A novel microdeletion inLORcausing autosomal dominant loricrin keratoderma
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منابع مشابه
A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma
DEAR EDITOR, The dramatic presentation of a collodion baby is most commonly associated with a diagnosis of autosomal recessive ichthyosis (ARCI). We investigated a family wherein the father and all four children were collodion at birth, implying an autosomal dominant inheritance pattern. Postnatally, the affected individuals presented with variable degrees of generalized ichthyosis and palmopla...
متن کاملNovel autosomal dominant mutation in loricrin presenting as prominent ichthyosis
DEAR EDITOR, Loricrin keratoderma (syn. Camisa syndrome, OMIM 604117) is a rare autosomal dominant genodermatosis characterized by palmoplantar keratoderma and ichthyosis. It is caused by mutations in loricrin, a small basic protein synthesized in the upper granular layer, which becomes a major constituent of the cornified cell envelope. Seven distinct mutations in loricrin have been reported i...
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1. Cheek DB, Perry JW. A salt wasting syndrome in infancy. Arch Dis Child. 1958;33:252--6. 2. Hanukoglu A. Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab. 1991;73:936--44. 3. Bonny O, Rossier BC. Disturbances of Na/K balance: pseudohypoaldosteronism revisited. J Am Soc Nephrol. ...
متن کاملAutosomal recessive epidermolytic palmoplantar keratoderma.
Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders. Epidermolytic PPK is a well delineated autosomal dominant entity, but no recessive form is known. Here we report two sons of phenotypically normal, consanguineous, Arab parents with features suggestive of PPK. They presented with patchy eczematous skin lesions followed by PPK and raised serum levels of IgE. Skin biopsy from t...
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ژورنال
عنوان ژورنال: British Journal of Dermatology
سال: 2014
ISSN: 0007-0963
DOI: 10.1111/bjd.13361