Mal de Meleda

11/01/2014 - "Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda."
06/01/2014 - "Mutations in SLURP1 cause mal de Meleda, a rare palmoplantar keratoderma (PPK). "
01/01/2013 - "Mal de Meleda (MDM) is a rare, autosomal recessive form of palmoplantar keratoderma. "
07/01/2011 - "Mal de Meleda is a rare transgressive palmoplantar keratoderma with an estimated prevalence of 1 in 100,000 individuals. "
01/01/2010 - "This, however, has not been the only disease named after a Croatian toponym; in 1826, Luca Stulli of Dubrovnik was the first to describe the 'mal de Meleda', nowadays recognized as a form of hereditary palmoplantar keratoderma. "

09/01/2015 - "Mal de meleda (MdM), a rare autosomal recessive genodermatosis is characterized by erythema and hyperkeratosis of the palms and soles with a sharp demarcation and that progress with age (progrediens) and extend to the dorsal aspects of the hands and feet (transgrediens). "
04/01/2001 - "Mal de Meleda (MDM) is a rare autosomal recessive skin disorder, characterized by transgressive palmoplantar keratoderma (PPK), keratotic skin lesions, perioral erythema, brachydactyly and nail abnormalities. "
11/01/1998 - "Meleda disease (mal de Meleda) MIM *248300 is an autosomal recessive disorder, clinically characterised by transgressive palmoplantar keratoderma, hyperhidrosis and perioral erythema. "
09/01/2012 - "Mal de Meleda is a rare autosomal recessive transgradient palmoplantar keratoderma characterized by transgradient keratoderma with associated scleroatrophy, nail changes, pseudoainhum around digits and perioral erythema, without a tendency for spontaneous resolution. "

03/01/2008 - "Conclusion The results of the present genetic study suggest that Nagashima-type keratosis is a novel entity of PPK and is distinct from mal de Meleda."
04/01/2009 - "[Surgical treatment of keratosis palmaris in Mal de Meleda]."
10/01/2000 - "Mal de Meleda (MIM 248300), also referred to as keratosis palmoplantaris transgrediens of Siemens, is a rare autosomal recessive skin disorder with a prevalence in the general population of 1 in 100,000. "
01/01/2015 - "SLURP1 is the causal gene for Mal de Meleda (MDM), an autosomal recessive skin disorder characterized by diffuse palmoplantar keratoderma and transgressive keratosis. "
01/01/2003 - "Mal de Meleda (MDM) or keratosis palmoplantaris transgrediens of Siemens is an autosomal recessive skin disorder characterized by diffuse palmoplantar keratoderma (PPK) and transgressive keratosis with an onset in early infancy. "

01/01/2002 - "Prevalence of dermatomycoses in Mal de Meleda patients: a field study."

01/01/2010 - "Our cases for comparison included 4 cases with Mal de Meleda PPK associated with autosomal-recessive SLURP1 mutations, one case with pachyonychia congenita type II PPK associated with an autosomal-dominant KRT17 mutation, and one case with focal PPK associated with an autosomal-dominant KRT16 mutation. "
01/01/2013 - "We utilized this tool in pachyonychia congenita (PC) patients, who typically present with plantar hyperkeratosis and often severely debilitating pain, compared to patients with epidermolytic palmoplantar keratoderma (EPPK) and mal de Meleda (MDM). "
01/01/2015 - "OS has to be differentiated from other severe forms of PPK including Vohwinkel, Clouston, Papillon-Lefèvre or Haim-Munk syndromes, Mal de Meleda, pachyonychia congenita, Tyrosinemia type II and acrodermatitis enteropathica. "
04/01/1984 - "The differential diagnosis includes hidrotic ectodermal dysplasia of the Clouston type, pachyonychia congenita, acrodermatitis enteropathica, keratoma hereditarium mutilans of Vohwinkel , mal de Meleda , and other forms of palmoplantar keratodermas . "