Mechanisms of emphysema in autosomal dominant cutis laxa
نویسندگان
چکیده
منابع مشابه
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar...
متن کاملMutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Defects of the V-type proton (H+) ATPase (V-ATPase) impair acidification and intracellular trafficking of membrane-enclosed compartments, including secretory granules, endosomes, and lysosomes. Whole-exome sequencing in five families affected by mild to severe cutis laxa, dysmorphic facial features, and cardiopulmonary involvement identified biallelic missense mutations in ATP6V1E1 and ATP6V1A,...
متن کاملTwenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
BACKGROUND Elastin gene mutations have been associated with a variety of phenotypes. Autosomal dominant cutis laxa (ADCL) is a rare disorder that presents with lax skin, typical facial characteristics, inguinal hernias, aortic root dilatation and pulmonary emphysema. In most patients, frameshift mutations are found in the 3' region of the elastin gene (exons 30-34) which result in a C-terminall...
متن کاملCutis laxa autosomal recessive type II or wrinkly skin syndrome?
1. Gutte R, Khopkar U. Predominant palmoplantar lichen planus: A diagnostic challenge. Indian J Dermatol 2014;59:343‐7. 2. Pavitran K, Karunakaram M, Palit A, Raghunatha S. On disorders of keratinisation. In: Valia RG, Valia AR, editors. IADVL Textbook of Dermatology. 3rd ed. Mumbai, India: Bhalani Publishers; 2008. p. 995‐1069. 3. Gutte RM. Unilateral acrosyringeal lichen planus of palm. India...
متن کاملThe dominant and recessive forms of cutis laxa.
Cutis laxa is a very rare, genetically determined disorder of elastin, characterized clinically by a tendency of the skin to hang in loose folds, with the production of a typical grotesque facies and the appearance of premature ageing. These changes may be present at birth or may develop during infancy. Systemic ramifications may be widespread and, in particular, the pulmonary and cardiovascula...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Matrix Biology
سال: 2010
ISSN: 0945-053X
DOI: 10.1016/j.matbio.2010.06.005