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History and prospects of Nagashima-type palmoplantar keratosis, the most common palmoplantar keratoderma in east Asian populations.
J Dermatol
January 2025
Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
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.
View Article and Find Full Text PDFTransgradient Variant of Mal De Meleda Presenting As Palmoplantar Keratoderma: A Case Report.
Cureus
May 2024
Department of Dermatology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
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.
Pain Hypersensitivity in SLURP1 and SLURP2 Knock-out Mouse Models of Hereditary Palmoplantar Keratoderma.
J Neurosci
July 2024
Department of Neurosurgery, Neurosurgery Pain Research Institute, Johns Hopkins School of Medicine, Baltimore, Maryland 21205
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.
A novel mutation in SLURP1 in patients with Mal de Meleda from Turkey.
Int J Dermatol
September 2024
Department of Dermatovenerology, Pamukkale University Faculty of Medicine, Denizli, Turkey.
Mal de Meleda.
JAMA Dermatol
April 2024
Department of Dermatology, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan.
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