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Correspondence |

A Novel Homozygous Missense Mutation in SLURP1 Causing Mal de Meleda With an Atypical Phenotype

Robert Gruber, MD; Hans C. Hennies, PhD; Nikolaus Romani, PhD; Matthias Schmuth, MD
Arch Dermatol. 2011;147(6):748-750. doi:10.1001/archdermatol.2011.138.
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Mal de Meleda (MDM) is a rare autosomal recessive form of keratoderma characterized by sharply demarcated palmoplantar erythema and hyperkeratoses. It usually manifests within the first 2 years of life and takes a slowly progressive course with transgression of the hyperkeratoses to the dorsal aspects of the hands and feet. Associated findings include perioral erythema, hyperkeratotic plaques over the joints, nail abnormalities, hyperhidrosis with malodorous maceration, brachydactyly, and pseudoainhum.13 Mal de Meleda is caused by mutations in SLURP1 (7 different mutations have been detected), encoding the secreted mammalian Ly6/urokinase plasminogen receptor–related protein 1 (SLURP-1), which shows a phylogenetic relationship to snake neurotoxins exhibiting the characteristic 3-finger structure.4 In human keratinocytes, SLURP-1 is an endogenous ligand of the alpha-7-nicotinic acetylcholine receptor and acts as a neuromodulator, likely impacting on epidermal homeostasis and regulating tumor necrosis factor–mediated inflammatory cascades.3

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Figure 1.

Clinical and histologic mal de Meleda features. A, Diffuse palmar hyperkeratoses and hyperhidrosis. B, Hyperkeratoses of erythematous light gray color with sharp proximal demarcation and transgression to the dorsal aspects of the hands and fingers. C, Hematoxylin-eosin–stained skin sections showing hyperparakeratosis, acanthosis, hypergranulosis, and discrete perivascular lymphocytic infiltrates (original magnification ×100). D, Improved keratoderma (decreased hyperkeratosis and less sharp demarcation) after 6 months of oral acitretin therapy, 20 mg/d.

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Figure 2.

SLURP1 mutation analysis, demonstrating a novel homozygous missense mutation p.Pro82Ser (c.244C→T) in exon 3 of the gene, expected to result in altered protein structure.

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