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. The prognosis was good after three months of treatment.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8523366PMC
http://dx.doi.org/10.7759/cureus.18061DOI Listing

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Nagashima-type palmoplantar keratosis (NPPK) has been shown to represent a form of autosomal recessive palmoplantar keratosis due to biallelic pathological variants of SERPINB7, which encodes a serine protease inhibitor expressed in the epidermis. Approximately 10 years have elapsed since NPPK was demonstrated to be an independent genetic disease, and the most prevalent palmoplantar keratoderma (PPK) in East Asian countries due to a high prevalence of founder mutations in SERPINB7. Since then, it has become evident that biallelic pathological variants of SERPINA12, which encodes a serine protease inhibitor expressed in the epidermis, can also manifest symptoms analogous to those of NPPK.

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Article Synopsis
  • Mal De Meleda is a rare genetic disorder marked by thick, yellowish skin on the palms and soles, along with itching and cracking.
  • An 18-year-old male was diagnosed with the transgradiens variant of the disorder after clinical and histopathological evaluations.
  • Treatment using oral acitretin and topical moisturizers led to significant skin improvement, emphasizing the need for awareness of rare skin conditions and a team-based approach for care.
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Article Synopsis
  • SLURP1 and SLURP2 are proteins linked to a skin condition called Mal de Meleda (MdM), which causes painful thickening of skin on the palms and soles due to genetic mutations.
  • Mouse models lacking SLURP1 or SLURP2 exhibit similar skin thickening and show increased pain sensitivity to touch and temperature.
  • The study found that these mice have changes in skin immune response and nerve activity, suggesting they could help in developing treatments for pain related to this skin condition.
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Mal de Meleda.

JAMA Dermatol

April 2024

Department of Dermatology, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan.

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