in a Large U.S. Hospital Database.

Hospital pharmacy·2022

Same author

The TRIXS end-station for femtosecond time-resolved resonant inelastic x-ray scattering experiments at the soft x-ray free-electron laser FLASH.

Structural dynamics (Melville, N.Y.)·2020

Same author

Online survey about anesthesia-related practice and patient safety in Indian hospitals.

Journal of healthcare quality research·2020

Search research articles

Related Experiment Video

Updated: Jun 24, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Keratoderma hereditarium mutilans (Vohwinkel syndrome).

M Sinha¹, S B Watson

¹Canniesburn Plastic Surgery Unit, Glasgow Royal Infirmary, Glasgow UK. drmanish@hotmail.com

The Journal of Hand Surgery, European Volume

|March 14, 2009

Summary

Vohwinkel syndrome (Keratoderma hereditarium mutilans) surgery often leads to poor long-term outcomes and recurrence. Surgical intervention is best reserved for cases with neurovascular compromise.

Area of Science:

Dermatology
Genetics
Plastic Surgery

Background:

Vohwinkel syndrome, a rare genetic disorder, causes palmoplantar hyperkeratosis and constricting digital rings.
Surgical management for this condition is infrequently reported, with previous attempts yielding unfavorable long-term results.

Observation:

This study presents two cases of Vohwinkel syndrome managed surgically, with follow-up periods of 5 and 8 years.
The cases involved the use of full-thickness grafts to address contractures, a technique previously attempted with limited success.

Findings:

Surgical correction of contractures in Vohwinkel syndrome proved technically achievable but difficult to maintain long-term.
Full-thickness grafts used for lining released contractures became raised and painful, necessitating multiple revisions and resulting in poor overall outcomes.

More Related Videos

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Related Experiment Videos

Last Updated: Jun 24, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Implications:

The findings suggest that current surgical techniques, including the use of full-thickness grafts, are not effective for long-term management of Vohwinkel syndrome contractures.
Surgical intervention for Vohwinkel syndrome should be strictly indicated for neurovascular compromise, as other approaches yield suboptimal results.