Orphanet: Clinical Signs and Symptoms

Clinical Signs and Symptoms

ORPHA:35125 Epidermal nevus syndrome

The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.

Diagnostic criterion *

Nevus HP:0003764

* Phenotypic abnormalities noted as « diagnostic criterion » are those included in established sets of criteria to establish the diagnosis of a particular disease having been published in a peer-reviewed journal.

Clinical signs and symptoms

Very frequent

Nevus HP:0003764

Frequent

Atrophy of the spinal cord HP:0006827
Hyperpigmentation of the skin HP:0000953
Hypopigmentation of the skin HP:0001010
Pain HP:0012531
Progressive spastic paraparesis HP:0007199
Spinal canal stenosis HP:0003416
Spinal cord compression HP:0002176

Occasional

Abnormality of brain morphology HP:0012443
Areflexia HP:0001284
Astigmatism HP:0000483
Babinski sign HP:0003487
Delayed speech and language development HP:0000750
Global developmental delay HP:0001263
Hypertonia HP:0001276
Lipoma HP:0012032
Spinal cord tumor HP:0010302
Thoracolumbar scoliosis HP:0002944
Visual impairment HP:0000505
Weakness of long finger extensor muscles HP:0009077

Rare

Abnormal facial shape HP:0001999
Aortic dilatation HP:0001724
Low levels of vitamin D HP:0100512
Osteopenia HP:0000938
Polycystic kidney dysplasia HP:0000113
Rhabdomyosarcoma HP:0002859

Additional information

Further information

Disease(s)/group of diseases

Specialised Social Services

Eurordis directory

Warning

The information provided is based on published scientific articles.

The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.

The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.

Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.