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://dx.doi.org/10.7759/cureus.18061 | DOI Listing |
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 PDFCureus
May 2024
Department of Dermatology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
J Neurosci
July 2024
Department of Neurosurgery, Neurosurgery Pain Research Institute, Johns Hopkins School of Medicine, Baltimore, Maryland 21205
Int J Dermatol
September 2024
Department of Dermatovenerology, Pamukkale University Faculty of Medicine, Denizli, Turkey.
JAMA Dermatol
April 2024
Department of Dermatology, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan.
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