Meleda disease

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Meleda disease Classification and external resources
OMIM	248300

Meleda disease (MDM), also called mal de meleda, keratosis palmoplantaris or transgradiens of siemens,^[1] is an extremely rare, congenital skin disorder in which dry, thick patches of skin develop on the soles of the hands and feet, a condition known as palmoplantar hyperkeratosis.

[edit] Genetic prevalence

MDM is most common on the Dalmatian island of Meleda, thought to be because of a founder affect. It is of autosomal recessive inheritance. It may be caused by a mutation on the SLURP1 gene, located on chromosome 8.

[edit] References

v • d • e Congenital malformations and deformations of integument (Q80-Q84, 757) Congenital ichthyosis Epidermolytic hyperkeratosis - Harlequin type ichthyosis - Ichthyosis lamellaris - Ichthyosis vulgaris - Netherton syndrome - X-linked ichthyosis - Zunich-Kaye syndrome Epidermolysis bullosa Epidermolysis bullosa simplex - Epidermolysis bullosa dystrophica Other skin disease Hereditary lymphedema - Mastocytosis - Meleda disease - Naegeli syndrome - Urticaria pigmentosa - Incontinentia pigmenti - Ectodermal dysplasia - EEM syndrome - Hay-Wells syndrome - Kindler syndrome - Port-wine stain - Cutis laxa - Darier's disease - Pseudoxanthoma elasticum - Keratosis pilaris DNA repair-deficiency disorder: Bloom syndrome - Rothmund-Thomson syndrome - Xeroderma pigmentosum Nail disease Leukonychia - Pachyonychia congenita Malformations of breast Amastia - Accessory breast - Athelia - Supernumerary nipple - Micromastia Hair disease Monilethrix - Sabinas brittle hair syndrome see also non-congenital (L, 680-709)