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Tylosis with Esophageal Cancer
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
First described by Howell-Evans et al. in 1958, TOC (also referred to as Howell-Evans syndrome, Clarke−Howell-Evans−McConnell syndrome, Bennion−Patterson syndrome, tylosis-esophageal carcinoma, palmoplantar hyperkeratosis-esophageal carcinoma syndrome, PPK with esophageal cancer, familial keratoderma with carcinoma of the esophagus, focal non-epidermolytic PPK with carcinoma of the esophagus, keratosis palmaris et plantaris with esophageal cancer, palmoplantar ectodermal dysplasia type III, and keratosis palmoplantaris−esophageal carcinoma syndrome) is a genetic disorder that typically shows non-epidermolytic palmoplantar keratoderma, oral leukoplakia, and an increased risk of developing squamous cell carcinoma of the esophagus [1,2].
Fibrous tumors
Published in Eckart Haneke, Histopathology of the NailOnychopathology, 2017
Knuckle pads are similar to irritation or friction induced acanthomas and lichen simplex chronicus. In pseudo-knuckle pads due to biting, the epidermis shows signs of excessive superficial traumatization. The dermal changes are very similar to those of Dupuytren's contracture and the two disorders may occur in association.24 In epidermolytic palmoplantar keratoderma due to a keratin 9 mutation, the epidermis shows the characteristic granular clumping of tonofibrils already seen in suprabasal keratinocytes.25
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
The Naxos disease phenotype is categorized into cardiac manifestations and extracardiac characteristics. Typically, woolly, rough, dull hair that was apparent from birth [9], and diffuse non-epidermolytic palmoplantar keratoderma, which developed during the first year of life, as soon as the child started using hands and feet, were present in all patients [9]. Some patients present with short fingers, curved nails, and small arms and hands [2]. In more detail, patients’ lesions were described as tight woolly hair and diffuse palmoplantar keratosis, occasionally erythematous, not extending to the dorsal area. Furthermore, those lesions are reported to have clear borders [14]. Hypo/oligodontia has also been reported in association with the phenotype of woolly hair, keratoderma, and cardiomyopathy [15].