A Sporadic Case of Mal de Meleda Caused by Gene Mutation in SLURP-1 in Korea

Oh, Young Jae; Lee, Haeun; Ko, Joo Yeon; Ro, Young Suck; Yu, Hee Joon

doi:10.5021/ad.2011.23.3.396

Cited by 13 publications

(20 citation statements)

References 7 publications

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“…Some samples exhibit parakeratosis, while others show orthokeratosis [29]. There is also variation with respect to findings in the stratum granulosum, as both hypergranulosis and normogranulosis have been recorded [6,30,31]. Further, there is histologic involvement beyond the epidermis into the upper dermis with a perivascular lymphocytic dermal infiltrate [30][31][32].…”

Section: Histologymentioning

confidence: 97%

“…Subsequent to its initial description in 1826, the disease has been reported in at least 19 countries outside of Croatia including Algeria, Chile, China, Germany, India, Indonesia, Italy, Japan, Korea, Laos, Libya, The Netherlands, Pakistan, Saudi Arabia, Scotland, Sweden, Tunisia, Turkey, and the United Arab Emirates [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19].…”

Section: Historymentioning

confidence: 99%

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Mal de Meleda: A Focused Review

Pérez

Khachemoune

2015

Am J Clin Dermatol

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Mal de Meleda is a rare autosomal recessive palmoplantar keratoderma (PPK) disease with an estimated prevalence of 1:100,000. Clinically, the onset of the disease is typically soon after birth and features a transgrediens (plantar surface progressing to dorsal surface) and progrediens (worsening with age) pattern of hyperkeratosis of the palms and soles. The disease can feature other potentially disfiguring effects on the hands and feet that can severely impact function. Histologically, the lesions show hyperkeratosis and acanthosis without epidermolysis in the epidermis, accompanied by perivascular lymphocytic infiltrate in the dermis. Secreted LY6/urokinase-type plasminogen activator receptor (uPAR)-related protein-1 (SLURP-1) genetic mutations are implicated in Mal de Meleda. SLURP-1 is involved in mediation of inflammation as well as keratinocyte apoptosis regulation. Because the disease is so rare, there are no set guidelines for management, but the accepted approach tends to include oral acitretin plus topical keratolytic therapy. Genetic counseling should also be offered. This focused review highlights the clinical and histological features, differential diagnoses, genetic background, and the current thoughts on management of Mal de Meleda.

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Section: Histologymentioning

confidence: 97%

Section: Historymentioning

confidence: 99%

Mal de Meleda: A Focused Review

Pérez

Khachemoune

2015

Am J Clin Dermatol

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“…Met1Lys (Emirates Bedouin [15]); Ivs1 + 1G > A (Pakistani [16]); Trp15Arg (German [15], Scottish [3], and Dutch [17]); 82delT (Tunisian [3], Scottish [3], Algerian [3], Croatian [9], Kurdish [10], and Italian [11]); Ivs2 + 1G > A (Algerian [3]); Cys43Stop (Turkish [18]); Arg71Pro (Dutch [17]); Cys77Ala (Tunisian [4]); Pro82Ser (Turkish [19]); Gly86Arg (Palestinian [15], Turkish [15]), and Pakistani [16]), Korean [20], Taiwanese [21]); Arg96Stop (Croatian [9], Turkish [10], Korean [20], and Pakistani [16]); Lys98Pro (Turkish [22]); Cys99Tyr (Tunisian [12]); and Arg71His (patient was reported in a study from France, and the origin is not reported [23]).…”

Section: Figurementioning

confidence: 99%

Particular Mal de Meleda Phenotypes in Tunisia and Mutations Founder Effect in the Mediterranean Region

Bchetnia

Laroussi

Youssef

et al. 2013

BioMed Research International

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Mal de Meleda (MDM) is a rare, autosomal recessive form of palmoplantar keratoderma. It is characterized by erythema and hyperkeratosis of the palms and soles that progressively extend to the dorsal surface of the hands and feet. It is caused by mutations in SLURP-1 gene encoding for secreted mammalian Ly-6/uPAR-related protein 1 (SLURP-1). We performed mutational analysis by direct sequencing of SLURP-1 gene in order to identify the genetic defect in three unrelated families (families MDM-12, MDM-13, and MDM-14) variably affected with transgressive palmoplantar keratoderma. A spectrum of clinical presentations with variable features has been observed from the pronounced to the transparent hyperkeratosis. We identified the 82delT frame shift mutation in the SLURP-1 gene in both families MDM-12 and MDM-13 and the missense variation p.Cys99Tyr in family MDM-14. To date, the 82delT variation is the most frequent cause of MDM in the world which is in favour of a recurrent molecular defect. The p.Cys99Tyr variation is only described in Tunisian families making evidence of founder effect mutation of likely Tunisian origin. Our patients presented with very severe to relatively mild phenotypes, including multiple keratolytic pits observed for one patient in the hyperkeratotic area which was not previously reported. The phenotypic variability may reflect the influence of additional factors on disease characteristics. This report further expands the spectrum of clinical phenotypes associated with mutations in SLURP1 in the Mediterranean population.

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“…[6][7][8][9][10][11] Histologically, the lesions show hyperkeratosis and acanthosis without epidermolysis in the epidermis, accompanied by perivascular lymphocytic infiltrate in the dermis. 1,13 Cases of mal de Meleda with SLURP1 mutations have been reported in Algerian, 1 Bedouin, 14 Chinese, 15 Croatian, 1 Dutch, 16,17 German, 14,16,18 Indian, 19 Indonesian, 20 Italian, 21 Japanese, 6,22 Korean, 23 Kurdish, 2 Libyan, 24 Pakistani, 25 Palestinian, 14 Scottish, 18 Swedish, 26 Taiwanese 27,28 Tunisian, 18,21,29 and Turkish descents. 1,13 Cases of mal de Meleda with SLURP1 mutations have been reported in Algerian, 1 Bedouin, 14 Chinese, 15 Croatian, 1 Dutch, 16,17 German, 14,16,18 Indian, 19 Indonesian, 20 Italian, 21 Japanese, 6,22 Korean, 23 Kurdish, 2 Libyan, 24 Pakistani, 25 Palestinian...…”

Section: Introductionmentioning

confidence: 99%