scholarly journals A Case of Mal De Meleda: The Rare Presentation of Palmoplantar Keratoderma Disease

Cureus ◽  
2021 ◽  
Author(s):  
Vamsi Kalyan ◽  
Tarun K Suvvari ◽  
Venkata Dinesh Kumar Kandula ◽  
Aparajeya Shanker ◽  
Lolita Matiashova
Keyword(s):  
Palmoplantar Keratoderma ◽  
Rare Presentation ◽  
Mal De Meleda

Mal de Meleda-like Palmoplantar Keratoderma

1991 ◽  
Vol 18 (1) ◽  
pp. 43-46 ◽  
Author(s):  
Tomoe Iio ◽  
Satoshi Shiraishi ◽  
Koji Sayama ◽  
Yoshiharu Miki
Keyword(s):  
Palmoplantar Keratoderma ◽  
Mal De Meleda

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

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Mbarka Bchetnia ◽  
Nadia Laroussi ◽  
Monia Youssef ◽  
Cherine Charfeddine ◽  
Ahlem Sabrine Ben Brick ◽  
...  
Keyword(s):  
Founder Effect ◽  
Mutational Analysis ◽  
Phenotypic Variability ◽  
Genetic Defect ◽  
Molecular Defect ◽  
Mediterranean Population ◽  
Palmoplantar Keratoderma ◽  
The Mediterranean ◽  
Hands And Feet ◽  
Mal De Meleda

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 inSLURP-1gene encoding for secreted mammalian Ly-6/uPAR-related protein 1 (SLURP-1). We performed mutational analysis by direct sequencing ofSLURP-1gene 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 theSLURP-1gene 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 inSLURP1in the Mediterranean population.

scholarly journals Palmoplantar Keratoderma of the Gamborg-Nielsen Type is Caused by Mutations in the SLURP1 Gene and Represents a Variant of Mal de Meleda

2014 ◽  
Vol 94 (6) ◽  
pp. 707-710 ◽  
Author(s):  
L Zhao ◽  
A Vahlquist ◽  
M Virtanen ◽  
L Wennerstrand ◽  
L Lind ◽  
...  
Keyword(s):  
Palmoplantar Keratoderma ◽  
Mal De Meleda

Malignant melanoma developing in an area of hereditary palmoplantar keratoderma (Mal De Meleda)

2003 ◽  
Vol 84 (4) ◽  
pp. 229-233 ◽  
Author(s):  
Nicola Mozzillo ◽  
Carmine A. Nunziata ◽  
Corrado Caracò ◽  
Flavio Fazioli ◽  
Gerardo Botti
Keyword(s):  
Malignant Melanoma ◽  
Palmoplantar Keratoderma ◽  
Mal De Meleda

Palmoplantar keratoderma - Mal de Meleda syndrome

2008 ◽  
Vol 36 (11) ◽  
pp. 854-856 ◽  
Author(s):  
Nadiga Rajashekhar ◽  
Rafeeq Moideen
Keyword(s):  
Palmoplantar Keratoderma ◽  
Mal De Meleda

Abstract #842 Partial Hypopituitarism Following Miscarriage- A Rare Presentation

2018 ◽  
Vol 24 ◽  
pp. 195
Author(s):  
Monisha Priyadarshini Kumar ◽  
Irtsam Shahid ◽  
Daniela Ciltea
Keyword(s):  
Rare Presentation

Abstract #255: Kenny-Caffey Syndrome: A Rare Presentation of a Rare Disease

2006 ◽  
Vol 12 ◽  
pp. 93-94
Author(s):  
Khurshid Ahmad Khan ◽  
Stephen A. Brietzke
Keyword(s):  
Rare Disease ◽  
Rare Presentation
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