1. HomozygousSLCO2A1translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing
- Author
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Saadullah Khan, Abid Jan, Muhammad Umair, Khadim Shah, Richard A. Spritz, Tracey M. Ferrara, Wasim Ahmad, and Irfanullah
- Subjects
Male ,0301 basic medicine ,Heterozygote ,Codon, Initiator ,Nails, Malformed ,Organic Anion Transporters ,Genes, Recessive ,Dermatology ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Broad nail ,Nail clubbing ,Humans ,Medicine ,Pakistan ,Primary Hypertrophic Osteoarthropathy ,integumentary system ,business.industry ,Homozygote ,Genodermatosis ,Anatomy ,Phalanx ,Nail plate ,medicine.disease ,Pedigree ,body regions ,030104 developmental biology ,medicine.anatomical_structure ,Protein Biosynthesis ,Mutation ,Nail (anatomy) ,Female ,medicine.symptom ,business ,Nail matrix - Abstract
Isolated congenital nail clubbing (ICNC; OMIM 119900) is a rare genodermatosis in which bilateral, symmetric enlargement of the nail plate and terminal segments of fingers and/or toes results from excessive proliferation of connective tissue between the nail matrix and distal phalanx. Loss of the normal angle between the nail and posterior nail fold is associated with a shiny, hypoplastic, thick-ended, long, broad nail. The thumbs are almost always involved, though some fingers or toes may be spared. Both autosomal dominant and autosomal recessive forms of ICNC have been described, sometimes associated with other systemic anomalies, which may include primary hypertrophic osteoarthropathy (PHO), the similar disorder pachydermoperiostitis (PDP), as well as cardiovascular, gastrointestinal, pulmonary and metabolic disorders.1,2 This article is protected by copyright. All rights reserved.
- Published
- 2017
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