Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Werner's syndrome].

L Marques1, J Mesquita-Guimarães, M R Ferreira

  • 1Cátedra de Dermatologia e Venereologia, Hospital de S. João, Porto. Portugal.

Medicina Cutanea Ibero-Latino-Americana
|January 1, 1987
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

The Sting Challenge Test Shows High Negative Predictive Value in Patients Receiving Venom Immunotherapy.

Journal of investigational allergology & clinical immunology·2025
Same author

Parental perceptions of early interceptive orthodontic intervention in children and adolescents: a cross-sectional study.

European journal of paediatric dentistry·2025
Same author

Bibliometric analysis in paediatric dental journals listed in journal citation reports. Current trends.

European journal of paediatric dentistry·2022
Same author

The Lights and the Shadows of Controlled Sting Challenge With Hymenoptera.

Journal of investigational allergology & clinical immunology·2022
Same author

Nanohydroxyapatite-Blasted Bioactive Surface Drives Shear-Stressed Endothelial Cell Growth and Angiogenesis.

BioMed research international·2022
Same author

Large Local Reactions to Hymenoptera Stings Negatively Affect Quality of Life to the Same Degree as Systemic Reactions.

Journal of investigational allergology & clinical immunology·2021
Same journal

[Acquired bullous epidermolysis and multiple myeloma].

Medicina cutanea ibero-latino-americana·1990
Same journal

[Eosinophilic ulcer of the tongue. Pathogenic role of eosinophils].

Medicina cutanea ibero-latino-americana·1990
Same journal

[Facial granuloma caused by cactus bristles].

Medicina cutanea ibero-latino-americana·1990
Same journal

[Epithelioid sarcoma. Immunohistochemical study. Therapy with recombinant alfa interferon].

Medicina cutanea ibero-latino-americana·1990
Same journal

[Dyshidrosiform pemphigoid].

Medicina cutanea ibero-latino-americana·1990
Same journal

[Metastatic alopecia].

Medicina cutanea ibero-latino-americana·1990
See all related articles

This case study details a 35-year-old woman with a rare genetic disorder presenting with short stature, skin and muscle atrophy, and joint deformities. Early onset of plantar hyperkeratosis and foot deformities were noted, alongside other distinct symptoms.

Area of Science:

  • Genetics
  • Dermatology
  • Rheumatology

Background:

  • This report focuses on a rare case of a 35-year-old female patient.
  • The patient presented with a unique combination of symptoms affecting multiple organ systems.

Observation:

  • The patient exhibited short stature, facial and limb muscle atrophy, peripheral arthropathies, foot deformities, plantar hyperkeratosis, alopecia, canities, bilateral cataracts, and a bitonal voice.
  • Symptoms began at age 21 with plantar hyperkeratosis, foot deformity, and joint stiffness.

Findings:

  • The patient showed no signs of diabetes mellitus, peripheral arteriopathies, or neoplasms at the time of examination.
  • No family history of the condition or consanguinity was reported.

Implications:

Related Experiment Videos

  • This case highlights a potentially novel genetic syndrome requiring further investigation.
  • Understanding this condition could lead to improved diagnostics and management strategies for similar rare diseases.