Congenital autosomal recessive cutis laxa 2A
نویسندگان
چکیده
منابع مشابه
Congenital cutis laxa syndrome: type II autosomal recessive inheritance.
Cutis laxa is a term that refers to markedly loose skin that is not hyperelastic. It is regarded as a genetically heterogeneous group of diseases and is presently divided into five types. We report a male patient with type II autosomal recessive disease. The patient was the third child of first-cousin consanguineous, healthy parents. His two siblings died a few hours after birth. One of the sib...
متن کاملDiscriminative 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 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 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 کامل"dermatoglyphic observations in an iranian girl affected with congenital cutis laxa (autosomal recessive)"
the aim of the this work was to determine the finger patterns, finger ridge count (frc), total finger ridge count (tfrc), and asymmetry of finger ridge count (afrc) of an iranian girl (aged 13 years) affected with congenital cutis laxa (ccl).the fingerprints of the first phalanx of both hands were taken by using the standard method (stamp ink). the fingerprints were classified according to the ...
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ژورنال
عنوان ژورنال: Indian Journal of Child Health
سال: 2021
ISSN: 2349-6118,2349-6126
DOI: 10.32677/ijch.2021.v08.i05.006