Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Mal de Meleda

Synonyms

Keratosis palmoplantaris transgrediens of Siemens

Definitions

A rare diffuse palmoplantar keratoderma characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.

ID

http://www.orpha.net/ORDO/Orphanet_87503

alternative_term

Keratosis palmoplantaris transgrediens of Siemens

Transgrediens palmoplantar keratoderma of Siemens

Meleda disease

definition

A rare diffuse palmoplantar keratoderma characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87503

has_age_of_onset

Childhood

Infancy

has_inheritance

Autosomal recessive

hasDbXref

ICD-11:EC20.30

ICD-10:Q82.8

UMLS:C0025221

OMIM:248300

label

Mal de Meleda

notation

ORPHA:87503

part_of

http://www.orpha.net/ORDO/Orphanet_98356

prefixIRI

ORDO:Orphanet_87503

prefLabel

Mal de Meleda

present_in

Worldwide AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_98356

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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