Principles of Clinical Diagnosis
Susan Bayliss Mallory, Alanna Bree, Peggy Chern in Illustrated Manual of Pediatric Dermatology, 2005
Major pointsCharacteristic thickening of the palms and soles (Figure 20.9)Three major patterns: diffuse, focal or punctuate (Figure 20.10)Can be inherited (autosomal or recessive) or acquiredCan be associated with ichthyoses or other abnormalitiesAssociated syndromes: Unna–Thost syndrome, Vohwinkel syndrome, pachyonychia congenita, tyrosinemia type II, epidermolytic hyperkeratosis, hidrotic ectodermal dysplasia, and other dermatoses such as psoriasis, atopic dermatitis, etc.
Disorders of keratinization and other genodermatoses
Ronald Marks, Richard Motley in Common Skin Diseases, 2019
Epidermolytic hyperkeratosis (EH) is a rare, autosomal dominant disorder of keratinization. As in NBIE, there is generalized erythema and the disorder is presaged by a collodion membrane at birth in some patients (see p. 265). The condition is characterized by the tendency to blister or develop erosions at the sites of trauma (Figs 18.8 and 18.9). The erythema and blistering improve with age. Scaling and hyperkeratosis is characteristically ridged or corrugated at flexures. EH is clinically heterogeneous and the most frequently encountered type is generalized all over the body. Other types include one with localization to the palms and soles and a type where the histological changes are seen only in epidermal naevi.
Fibrous tumors
Eckart Haneke in 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
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].
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].
Related Knowledge Centers
- Acitretin
- Gene Therapy
- Ichthyosis
- Isotretinoin
- Keratin
- Dominance
- Genetics
- Keratin 1
- Keratin 10
- Etretinate