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Disorders of keratinization and other genodermatoses
Published in Rashmi Sarkar, Anupam Das, Sumit Sethi, Concise Dermatology, 2021
The disease is usually more severe than ichthyosis vulgaris. Scales are larger and dark brown in color and predominantly affect extensors. However, there might be significant involvement of the flexures in many cases. The face and neck are often involved, leading to significant cosmetic impairment. Corneal opacities, cryptorchidism, and increased incidence of testicular cancer are observed in affected males.
Retinoids in Keratinization Disorders
Published in Ayse Serap Karadag, Berna Aksoy, Lawrence Charles Parish, Retinoids in Dermatology, 2019
Ichthyosis vulgaris is an autosomal dominant disease with a prevalence of about 1/250. Profilaggrin mutations can cause ichthyosis vulgaris. The dryness is usually mild, and symptoms may be few. The scales and dryness occur mostly on the extensor part of the extremities and palmoplantar creases and less frequently on the flexures. Keratosis pilaris is common on arms and legs. The skin manifestations are usually present in early childhood. Lesions can disappear in adult life, particularly during summer.
The skin
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Ichthyosis vulgaris may be associated with mutations in the filaggrin gene, which act in a semi-dominant fashion. Deficiency of steroid sulphatase has been shown to be responsible for X-linked ichthyosis, in addition to causing postmaturity through effects on placental function. A remarkably high proportion of cases (over 90%) are found to result from gene deletion, reflecting its localisation near the chiasma-dense junction with the Xp pseudoautosomal region. Several X-linked syndromes with ichthyosis are due to contiguous gene deletion syndromes in this region, analogous to those around the Duchenne locus.
Dry skin management: practical approach in light of latest research on skin structure and function
Published in Journal of Dermatological Treatment, 2020
Ehrhardt Proksch, Enzo Berardesca, Laurent Misery, Johan Engblom, Joke Bouwstra
From the genetic perspective, dry skin is likely to be the result of a number of mutations across different pathways. Some of these pathways are related to certain dermatological conditions. For instance, atopic dermatitis and ichthyosis vulgaris are associated with mutations to the gene coding for the structural protein filaggrin. A deficiency in filaggrin, and its degradation products which are part of the NMF, is associated with dry skin (1,5). NMF is a mixture of hygroscopic compounds important for maintaining adequate skin hydration. Other mutations associated with dry skin conditions involve the involucrin gene or certain aquaporin genes (6,7).
Mindfulness-Based Cognitive Hypnotherapy and Skin Disorders
Published in American Journal of Clinical Hypnosis, 2018
Hypnosis has been used to assist in improving a wide variety of skin disorders. These include acne excoriée, alopecia areata, atopic dermatitis, congenital ichthyosiform erythroderma, dyshidrotic dermatitis, erythromelalgia, furuncles, glossodynia, herpes simplex, hyperhidrosis, ichthyosis vulgaris, lichen planus, neurodermatitis, nummular dermatitis, postherpetic neuralgia, pruritus, psoriasis, rosacea, trichotillomania, urticaria, verruca vulgaris, and vitiligo (Shenefelt, 2000). Behavioral medicine approaches using hypnosis for skin disorders such as acne, eczema, herpes, neurodermatitis, pruritus, psoriasis, and warts have been successful (Brown & Fromm, 1987, pp. 126–134). When hypnotic suggestion proves insufficient, such as for resistant warts, prurigo nodularis, or erythema nodosum, psychosomatic hypnoanalysis can often produce improvement or resolution (Shenefelt, 2007). Psychosomatic hypnoanalysis has also been reported effective in specific cases for herpes simplex, neurodermatiits, urticaria from chocolate, and persistent warts resistant to ordinary hypnotic suggestion (Ewin & Eimer, 2006, pp. 73–92). The affect bridge technique or the somatic bridge technique is often employed. Cheek and LeCron’s seven key factors can be recalled by the mnemonic C.O.M.P.A.S.S. for Conflict, Organ language (skin), Motivation or secondary gain, Past traumatic experiences, Active identification with a significant person, Self-punishment, and Suggestion or imprint (Shenefelt, 2010). If there is still no response, where appropriate spiritual aspects can be explored and if spiritual blockages are present they can be removed to allow healing to proceed (Shenefelt & Shenefelt, 2014). Spiritual experiences often involve trance and can be explored through hypnosis. Hypnotic relaxation for dermatologic procedures and surgeries has been shown to significantly reduce anxiety associated with the procedures (Shenefelt, 2013).