Epidermolysis bullosa simplex with mottled pigmentation

disorder

SNOMED 254180002CUI C0432316

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Intra-epidermal blistering

Always present (100%)HP:0033802

Small fifth toenail

Always present (100%)HP:0011937

Abnormal blistering of the skin

Very frequent (80-99%)HP:0008066

Junctional split

Very frequent (80-99%)HP:0003341

Mixed hypo- and hyperpigmentation of the skin

Very frequent (80-99%)HP:0009123

Reticulated skin pigmentation

Very frequent (80-99%)HP:0007427

Skin fragility with non-scarring blistering

Very frequent (80-99%)HP:0007585

Stippled pigmentation

Very frequent (80-99%)HP:0001070

Hyperkeratotic papule

Frequent (30-79%)HP:0045059

Hyperpigmented macules

Frequent (30-79%)HP:0001034

Hypomelanotic macule

Frequent (30-79%)HP:0009719

Nail dysplasia

Frequent (30-79%)HP:0002164

Palmar hyperkeratosis

Frequent (30-79%)HP:0010765

Patchy hypopigmentation

Frequent (30-79%)HP:0005590

Plantar hyperkeratosis

Frequent (30-79%)HP:0007556

Bullae of oral mucosa

Occasional (5-29%)HP:0200097

Cutaneous photosensitivity

Occasional (5-29%)HP:0000992

Dental anomalies

Occasional (5-29%)HP:0000164

Hair loss

Occasional (5-29%)HP:0001596

Milia

Occasional (5-29%)HP:0001056

Discrete 2 to 5-mm hyper- and hypopigmented macules

HP:0007494

Dystrophic nails

HP:0008404

Dystrophic thickened nails

HP:0001805

Mottled pigmentation of the trunk and proximal extremities

HP:0007438

Punctate palmoplantar hyperkeratosis

HP:0007530

Related Conditions

Epidermolysis bullosa simplex(parent)

Quick Facts

SNOMED CT: 254180002
UMLS CUI: C0432316
Fully Specified Name: Epidermolysis bullosa simplex with mottled pigmentation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.