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Systemic disease and the skin
Published in Rashmi Sarkar, Anupam Das, Sumit Sethi, Concise Dermatology, 2021
In hypothyroidism, the skin is pale, cold, scaly, wrinkled, and ivory-yellow colored. Palmoplantar keratoderma is frequently seen. Other findings are puffy oedema of hands, eyelids, face; punctate telangiectasias on arms and fingertips; delayed wound healing; xanthomatosis; cutis marmorata; and livedo reticularis. Nails are brittle and striated, with a very slow rate of growth. Hairs are coarse and scalpe. Loss of lateral eyebrows may be found (Hertoghe’s sign). Interesting associations include macroglossia, gingival swelling, and oral candidiasis.
Tylosis with Esophageal Cancer
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Palmoplantar keratoderma (hyperkeratosis palmaris et plantaris) is a focal thickening of the skin that often appears as areas of yellowish thickened plaques restricted to areas of weight bearing and/or friction on the palms and soles (e.g., the heels and forefeet). Occasionally, it may be confluent over the palms and soles. It usually emerges by 7–8 years of age but may occur as late as puberty. Other complications include discomfort, pruritus, deep and painful fissures, infection, follicular papules, and cutaneous horns [1].
Retinoids in Keratinization Disorders
Published in Ayse Serap Karadag, Berna Aksoy, Lawrence Charles Parish, Retinoids in Dermatology, 2019
In progressive palmoplantar keratoderma, extensive keratotic lesions with perilesional erythematous borders occur on palmoplantar surfaces and dorsal regions of the soles and palms, also on knees, elbows, and Achilles tendons, with marked hyperhidrosis. Keratolytics and topical and oral retinoids are recommended. The most commonly used retinoids are acitretin and etretinate in doses varying between 0.5 and 1 mg/kg/day. Phototherapy has shown good results (66,67).
Targeting mitochondria in dermatological therapy: beyond oxidative damage and skin aging
Published in Expert Opinion on Therapeutic Targets, 2022
Tongyu C Wikramanayake, Jérémy Chéret, Alec Sevilla, Mark Birch-Machin, Ralf Paus
Yet, few dermatoses are currently known to have congenital mtDNA mutations. These include palmoplantar keratoderma associated with progressive hearing loss [369] and Dupuytren’s disease [109,227], both with a maternally transmitted inheritance pattern. An A8344G mutation in mtDNA was also detected in patients with myoclonus epilepsy and ragged-red fibers syndrome (MERRF), who develop adipose skin tumors skin (lipomata) [371]. Moreover, mutations in Plec1, which encodes for the outer mitochondrial membrane protein plectin, result in abnormal mitochondria morphology and inhibition of complex I and IV, associated with the epidermal blistering phenotype of epidermolysis bullosa simplex [372]. In non-epidermolytic palmoplantar keratoderma (NEPPK) a A7445G mutation in mtDNA impairs complex IV subunit I of the respiratory chain [373].
Naxos disease – a narrative review
Published in Expert Review of Cardiovascular Therapy, 2020
Marianna Leopoulou, Gustav Mattsson, Jo Ann LeQuang, Joseph V Pergolizzi, Giustino Varrassi, Marita Wallhagen, Peter Magnusson
Naxos disease, albeit rare, poses an important clinical challenge. Its phenotype can sometimes make it easy to detect; however, its ideal clinical management is still far from elucidated. The phenotype consists of palmoplantar keratoderma, woolly hair, and cardiac involvement. Cardiac involvement is accompanied by a risk of SCD and might progress to ARVC. Although cardiomyopathy in Naxos disease is classified in the spectrum of arrhythmogenic cardiomyopathy, there are very few studies, recommendations, or guidelines specific to Naxos disease and guidelines for ARVC should be used for clinical guidance. Cellular and molecular engineering may offer therapeutic potentials in the future. Naxos disease registries could elucidate the unique aspects and challenges of the disease.
Emerging drugs for the treatment of epidermolysis bullosa
Published in Expert Opinion on Emerging Drugs, 2020
Matthias Titeux, Mathilde Bonnet des Claustres, Araksya Izmiryan, Helene Ragot, Alain Hovnanian
All forms of EBS manifest with blistering of the skin following exposure to mechanical friction or trauma. The generalized severe forms often develop painful palmoplantar keratoderma and nail dystrophy. Erosions and blisters heal without scarring but can leave widespread hyperpigmentation. The age of onset of EBS is variable, with the most severe cases manifesting at birth and less severe cases first appearing when the child starts crawling or walking. Skin blistering often improves with age in the generalized severe forms. Progressive muscular dystrophy which can lead to respiratory distress is the hallmark of recessive EBS due to plectin deficiency (EBS with muscular dystrophy, EBS-MD).