Mal de Meleda: Genetics Home Reference

Mal de Meleda: Genetics Home Reference
Intense hyperkeratosis producing a yellowish color interwoven with an erythematous border in the palmar region of a patient.

Mal de Meleda is a rare autosomal recessive skin disease characterized by transgressive palmoplantar hyperkeratosis. Features may also include lichenoid lesions, brachydactyly and nail dystrophy. The disease has a high morbidity and significantly impairs quality of life.

Here we describe the cases of two patients from the same family with typical clinical pictures and a history of consanguinity between the parents. The cases illustrate a rare genodermatosis that should be part of the differential diagnosis of palmoplantar keratodermas.

Case Reports

Mal de Meleda: Genetics Home Reference

Case 1: A white, female, 62-year-old patient born of healthy first cousins who was born and still living in Mogi das Cruzes presented with a complaint of desquamation and thickening of the skin on the palms of her hands and soles of her feet since birth. The clinical picture had worsened, with involvement of the dorsa of the feet and hands. She complained of intense sweating and fetid, painful lesions but denied any comorbidities or other systemic alterations.

She reported that her parents had had 6 children, 3 of whom were healthy and 3 of whom suffered from the disease (her, the patient in case 2 and another sibling, who had died of another cause). Dermatological examination revealed intense transgressive whitish-yellow palmoplantar hyperkeratosis with maceration, and erythema extending to the dorsa of the feet and hands. Hyperkeratosis of the nails on all the fingers and toes was also present (Figures 1 and 2). Laboratory tests were normal. A clinical diagnosis of Mal de Meleda was made. However, the patient refused any specific treatment (systemic retinoids) and chose treatment with emollients.

Case 2: BDC, 72 years old, female, sister of patient 1, born and living in Mogi das Cruzes presented with a complaint of desquamation on her feet and hands since birth and the development of painful fissures. She also complained of excessive sweating and lesions with a fetid odor but denied any lesions on other parts of her body.

Mal de Meleda: Genetics Home Reference

She has diabetes mellitus (which is being treated with glibenclamide 5 mg 3 x/day) and hypothyroidism (which is being treated with Puran T4 50 µg/day). On examination the patient was found to have transgressive palmoplantar hyperkeratosis with a yellowish paraffin-like color. Foulsmelling interdigital fissures and maceration were present. All the nails were affected by dystrophy. Laboratory tests were normal. Mal de Meleda was diagnosed and treatment with acitretin and emollients was started.

Mal de Meleda: Genetics Home Reference

* Arredondo J, Chernyavsky AI, Webber RJ, Grando SA. Biological effects of SLURP-1 on human keratinocytes. J Invest Dermatol. 2005 Dec;125(6):1236-41.

* Chimienti F, Hogg RC, Plantard L, Lehmann C, Brakch N, Fischer J, Huber M, Bertrand D, Hohl D. Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda. Hum Mol Genet. 2003 Nov 15;12(22):3017-24. Epub 2003 Sep 23.

* Eckl KM, Stevens HP, Lestringant GG, Westenberger-Treumann M, Traupe H, Hinz B, Frossard PM, Stadler R, Leigh IM, Nürnberg P, Reis A, Hennies HC. Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. Hum Genet. 2003 Jan;112(1):50-6. Epub 2002 Oct 19.

* Favre B, Plantard L, Aeschbach L, Brakch N, Christen-Zaech S, de Viragh PA, Sergeant A, Huber M, Hohl D. SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda. J Invest Dermatol. 2007 Feb;127(2):301-8. Epub 2006 Sep 28.

* Fischer J, Bouadjar B, Heilig R, Huber M, Lefèvre C, Jobard F, Macari F, Bakija-Konsuo A, Ait-Belkacem F, Weissenbach J, Lathrop M, Hohl D, Prud'homme JF. Mutations in the gene encoding SLURP-1 in Mal de Meleda. Hum Mol Genet. 2001 Apr 1;10(8):875-80.

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