Naxos disease
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《美国医学杂志》
Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER) Pondicherry, India
Abstract
Naxos disease (OMIM 601214) characterized by wooly hair, palmoplantar keratoderma and dilated cardiomyopathy in two Indian children of the same family is described.
Keywords: Naxos disease; Wooly hair; Keratoderma; Cardiomyopathy
Here are described two children from the same family affected by Naxos disease. This disease includes wooly hair, palmo plantar keratoderma and arrhythmogenic right ventricular dysplasia/dilated cardiomyopathy. This rare disease is not reported in Indian pediatric population so far and hence this report.
Case Report
A 2-year-old girl with mild developmental delay, presented with respiratory distress and poor feeding for a week. On examination, her scalp hair was aparse, fine, pale, curly and brittle having the appearance of wolly hair. Her palms and soles showed diffuse hyperkeratotic, dry yellowish lesions with scaling and fissuring. There was no sweating noted in these dry areas. She also had cleft lip and palate (repaired) and features of congestive cardiac failure Figure1. Her echocardiography revealed dilatation of all chambers Figure2. The left ventricle showed global hypokinesia and the ejection fraction was 40%. Her electrocardiography did not show any conduction abnormality. She was the third sibling born to consanguineous parents and the previous sibling, had died recently due to dilated cardiomyopathy. She also had similar features of the skin and hair. However, none of her other relatives had similar problem. With the positive family history, an OMIM search was done and a diagnosis of Naxos disease was considered.[1] Her cardiac failure was controlled with digoxin and frusemide and she was discharged after 10 days. Unfortunately her parents discontinued the administration of the antifailure drugs and she presented in severe cardiogenic shock a month later and could not be revived.
Discussion
Naxos disease is an autosomal recessive disorder that combines palmoplantar keratoderma and other ectodermal features with cardiac disorders suggesting arrhythmogenic right ventricular dysplasia/cardiomyopathy. It was first reported in families on the Greek island of Naxos by Protonotarios et al.[1] The association of curly hair and the cardiac abnormality with palmoplantar keratoderma is reported in literature. [2],[3],[4],[5] McKoy et al identified homozygosity for a 2-basepair deletion in the plakoglobin gene in 19 affected individuals with Naxos disease.[6] Carvajal syndrome (OMIM 605676) is another entity with similar features caused by mutation in desmoplakin gene. Without identification of mutation Naxos disease and Carvajal syndrome cannot be differentiated.
Naxos disease is characterized by wolly hair, diffuse palmoplanter keratoderma with clear borders and sometimes erythematous appearing within the first year of life. Cardiac abnormalities will not appear unit late puberty which include ventricular arrhythmias, heart failure, dilated cardiomyopathy or even sudden death. In the present child, the electrocardiography did not reveal any arrhythmia. The presence of cleft lip and palate are additional featues not reported with naxos disease. Whenever woolly hair is associated with any kind of palmoplantar keratoderma, a search for possible cardiac abnormalities is recommended.[2]
References
1. Protonotarios N, Tsatsopoulou A, Patsourakos P, Alexopoulos D, Gezerlis P, Simitsis S, Scampardonis G. Cardiac abnormalities in familial palmoplantar keratosis. Brit. Heart J 1986; 56 : 321-326.
2. Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with wooly hair and dilated cardiomyopathy. J Am Acad Dermatol 1998; 39 : 418-421.
3. Barker JN, Protonatorios N, Tsatopoulou A, MacDonald DM. Palmoplantar keratoderma, curly hair and endomyocardial fibrodysplasia : a new syndrome. Brit J Derm 1988; 119 (suppl. 33) : 13-14.
4. Rao BH, Reddy IS, Chandra KS. Familial occurrence of a rare combination of dilated cardiomyopathy with palmo plantar keratoderma and curly hair. Ind Heart J 1996; 48 : 161-162.
5. Tosti, A, Misciali C, Piraccini BA, Fanti PA, Barbareschi M, Ferretti RM. Woolly hair, palmoplantar keratoderma, and cardiac abnormalities: report of a family. Arch Dermatol 1994; 130 : 522-524.
6. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000; 355 : 2119-2124.(Adhisivam B, Mahadevan S)
Abstract
Naxos disease (OMIM 601214) characterized by wooly hair, palmoplantar keratoderma and dilated cardiomyopathy in two Indian children of the same family is described.
Keywords: Naxos disease; Wooly hair; Keratoderma; Cardiomyopathy
Here are described two children from the same family affected by Naxos disease. This disease includes wooly hair, palmo plantar keratoderma and arrhythmogenic right ventricular dysplasia/dilated cardiomyopathy. This rare disease is not reported in Indian pediatric population so far and hence this report.
Case Report
A 2-year-old girl with mild developmental delay, presented with respiratory distress and poor feeding for a week. On examination, her scalp hair was aparse, fine, pale, curly and brittle having the appearance of wolly hair. Her palms and soles showed diffuse hyperkeratotic, dry yellowish lesions with scaling and fissuring. There was no sweating noted in these dry areas. She also had cleft lip and palate (repaired) and features of congestive cardiac failure Figure1. Her echocardiography revealed dilatation of all chambers Figure2. The left ventricle showed global hypokinesia and the ejection fraction was 40%. Her electrocardiography did not show any conduction abnormality. She was the third sibling born to consanguineous parents and the previous sibling, had died recently due to dilated cardiomyopathy. She also had similar features of the skin and hair. However, none of her other relatives had similar problem. With the positive family history, an OMIM search was done and a diagnosis of Naxos disease was considered.[1] Her cardiac failure was controlled with digoxin and frusemide and she was discharged after 10 days. Unfortunately her parents discontinued the administration of the antifailure drugs and she presented in severe cardiogenic shock a month later and could not be revived.
Discussion
Naxos disease is an autosomal recessive disorder that combines palmoplantar keratoderma and other ectodermal features with cardiac disorders suggesting arrhythmogenic right ventricular dysplasia/cardiomyopathy. It was first reported in families on the Greek island of Naxos by Protonotarios et al.[1] The association of curly hair and the cardiac abnormality with palmoplantar keratoderma is reported in literature. [2],[3],[4],[5] McKoy et al identified homozygosity for a 2-basepair deletion in the plakoglobin gene in 19 affected individuals with Naxos disease.[6] Carvajal syndrome (OMIM 605676) is another entity with similar features caused by mutation in desmoplakin gene. Without identification of mutation Naxos disease and Carvajal syndrome cannot be differentiated.
Naxos disease is characterized by wolly hair, diffuse palmoplanter keratoderma with clear borders and sometimes erythematous appearing within the first year of life. Cardiac abnormalities will not appear unit late puberty which include ventricular arrhythmias, heart failure, dilated cardiomyopathy or even sudden death. In the present child, the electrocardiography did not reveal any arrhythmia. The presence of cleft lip and palate are additional featues not reported with naxos disease. Whenever woolly hair is associated with any kind of palmoplantar keratoderma, a search for possible cardiac abnormalities is recommended.[2]
References
1. Protonotarios N, Tsatsopoulou A, Patsourakos P, Alexopoulos D, Gezerlis P, Simitsis S, Scampardonis G. Cardiac abnormalities in familial palmoplantar keratosis. Brit. Heart J 1986; 56 : 321-326.
2. Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with wooly hair and dilated cardiomyopathy. J Am Acad Dermatol 1998; 39 : 418-421.
3. Barker JN, Protonatorios N, Tsatopoulou A, MacDonald DM. Palmoplantar keratoderma, curly hair and endomyocardial fibrodysplasia : a new syndrome. Brit J Derm 1988; 119 (suppl. 33) : 13-14.
4. Rao BH, Reddy IS, Chandra KS. Familial occurrence of a rare combination of dilated cardiomyopathy with palmo plantar keratoderma and curly hair. Ind Heart J 1996; 48 : 161-162.
5. Tosti, A, Misciali C, Piraccini BA, Fanti PA, Barbareschi M, Ferretti RM. Woolly hair, palmoplantar keratoderma, and cardiac abnormalities: report of a family. Arch Dermatol 1994; 130 : 522-524.
6. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000; 355 : 2119-2124.(Adhisivam B, Mahadevan S)