Mal meleda

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Academician Franjo Kogoj graduated medicine in 1920 in Prague, where he then pursued training in dermatovenerology. During later years, he also visited other dermatology clinics in Europe, where he collaborated with renowned dermatologists of the time, such as in Breslau (present day Wroclaw in Poland) with Josef Jadassohn and in Strasbourg with Lucien-Marie Pautrier. He was also active in the famous Saint-Louis hospital in Paris. Academician Kogoj's scientific interests were especially focused on allergies, exanthemas, skin tuberculosis, and keratodermas...

Mal de Meleda (MDM) is a rare autosomal palmoplantar keratoderma (PPK) skin disorder (estimated incidence of 1 per 100,000 people) commonly associated with consanguinity and early childhood onset. MDM is characterized by bilateral diffusion of PPK plaques with delimited yellowish lesions that transgredien to the dorsum of the hands and feet. Additional features include nail dystrophy, lichenoid lesions, hyperhidrotic maceration, involvement of the knees and elbows, malodor, fungal superinfections, and digital constrictions...

BACKGROUND: Mal de Meleda is an autosomal recessive palmoplantar keratoderma, with SLURP1 identified as the pathogenic gene responsible. Although over 20 mutations in SLURP1 have been reported, only the mutation c.256G > A (p.G87R) has been detected in Chinese patients. Here, we report a novel heterozygous SLURP1 mutation in a Chinese family. METHODS: We assessed the clinical manifestations of two Chinese patients with Mal de Meleda and collected specimens from the patients and other family members for whole-exome and Sanger sequencing...

[This corrects the article DOI: 10.3389/fmed.2022.821301.].

Mal de Meleda is a rare variety of palmoplantar keratoderma with an autosomal recessive mode of inheritance and an estimated prevalence of 1 in 100,000 in general population. The disease is associated with consanguinity, starts in infancy, and characterized by progressive palmoplantar keratoderma spreading to dorsum of hands and feet. Involvement of extensors of knee and elbow were well described in literature. We report a rare case of Mal de Meleda with flexural involvement, which has not been reported in literature...

Mal de Meleda (MDM) is a rare autosomal recessive type of palmoplantar keratoderma that is characterized by transgradient keratoderma with scleroatrophy, pseudoainhum around the fingers, and perioral erythema. Its features may also include lichenoid lesions, brachydactyly, and nail dystrophy. The disease has high morbidity and significantly impairs quality of life. Here, we describe two sisters with typical clinical presentations of MDM and a history of consanguinity between the parents.

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Background: Mal de Meleda (MDM, OMIM 248300) is an autosomal recessive disease characterized by symmetrical and progressive palmoplantar hyperkeratosis soon after birth. Mutations in SLURP1 gene could lead to MDM. Clinically, MDM is easily misdiagnosed as other types of keratoderma due to phenotypic variation and overlap. Objective and Methods: A patient with suspected MDM was confirmed by the combination of next-generation sequencing and Exomiser, and the patient was attempted with the treatment of Ixekizumab and Adalimumab...

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Mal de Meleda (MDM) is a rare sub-type of palmoplantar keratoderma (PPK) disease. The primary symptoms of PPK are scleroatrophy, transient keratoderma, scleroatrophic erythema, pseudoainhum around the digits, and perioral erythema. MDM is a pathology with a difficult clinical course. This case study presents two cases of MDM in siblings born out of second-degree consanguinity. The presenting complaint was the peeling of the palmar skin since birth. Both patients were treated with acitretin orally (dose: 10 mg) for three months and tretinoin (topical) for two months...

Mal de Meleda is an autosomal recessive palmoplantar keratoderma associated with mutations in a gene encoding SLURP-1. SLURP-1 controls growth, differentiation, and apoptosis of keratinocytes by interaction with α7-type nicotinic acetylcholine receptors. SLURP-1 has a three-finger structure with a β-structural core (head) and three prolonged loops (fingers). To determine the role of SLURP-1 mutations, we produced 22 mutant variants of the protein, including those involved in Mal de Meleda pathogenesis. All mutants except R71H, R71P, T52A, R96P, and L98P were produced in the folded form...

