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MedGen UID:
Concept ID:
Congenital Abnormality; Disease or Syndrome
Synonyms: Keratosis palmoplantaris transgradiens of Siemens; KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS; Mal de Meleda; MDM; Meleda Disease
SNOMED CT: Acroerythrokeratoderma (239069005); Mal de Meleda (239069005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Gene (location): SLURP1 (8q24.3)
Monarch Initiative: MONDO:0009552
OMIM®: 248300
Orphanet: ORPHA87503


Mal de Meleda (MDM) is a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma (PPK), keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities (summary by Fischer et al., 2001). [from OMIM]

Additional description

From MedlinePlus Genetics
Mal de Meleda is a rare skin disorder that begins in early infancy. Affected individuals have a condition known as palmoplantar keratoderma, in which the skin of the palms of the hands and soles of the feet becomes thick, hard, and callused. In mal de Meleda, the thickened skin is also found on the back of the hands and feet and on the wrists and ankles. In addition, affected individuals may have rough, thick pads on the joints of the fingers and toes and on the elbows and knees. Some people with mal de Meleda have recurrent fungal infections in the thickened skin, which can lead to a strong odor. Other features of this disorder can include short fingers and toes (brachydactyly), nail abnormalities, red skin around the mouth, and excessive sweating (hyperhidrosis).  https://medlineplus.gov/genetics/condition/mal-de-meleda

Clinical features

From HPO
MedGen UID:
Concept ID:
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Congenital symmetrical palmoplantar keratosis
MedGen UID:
Concept ID:
Congenital Abnormality
MedGen UID:
Concept ID:
Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.
MedGen UID:
Concept ID:
Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Perioral erythema
MedGen UID:
Concept ID:
Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.
Fragile nails
MedGen UID:
Concept ID:
Nails that easily break.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcroerythrokeratoderma
Follow this link to review classifications for Acroerythrokeratoderma in Orphanet.

Professional guidelines


Carbonell Pradas M, Grimalt Santacana R
Actas Dermosifiliogr 2022 Mar;113(3):254-260. Epub 2021 Jun 12 doi: 10.1016/j.ad.2021.05.016. PMID: 34126071
Huang C, Yang Y, Huang X, Zhou Z
Biomed Res Int 2021;2021:8841994. Epub 2021 Jan 27 doi: 10.1155/2021/8841994. PMID: 33575348Free PMC Article
Thomas BR, O'Toole EA
Acta Derm Venereol 2020 Mar 25;100(7):adv00094. doi: 10.2340/00015555-3430. PMID: 32147745Free PMC Article

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