Genetically proven Mal de Meleda complicated by Bowen's disease of the sole

Tourlaki, Athanasia; Bentivogli, Margherita; Boneschi, Vinicio; Brambilla, Lucia

doi:10.1684/ejd.2011.1278

Cited by 8 publications

(6 citation statements)

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“…Squamous cell carcinomas have been associated with the PPK in patients with Olmsted syndrome and Huriez syndrome . To the best of our knowledge, this is the third case of squamous cell carcinoma to be reported in patients with MDM as previously described were a case of Bowen's disease (SCC in situ ) and one case of ungual cutaneous SCC . Several cases of melanoma arising in the hyperkeratotic lesions of MDM, patients have been previously reported (summarized in Table ) .…”

Section: Discussionmentioning

confidence: 58%

SLURP‐1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene

et al. 2017

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Section: Discussionmentioning

confidence: 58%

SLURP‐1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene

et al. 2017

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“…Limited number of MDM cases was reported in several parts of the world [3, 4, 9–11]. The major reported cases of MDM in North Africa are of Tunisian descent with a total of 49 patients including the patients reported herein [3, 4, 12].…”

Section: Resultsmentioning

confidence: 99%

“…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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“…Es gibt allerdings gelegentliche Berichte über einen Zusammenhang zwischen anderen PPK-Syndromen Clinical Letter mit SCC oder verrukösem Karzinom, einschließlich Mal de Meleda (OMIM 248300)[5][6][7][8].Ein 69-jähriger Mann stellte sich vor, bei dem 6 Monate zuvor Veränderungen am Nagel des linken Daumens aufgetreten waren. Dies wurde begleitet von einer PPK, die bereits in der Kindheit ausgebrochen war.…”

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