Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Ichthyosis bullosa of Siemens: further delineation of the phenotype.

Archives of dermatological research - 1 Jan 1990

Steijlen P M, Perret C M, Schuurmans Stekhoven J H, Ruiter D J, Happle R

Abstract excerpt

We report a third family affected with ichthyosis bullosa of Siemens, and we further delineate the clinical spectrum of this mild type of epidermolytic hyperkeratosis. Erythroderma had never been present in any of the affected individuals. All of them exhibited a brownish, rimpled hyperkeratosis, the main characteristic sites being the joints, the shins and the periumbilical region. Blistering occurred after...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Epidermis
Share to Ichthyosis
Share to Microscopy, Electron

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Pedigree

Share to Phenotype

Share to Tretinoin

Source

Identifiers

PMID: 2138447
DOI: 10.1007/BF00505636

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ichthyosis bullosa of Siemens: further delineation of the phenotype.PMID 2138447Read ↗

Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literatureSemantic proximity Read ↗

Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene.Semantic proximity Read ↗

Annular epidermolytic ichthyosis: a unique phenotype.Semantic proximity Read ↗

Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma.Semantic proximity Read ↗

A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens.Semantic proximity Read ↗

Self-improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia.Semantic proximity Read ↗

The first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra-Deep Sequence.Semantic proximity Read ↗

Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.Semantic proximity Read ↗

A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.Semantic proximity Read ↗

A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens.Semantic proximity Read ↗

Annular epidermolytic ichthyosis.Semantic proximity Read ↗

Unilateral hyperkeratotic plaques along blaschko lines.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.