China
Africa
Explore chapters and articles related to this topic
Blistering skin disorders
Published in Ronald Marks, Richard Motley, Common Skin Diseases, 2019
The blistering in this rare disorder appears subepidermal, but is actually through the basal layer of the epidermis. It is usually limited to the hands and feet and the sites of trauma. It is dominantly inherited. The blisters may just be confined to the soles of the feet and not prove troublesome until adolescence. As with most genodermatoses, these conditions persist throughout life. There is no effective treatment other than to avoid trauma and to keep the blistered areas clean and dry.
Collodion baby and harlequin ichthyosis
Published in Biju Vasudevan, Rajesh Verma, Dermatological Emergencies, 2019
D. V. Lakshmi, Sahana M. Srinivas
Congenital ichthyosis (CI) is an inherited heterogenous group of cornification disorders characterized by excessive scaling and desquamation of the skin. It can be an isolated entity or syndromic, often posing a diagnostic challenge for clinicians. The collodion baby and harlequin fetus are phenotypic forms of CI, a mere outlook of underlying primary ichthyosiform disorder. Both collodion and harlequin fetus are high-risk newborns to be nursed in intensive care during the neonatal period due to a disrupted skin barrier that worsens the physiologically fragile skin of the newborn. Thus, a primary genodermatosis with skin barrier dysfunction manifesting at birth is a call for intensive care and intervention.
Genodermatoses
Published in Dimitris Rigopoulos, Alexander C. Katoulis, Hyperpigmentation, 2017
In this chapter, genodermatoses characterized by hyperpigmentation are discussed. Congenital forms of hyperpigmentation with an increased number of melanocytes include disorders with multiple lentigines and nevocellular or melanocytic nevi. On the other hand, altered genetic signaling cascades of melanogenesis may cause an increase in melanin levels, without increasing the number of melanocytes, and result in congenital disorders with extensive hyperpigmentation (Table 19.1).
Current developments in gene therapy for epidermolysis bullosa
Published in Expert Opinion on Biological Therapy, 2022
Thomas Kocher, Igor Petkovic, Johannes Bischof, Ulrich Koller
In recent years, gene therapies for genodermatoses have steadily become the focus of research. Several therapeutic strategies, based on RNA/DNA repair or substitution, are already at both preclinical and clinical stage (Figure 1). The monogenetic skin disease epidermolysis bullosa (EB) represents a strong gene therapy target, as pathogenic mutations in at least 16 unique genes, which are crucial for skin integrity, result in severe phenotypes [1]. EB is characterized by the formation of extended blisters and lesions on the skin and mucous membranes upon minimal mechanical trauma. Clinical and genetic aspects, genotype–phenotype correlations as well as disease-modifying factors of EB were thoroughly reviewed by Has and colleagues [1]. With ~500,000 people affected worldwide, EB is a rare and very heterogeneous skin disease, which can be divided into four major subtypes. Mutations within keratin 5, 14 and plectin lead to epidermolysis bullosa simplex (EBS), associated with intraepidermal blistering, whereas junctional EB (JEB) is caused by mutations in genes coding for laminin-332, type XVII collagen (C17) and integrin-α6β4. This form of EB is characterized by blistering within the lamina lucida of the basement membrane. Mutations within COL7A1, encoding type VII collagen (C7), are responsible for a particularly severe form of EB, dystrophic EB (DEB), while Kindler syndrome is caused by mutations within the KIND1 gene [1,2].
Palliative dermatology – An area of care yet to be explored
Published in Progress in Palliative Care, 2018
N. A. Bishurul Hafi, N. A. Uvais
Many of the rare debilitating genodermatoses like dystrophic epidermolysis bullosa will definitely require palliative care.28 The need for palliative care in HIV/AIDS patients with various medical and surgical problems, which include dermatological conditions too, is well discussed.29 Many serious opportunistic infections in AIDS which require ICU treatment and subsequent palliative care (Penicilliosis, Cryptococcosis, Histoplasmosis, Cryptosporidiosis, etc.) can affect skin exclusively or with systemic affection. In the study mentioned above, they found a significant reduction in the use of blood products, antibiotics, HAART, and prophylaxis for opportunistic infections, in patients evaluated by the palliative care team. In malignancies associated with HIV like kaposis sarcoma and lymphoma, the cutaneous component is significantly present. Even patients with neuropathic pain such as trigeminal neuralgia and post herpetic neuralgia may require pain and palliative management.30
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
Hereditary Epidermolysis Bullosa (EB) are a group of genodermatoses that are transmitted in an autosomal dominant or autosomal recessive mode. They are characterized by fragility of the skin and mucous membranes leading to the formation of blisters and erosions [1,2] (Table 1). EB are now divided into four subtypes according to the level of cleavage within the dermal-epidermal junction: EB simplex (EBS) where cleavage occurs within the epidermis, junctional EB (JEB) with separation within the lamina lucida, dystrophic EB (DEB) where detachment arises below the lamina densa [3] and Kindler EB (KEB), which can present cleavage at any level of the dermal-epidermal junction [1].