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

Autosomal recessive epidermolytic palmoplantar keratoderma.

Journal of medical genetics - 1 Aug 1990

Alsaleh Q A, Teebi A S

Abstract excerpt

Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders. Epidermolytic PPK is a well delineated autosomal dominant entity, but no recessive form is known. Here we report two sons of phenotypically normal, consanguineous, Arab parents with features suggestive of PPK. They presented wi...

Topics

Child, Preschool
Consanguinity
Diagnosis, Differential
Humans
Infant
Keratoderma, Palmoplantar
Male
Phenotype
Skin

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 2145438
DOI: 10.1136/jmg.27.8.519
PMCID: PMC1017203

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2145438-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal recessive epidermolytic palmoplantar keratoderma.PMID 2145438Read ↗

Hereditary palmoplantar keratodermas. Part I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features.Semantic proximity Read ↗

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas - Diagnostic algorithm and principles of therapy.Semantic proximity Read ↗

Palmoplantar keratodermas: clinical and genetic aspects.Semantic proximity Read ↗

Hereditary palmoplantar (epidermolytic) keratoderma: illustration through a familial report.Semantic proximity Read ↗

The inherited palmoplantar keratodermas.Semantic proximity Read ↗

Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease.Semantic proximity Read ↗

[Palmoplantar dermatoses: when should genes be considered?].Semantic proximity Read ↗

Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".Semantic proximity Read ↗

Hereditary palmoplantar keratoderma: A practical approach to the diagnosisSemantic proximity Read ↗

Hereditary Palmoplantar KeratodermasSemantic proximity Read ↗

Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins.Semantic proximity Read ↗

A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.Semantic proximity Read ↗

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