Mal de Meleda (MDM) is a rare, autosomal recessive form of palmoplantar keratoderma due to mutations in the gene, encoding for secreted lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein 1 (SLURP1). We report a four-year-old Taiwanese MDM female case whose biopsy specimen of hyperkeratotic lesions showed abnormal keratinization and cutaneous inflammation with characteristic transmission electron microscopic (TEM) findings and immunostaining results. The patient presented with pruritic and severely hyperkeratotic plaques on the bilateral palms and soles whichwere fringed with erythematous scaly areas...

Molecular diagnosis of rare inherited palmoplantar keratoderma (PPK) is still challenging. We investigated at the clinical and genetic level a consanguineous Tunisian family presenting an autosomal dominant atypical form of transgrediens and progrediens PPK to better characterize this ultrarare disease and to identify its molecular etiology. Whole-exome sequencing (WES), filtering strategies, and bioinformatics analysis have been achieved. Clinical investigation and follow up over 13 years of this Tunisian family with three siblings formerly diagnosed as an autosomal recessive form of Mal de Melela-like conducted us to reconsider its initial phenotype...

The SLURP1 (secreted LY6/urokinase type plasminogen activator receptor related protein-1) belongs to the gene family of urokinase, a type of plasminogen activator receptor (uPAR). Mutations in the SLURP1 have been reported to cause serious genetic problems of skin, Mal De Meleda, and malignancies. With the advancement of computational tools, it became possible to predict the potential impact of gene variants on the structure and function of protein. Therefore, in present study, we aimed to perform in-silico analyses of the disease causing SLURP1 mutations using online tools...

INTRODUCTION: Development of acral malignant melanoma in Mal de Meleda is highly unusual. As far as we could ascertain, to date, only 10 previous cases have been published. Herein, we report a new case. OBSERVATION: A 64-year-old Algerian man was followed for familial Mal de Meleda. The diagnosis was based on clinical presentation as he had a non-syndromic hereditary foul-smelling and yellowish palmoplantar keratoderma transgrediens. After the failure of acitretin, which had not prevented retractile and mutilating progression of the palmoplantar keratoderma, he had undergone surgery with graft excision of both palms...

BACKGROUND: Inherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous and phenotypically diverse group of genodermatoses characterized by hyperkeratosis of the palms and soles. More than 20 genes have been reported to be associated with PPKs including desmoglein 1 (DSG1) a key molecular component for epidermal adhesion and differentiation. Mal de Meleda (MDM) is a rare inherited autosomal recessive genodermatosis characterized by transgrediens PPK, associated with mutations in the secreted LY6/PLAUR domain containing 1 (SLURP1) gene...

Mal de Meleda, also known as keratoderma palmoplantaris transgrediens, is a rare type of autosomal recessive palmoplantar keratoderma. A 19-year-old male presented with a congenital yellowish discoloration and thickening of both palms and soles of the feet. His family history revealed that there was no consanguinity between the mother and the father and that the patient had three healthy brothers. The second- and third-degree relatives, five females and one male, also exhibited similar skin findings. From the isolated DNA samples, the extrinsic regions of the SLURP1 gene were screened using the sequence analysis and the Sanger sequencing was performed with the 3130 Sequence Analyzer...

Mal de Meleda is an hereditary palmoplantar keratoderma named for the Mljet Island in Croatia. The lives of those affected by this disease represent a complex situation that encompasses members of a vulnerable group. They require enlightenment and should be approached with awareness, taking into account their overall psychophysical status and the environment of each patient. Those afflicted with Mal de Meleda not only have to deal with a difficult life due to their affliction, but they also must cope with the hardships of socialization while trying to realize a normal life within their island community...

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