Ichthyotic disorders
Biju Vasudevan, Rajesh Verma in Dermatological Emergencies, 2019
Trichothiodystrophy (TTD) is an autosomal recessive disorder with dry, brittle, cysteine-deficient hair with multisystem involvement. Patients usually present with collodion baby phenotype with CIE at birth. There is erythema with fine to lamellar scaling all over the body (Figure 22.10). With age, ichthyosis improves, leaving the mild lamellar type of ichthyosis. Palmoplantar keratoderma is present. Syndromes associated with TTD include IBIDS (ichthyosis, brittle hair, impairment of intelligence, decreased fertility, and short stature) and PIBIDS (photosensitivity, ichthyosis, brittle hair, impairment of intelligence, decreased fertility, and short stature) syndromes [16]. Diagnosis of TTD can be confirmed by hair shaft examination under polarized light microscopy, which shows alternate light and dark bands (tiger-tail appearance) (Figure 22.11).
Clinical Aspects and Differential Diagnosis of Atopic Dermatitis
Donald Rudikoff, Steven R. Cohen, Noah Scheinfeld in Atopic Dermatitis and Eczematous Disorders, 2014
Pityriasis rubra pilaris (PRP) is an uncommon dermatosis that often evolves cephalocaudally, progressing from follicular hyperkeratotic papules to a generalized erythroderma with characteristic islands of normal skin. Palmoplantar keratoderma and dystrophic nails are usually present. The disease is often mistaken for the more common erythrodermic AD. Classic juvenile PRP (type III) usually occurs in the late teens, accounting for 10% of all cases and differing only by age of onset from the adult variant (type I) (Griffiths’ criteria) (Griffiths 1980, 1992, Allison et al. 2002). Curiously, adult-onset PRP may have very atypical features (type II). Circumscribed juvenile PRP (type IV) represents almost 25% of all cases (Allison et al. 2002). This form occurs in prepubertal children as sharply demarcated areas of follicular hyperkeratosis, as well as erythema of the knees and the elbows that rarely progresses. In more darkly pigmented children, erythema may not be apparent, obscuring the diagnosis unless hyperpigmented plaques develop with prominent follicular hyperkeratosis on the elbows and knees (Fig 3.66).
Mitochondrial Dysfunction and Hearing Loss
Shamim I. Ahmad in Handbook of Mitochondrial Dysfunction, 2019
The first time this disease was described it was known as Deafness nonsyndromic sensorineural. Sevior et al. in 1998 found that many relatives had palmoplantar keratoderma in addition to deafness. This HL was associated to mutations in MT-TS1, 7445A-G genes.27 The HL clinical characteristics are: postlingual, progressive and high frequencies are involved. These findings are very similar to some autosomal dominant HL.27 The 7445A-G mutation changes the stop codon AGA of the heavy-strand (H-strand)-encoded mRNA for subunit COI of cytochrome c oxidase to an AGG codon, and at the same time, changes a U-to-C transition in the light-strand (L-strand)-encoded tRNA-ser (UCN) precursor.28,29
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).
Related Knowledge Centers
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