Epidermolysis bullosa simplex due to plakophilin deficiency

disorder

SNOMED 716699004CUI C1858302

Overview

Epidermolysis bullosa simplex due to plakophilin deficiency is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Absent eyebrows

Always present (100%)HP:0002223

Aplasia of eyelashes

Always present (100%)HP:0000561

Dystrophic fingernails

Always present (100%)HP:0008391

Missing scalp hair

Always present (100%)HP:0002293

Palmoplantar blistering

Always present (100%)HP:0007446

Palmoplantar keratosis

Always present (100%)HP:0000972

Sweating dysfunction

Always present (100%)HP:0000970

Dystrophic nails

Very frequent (80-99%)HP:0008404

Fragile skin

Very frequent (80-99%)HP:0001030

Keratoderma

Very frequent (80-99%)HP:0000982

Alopecia universalis

Frequent (30-79%)HP:0002289

Gait disturbance

Frequent (30-79%)HP:0001288

Hypohidrosis

Frequent (30-79%)HP:0000966

Perioral dermatitis

Frequent (30-79%)HP:0040181

Scaling skin

Frequent (30-79%)HP:0040189

Thin, sparse hair

Frequent (30-79%)HP:0008070

Undergrowth

Frequent (30-79%)HP:0001508

Abnormal tongue morphology

Occasional (5-29%)HP:0030809

Blister

Occasional (5-29%)HP:0008066

Cheilitis

Occasional (5-29%)HP:0100825

Chronic diarrhoea

Occasional (5-29%)HP:0002028

Decreased body height

Occasional (5-29%)HP:0004322

Hyperkeratosis follicularis

Occasional (5-29%)HP:0007502

Infection in blood stream

Occasional (5-29%)HP:0100806

Misshapened teeth

Occasional (5-29%)HP:0006482

Multiple pulmonary infections

Occasional (5-29%)HP:0006532

Perianal fistula

Occasional (5-29%)HP:0005218

Rotting teeth

Occasional (5-29%)HP:0000670

Scarring

Occasional (5-29%)HP:0100699

Skin infections, recurrent

Occasional (5-29%)HP:0001581

Related Conditions

Autosomal recessive epidermolysis bullosa simplex(parent)

Quick Facts

SNOMED CT: 716699004
UMLS CUI: C1858302
Fully Specified Name: Epidermolysis bullosa simplex due to plakophilin deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.