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12 Cards in this Set
- Front
- Back
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Clinical Mal de Meleda
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Synonym
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Keratoderma palmoplantaris transgrediens
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Inheritance
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Autosomal recessive; secreted Ly 6/uPar related protein 1 (SLURP1) gene on 8qter
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Prenatal
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None
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Incidence
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Originally described in an inbred population on the island of Meleda in the Adriatic
Sea; most cases originate from this region; M=F |
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Age at Presentation
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After birth to first few months of life
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Pathogenesis
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SLURP1 gene mutation encoding for proteins important in cell signaling and adhesion
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Clinical
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Skin
Infancy Palmoplantar erythema, scaling, thickening After Infancy Glove and stocking palmoplantar keratoderma with sharp demarcation, transgrediens (extension to dorsal surface), secondary painful fissures, hyperhidrosis, maceration, fetid odor; ± constriction bands at distal phalanges Hyperkeratotic plaques over elbows and knees Nails Subungual hyperkeratosis; koilonychia |
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D/Dx
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Other forms of PPK
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Lab
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None
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Management
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Referral to dermatologist keratolytics, oral retinoids
Referral to surgeon surgical release of constriction bands Examine family members |
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Prognosis
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Persists throughout life; normal life span
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