Mal De Maleda Case Study

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Title: The first reported case of Mal de Maleda in an Egyptian origin patient. Authors: Khalid M. Al-Husain, MD, Ahmed A. Al-Thubaiti, MD, Prof. Iqbal A. Bukhari, Dermatology Department, College of Medicine, Imam Abdulrahman Bin Faisal University (IAU) , Dammam, Kingdom of Saudi Arabia Correspondence: ibukhari@iau.edu.sa Abstract: Mal 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 the dorsal aspects of the hands and feet in a glove and stocking pattern. It is also associated with hyperhidrosis, nail changes, subungual hyperkeratosis…show more content…
.The condition started at the age of 3 months when he developed palmoplantar erythematous erosive lesions with fluctuating course. There was no history of blisters or fissures. That time he was seen by several dermatologists and treated with oral antihistamine and topical steroid. According to the parent the condition worsened and became palmoplantar macerated hyperkeratotic lesions. Past medical history was irrelevant. The mother and father are first degree relatives with no similar condition reported in the family. The patient had normal growth milestones and doing well in school. On examination there was bilateral symmetrical palmoplantar waxy hyperkeratotic lesions with irregular borders extending to the dorsum of both hands and feet with erythematous background. There was hyperhidrosis but not malodorous. There were no nail changes or contractures or autoamputation of the digits. The face showed scaly slightly erythematous patches on the cheeks and nose. The lips were slightly dry but no perioral erythema. His gingiva was swollen but normal teeth and tongue. Hair was normal. Besides, there was erythematous hyperkeratotic patches on the extensor surfaces of the arms, legs , thighs and back but the knees and elbows were free of lesions. There was no hearing loss or eye abnormalities. Systemic examination showed…show more content…
The disease has been reported in many countries including Croatia, Algeria, Chile, China, Germany, India, Indonesia, Italy, Japan, Korea, Laos, Libya, The Netherlands, Pakistan, Saudi Arabia, Scotland, Sweden, Tunisia, Turkey, and the United Arab Emirates [5–19]. Clinically, the patient usually present with bilateral diffuse PPK in a stocking and glove pattern with sharp margins and a yellow tone. Usually, symptoms begin soon after birth as a palmoplantar erythema and progress to the characteristic thickened, exfoliative hyperkeratosis that has a transgrediens nature. [21, 22]. this can be complicated by hyperhidrosis, and microbial infection leading to malodorous and painful lesions [23]. Nail anomalies are the most common associated feature and include subungal hyperkeratosis, Beau’s lines, onchyolysis, hyperconvexity, and koilonychias [22, 23]. Patients may also have disorder of the digits, including fifth-finger dysplasia, tapering of the digits, contracture, knuckle pads, and pseudoainhum [22, 24, 25]. other associated features include psoriasiform lesions on the knees and elbows [5]. perioral erythema,lower-lip angular cheilitis, arched palate [5, 24] and rarely malignant melanoma can occur within the areas of hyperkeratosis.

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