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

Search research articles

Related Experiment Videos

Epidermolysis bullosa simplex with mottled pigmentation.

L Bruckner-Tuderman¹, A Vogel, S Rüegger

¹Department of Dermatology, University Hospital of Zürich, Switzerland.

Journal of the American Academy of Dermatology

|August 1, 1989

Summary

This study describes a rare case of epidermolysis bullosa simplex with mottled pigmentation, a skin disorder characterized by blistering and distinctive skin discoloration. Findings reveal intraepidermal splitting and basement membrane abnormalities, offering insights into this rare condition.

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

Cisplatin-gemcitabine-durvalumab reintroduction in advanced biliary tract cancer: a multinational real-world analysis.

ESMO open·2026

Same author

Baseline neutrophil-to-eosinophil ratio and neutrophil-to-lymphocyte ratio as prognostic markers in patients with unresectable biliary tract cancer treated with gemcitabine-cisplatin-durvalumab: an international, multicentre, retrospective cohort study.

ESMO gastrointestinal oncology·2026

Same author

ESMO podcast on upper GI cancers: highlights in hepatocellular carcinoma and pancreatic cancer from ESMO 2025.

ESMO gastrointestinal oncology·2026

Same author

Editorial: Immune Checkpoint Inhibitors in Hepatocellular Carcinoma Prior to Liver Transplantation-Current Evidence and Future Directions. Authors' reply.

Alimentary pharmacology & therapeutics·2026

Same author

ESMO adaptation of Lines of Systemic Therapy (EnLiST): a consensus framework for standardising the designation of lines of therapy in solid tumours.

Annals of oncology : official journal of the European Society for Medical Oncology·2026

Same author

Quantitative benefit-risk assessment of data from the phase III ClarIDHy study of ivosidenib versus placebo in patients with m<i>IDH1</i> cholangiocarcinoma.

ESMO gastrointestinal oncology·2026

Area of Science:

Dermatology
Genetics
Cell Biology

Background:

Epidermolysis bullosa simplex (EBS) is a group of inherited blistering skin disorders.
Mottled pigmentation is an unusual clinical finding in EBS.
Understanding the cellular and molecular basis of EBS subtypes is crucial for diagnosis and potential therapies.

Observation:

A patient presented with clinical features of epidermolysis bullosa simplex, including skin blistering on extremities that healed without scarring, slight skin atrophy, and prominent mottled pigmentation on the trunk.
Histological examination of unaffected skin revealed intraepidermal splitting within basal keratinocytes, focal basal cell hyperpigmentation, and pigment incontinence.
Immunofluorescence and electron microscopy showed focal basement membrane zone discontinuity and structural abnormalities, alongside normal hemidesmosomes and anchoring fibrils.

Related Experiment Videos

Findings:

The primary defect in this patient's epidermolysis bullosa simplex appears to involve intraepidermal blistering and basement membrane abnormalities.
The striking mottled pigmentation is associated with focal hyperpigmentation and pigment incontinence in the basal epidermis.
Electron microscopy confirmed basal keratinocyte alterations and subnuclear splitting, with partial adherence to an irregularly structured basement membrane.

Implications:

This case expands the clinical spectrum of epidermolysis bullosa simplex, highlighting the association with mottled pigmentation.
The findings suggest a complex interplay between keratinocyte fragility, basement membrane integrity, and pigment distribution in this subtype of EBS.
Further research into the genetic and molecular mechanisms underlying these combined features may lead to improved diagnostic markers and therapeutic strategies for epidermolysis bullosa simplex.