Epidermolysis bullosa Simplex-Dowling–Meara mimicking epidermolysis bullosa simplex with mottled pigmentation
نویسندگان
چکیده
منابع مشابه
Epidermolysis Bullosa Simplex
The EBS subtype can be defined as EBS with blisters within epidermal basal keratinocytes or above, and it is distinguished from other subtypes whose levels of blister formation are deeper (JEB and DEB) or variable (KS). Mutations in several genes have been identified as being responsible for EBS phenotypes. The clinical manifestations of EBS vary greatly depending on the causative genes. Some E...
متن کاملEpidermolysis bullosa simplex with mottled pigmentation: a family report and review.
Epidermolysis bullosa simplex with mottled hyperpigmentation (EBS-MP) is an uncommon subtype of EBS. Its clinical features depend on the age of diagnosis, and clinical variations have been described even within family members. We present six cases from two unrelated Spanish families each with several affected members with EBS-MP and review the clinical and genetic findings in all reported patie...
متن کاملA Drosophila model of Epidermolysis Bullosa Simplex
The blistering skin disorder epidermolysis bullosa simplex (EBS) results from dominant mutations in keratin 5 (K5) or keratin 14 (K14) genes, encoding the intermediate filament (IF) network of basal epidermal keratinocytes. The mechanisms governing keratin network formation and collapse due to EBS mutations remain incompletely understood. Drosophila lacks cytoplasmic IFs, providing a 'null' env...
متن کاملA fixed denture for a child with epidermolysis bullosa simplex.
AIM To report the caries treatment and delivery of a fixed denture for a 3-year-old girl with epidermolysis bullosa simplex (EBS). CASE REPORT EBS is manifested on the skin or mucous membranes where skin separation is easily induced by trauma. Full- mouth rehabilitation under in-patient general anaesthesia was performed to the patient in conjunction with proper pre- and postoperative care. A ...
متن کاملEpidermolysis bullosa simplex: a paradigm for disorders of tissue fragility.
Epidermolysis bullosa (EB) simplex is a rare genetic condition typified by superficial bullous lesions that result from frictional trauma to the skin. Most cases are due to dominantly acting mutations in either keratin 14 (K14) or K5, the type I and II intermediate filament (IF) proteins tasked with forming a pancytoplasmic network of 10-nm filaments in basal keratinocytes of the epidermis and ...
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ژورنال
عنوان ژورنال: Journal of Dermatology and Dermatologic Surgery
سال: 2019
ISSN: 2352-2410
DOI: 10.4103/jdds.jdds_31_19