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

Conradi-Hünermann syndrome with unilateral distribution

M R Corbí1, J S Conejo-Mir, M Linares

  • 1University School of Medicine, Virgen del Rocío University Hospital, Seville, Spain.

Pediatric Dermatology
|August 28, 1998
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

Higher rate of pathologic complete response in patients with early-onset locally advanced rectal cancer.

ESMO gastrointestinal oncology·2026
Same author

Subcutaneous emphysema as an airway emergency following tracheostomy closure.

Revista espanola de anestesiologia y reanimacion·2026
Same author

Cancer therapy-related cardiac dysfunction after radiation therapy for breast cancer: results from the BACCARAT cohort study.

Cardio-oncology (London, England)·2024
Same author

Features and frequency of use of electronic health records in primary care across 20 countries: a cross-sectional study.

Public health·2024
Same author

Comparative performance of vulvovaginal swab sampling versus endocervical sampling for the detection of Chlamydia, Gonorrhea, Mycoplasma genitalium, and Trichomoniasis: a cross-sectional study in Spain.

Revista clinica espanola·2024
Same author

[Awareness of chemsex, pre-exposure prophylaxis, and sexual behavior in primary health care in Spain].

Semergen·2023
Same journal

Pediatric Dermatology Multidisciplinary Clinics: A Survey of Division Leaders.

Pediatric dermatology·2026
Same journal

Supplemental Nutrition Assistance Program (SNAP), Skin Health, and Equity in Pediatric Populations: Integrating Nutrition Policy Into Dermatologic Care.

Pediatric dermatology·2026
Same journal

Perianal Erosive Plaque: Diagnostic Challenge.

Pediatric dermatology·2026
Same journal

Can Systemic Treatment for Childhood Psoriasis Be Stopped in Cases of Remission? Data From the ACMe Cohort.

Pediatric dermatology·2026
Same journal

Adverse Childhood Experiences and Pediatric Dermatology: Implications for Care, Equity, and Research.

Pediatric dermatology·2026
Same journal

State-of-the-Art Review: Vaccination in Pediatric Dermatology Patients Receiving Immunosuppressive or Immunomodulatory Therapy: A Review.

Pediatric dermatology·2026
See all related articles

Conradi-Hünermann syndrome, a rare skeletal dysplasia, presents with diverse symptoms. This case highlights key diagnostic features and the importance of histopathology in differentiating it from similar conditions like CHILD syndrome.

Area of Science:

  • Medical Genetics
  • Dermatology
  • Pediatric Radiology

Background:

  • Conradi-Hünermann syndrome is a spectrum of chondrodysplasia punctata.
  • Genetic factors contribute to its varied clinical presentation.

Observation:

  • A preterm infant presented with unilateral ichthyosiform erythroderma, ipsilateral leg shortening, and ocular opacity.
  • Skin biopsy revealed hyperkeratosis and follicular involvement.

Findings:

  • Radiologic evaluation at two months showed stippled calcifications in the ribs and spine.
  • The clinical and histopathological findings were crucial for diagnosis.

Implications:

  • Accurate diagnosis is vital for appropriate management of Conradi-Hünermann syndrome.

Related Experiment Videos

  • Histopathology aids in distinguishing Conradi-Hünermann syndrome from CHILD syndrome, emphasizing the need for comprehensive diagnostic approaches.