Acroerythrokeratoderma(MDM)

MedGen UID:: 7522
•Concept ID:: C0025221
•: 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: 141025 •Concept ID: C0441748 • 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). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	SLURP1 (8q24.3)

Monarch Initiative:	MONDO:0009552
OMIM®:	248300
Orphanet:	ORPHA87503

Definition

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

Brachydactyly

MedGen UID:: 67454
•Concept ID:: C0221357
•: 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.

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Congenital symmetrical palmoplantar keratosis

MedGen UID:: 344502
•Concept ID:: C1855459
•: Congenital Abnormality

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Hyperhidrosis

MedGen UID:: 5690
•Concept ID:: C0020458
•: Finding

Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.

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Ichthyosis

MedGen UID:: 7002
•Concept ID:: C0020757
•: 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.

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Perioral erythema