Palmoplantar keratoderma – Mal de Meleda syndrome

Rajashekhar, Nadiga; Moideen, Rafeeq

doi:10.1111/j.1365-4362.1997.tb04135.x

Cited by 6 publications

(3 citation statements)

References 2 publications

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“…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%

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%

Mal de Meleda: A Focused Review

Pérez

Khachemoune

2015

Am J Clin Dermatol

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“…Other associated features such as psoriasiform lesions on the knees and elbows, perioral erythema, angular cheilitis, arched palate and rarely malignant melanoma within the areas of hyperkeratosis may be seen [3][4][5][6][7]. Histologically, there is hyperkeratosis, parakeratosis, orthokeratosis, hypergranulosis and acanthosis without evidence of epidermolysis [11][12][13][14]. Mal de Meleda can be diagnosed based on clinical features, family history and genetic analysis.…”

Section: Discussionmentioning

confidence: 99%

The first reported case of a variant of Mal de Maleda of the Gamborg-Nielsen type in an Egyptian origin patient

Al-Husain¹,

Al-Thubaiti²,

Alzahrani³

et al. 2018

Our Dermatol Online

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How to cite this article: Al-Husain KM, Al-Thubaiti AA, Alzahrani FM, Bukhari IA, El-Shawarby M. The fi rst reported case of a variant of Mal de Maleda of the Gamborg-Nielsen type in an Egyptian origin patient. ABSTRACTMal de Meleda is a rare genodermatosis with an autosomal recessive inheritance. Mutations in the SLURP1 gene are the cause of this disease. Clinically, it is characterized by progressive palmoplantar hyperkeratosis exhibiting a transgradiens pattern extending to the dorsal aspects of the hands and feet in a glove and stocking pattern. It is also associated with hyperhidrosis, nail changes, subungual hyperkeratosis and perioral erythema. Here we report the first case of Gamborg-Nielsen variant of Mal de Meleda disorder in a patient of an Egyptian origin.

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“…1,11 Other diffuse PPK but which are inherited in an autosomal recessive pattern include the Mal de Meleda and the Nagashimi-type PPK. 1,12 Molecular knowledge of palmoplantar epidermis has identified keratin 9 (K9) Keratin1 (K1) and Keratin 16 (K16) in the supra-basal layers of epidermis. 13 It thus becomes obvious why mutations in the genes encoding these proteins are associated with the skin disorders of PPK.…”

Section: Epidermolytic Ppk (Eppk)mentioning

confidence: 99%

Case report: Autosomal dominant non-epidermolytic palmoplantar hyperkeratosis in a Nigerian girl

Ea¹,

Do²

2013

Nig. J. Paed.

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Palmoplantar keratoderma (PPK) is a hereditary cutaneous disorder characterized by a marked hyperkeratosis of the palms and soles. A variant that was inherited in an autosomal dominant form was highlighted in a 20-month-old girl-child. The proband was brought to the Paediatric Outpatient Department by her mother because of an unusual but a familiar thickening of the palms and soles, having married to the proband's father who is having a similarly thickened palms and soles. The disorder was noticed in the proband, two weeks after birth, initially with reddening of the palms and soles, followed by blistering and eventual thickening of the palms and soles, occurring over one-and-half months. There were no associated systemic symptoms and the hair, the teeth and nails were not affected. PPK, although a common cutaneous disorder, has been reported sparingly in Nigeria. The index case was diagnosed histologically to be the nonepidermolytic type and a high dose of vitamin A and salycylic acid ointment were administered with a little improvement in the keratoses.

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Palmoplantar keratoderma – Mal de Meleda syndrome

Cited by 6 publications

References 2 publications

Mal de Meleda: A Focused Review

Mal de Meleda: A Focused Review

The first reported case of a variant of Mal de Maleda of the Gamborg-Nielsen type in an Egyptian origin patient

Case report: Autosomal dominant non-epidermolytic palmoplantar hyperkeratosis in a Nigerian girl

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