Jadassohn-Lewandowsky syndrome. Report of the first pediatric case in Cuba
Jadassohn-Lewandowsky syndrome or congenital pachyonychia type 1 belongs to the rare diseases’ group. Worldwide, less than a thousand cases have been described to date and the one that is now published constitutes the first pediatric age report in Cuba. A seven-years-old male patient admitted to the...
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| Format: | Article |
| Language: | Spanish |
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Centro Provincial de Información de Ciencias Médicas. Cienfuegos
2023-05-01
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| Series: | Medisur |
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| Online Access: | http://medisur.sld.cu/index.php/medisur/article/view/5556 |
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| author | Migdalis Hidalgo Muñiz Aracelis Hernández García Andrés Andrés Matos Yadelis Maldonado Martínez |
| author_facet | Migdalis Hidalgo Muñiz Aracelis Hernández García Andrés Andrés Matos Yadelis Maldonado Martínez |
| author_sort | Migdalis Hidalgo Muñiz |
| collection | DOAJ |
| description | Jadassohn-Lewandowsky syndrome or congenital pachyonychia type 1 belongs to the rare diseases’ group. Worldwide, less than a thousand cases have been described to date and the one that is now published constitutes the first pediatric age report in Cuba. A seven-years-old male patient admitted to the Pediatric Clinic Service at the Holguín Provincial Pediatric Hospital with a history of yellow and hypertrophic nails since he was nine months old. The physical examination confirmed the presence of hypertrophic nail dystrophy in all 20 nails, keratosis follicularis on the elbows, hands and lower limbs, focal plantar keratoderma and oral leukokeratosis. An autosomal dominant inheritance pattern was identified. Based on the phenotypic characteristics and family history, the case presented was classified as congenital pachyonychia type 1, for which there is still no cure and gene therapy is under investigation. Due to the rareness of the disease and being the first pediatric age case in Cuba, its publication was decided. |
| format | Article |
| id | doaj-art-a681a324c87942e49469b24b5ba9f8cd |
| institution | Kabale University |
| issn | 1727-897X |
| language | Spanish |
| publishDate | 2023-05-01 |
| publisher | Centro Provincial de Información de Ciencias Médicas. Cienfuegos |
| record_format | Article |
| series | Medisur |
| spelling | doaj-art-a681a324c87942e49469b24b5ba9f8cd2025-01-30T21:29:00ZspaCentro Provincial de Información de Ciencias Médicas. CienfuegosMedisur1727-897X2023-05-012136906942286Jadassohn-Lewandowsky syndrome. Report of the first pediatric case in CubaMigdalis Hidalgo Muñiz0Aracelis Hernández García1Andrés Andrés Matos2Yadelis Maldonado Martínez3Hospital Pediátrico Provincial Octavio de la Concepción de la Pedraja. Holguín. Cuba.Hospital Pediátrico Provincial Octavio de la Concepción de la Pedraja. Holguín. Cuba.Hospital Pediátrico Provincial Octavio de la Concepción de la Pedraja. Holguín. Cuba.Hospital Pediátrico Provincial Octavio de la Concepción de la Pedraja. Holguín. Cuba.Jadassohn-Lewandowsky syndrome or congenital pachyonychia type 1 belongs to the rare diseases’ group. Worldwide, less than a thousand cases have been described to date and the one that is now published constitutes the first pediatric age report in Cuba. A seven-years-old male patient admitted to the Pediatric Clinic Service at the Holguín Provincial Pediatric Hospital with a history of yellow and hypertrophic nails since he was nine months old. The physical examination confirmed the presence of hypertrophic nail dystrophy in all 20 nails, keratosis follicularis on the elbows, hands and lower limbs, focal plantar keratoderma and oral leukokeratosis. An autosomal dominant inheritance pattern was identified. Based on the phenotypic characteristics and family history, the case presented was classified as congenital pachyonychia type 1, for which there is still no cure and gene therapy is under investigation. Due to the rareness of the disease and being the first pediatric age case in Cuba, its publication was decided.http://medisur.sld.cu/index.php/medisur/article/view/5556paquioniquia congénitaqueratodermiaqueratosisleucoplasia bucalenfermedades raras |
| spellingShingle | Migdalis Hidalgo Muñiz Aracelis Hernández García Andrés Andrés Matos Yadelis Maldonado Martínez Jadassohn-Lewandowsky syndrome. Report of the first pediatric case in Cuba Medisur paquioniquia congénita queratodermia queratosis leucoplasia bucal enfermedades raras |
| title | Jadassohn-Lewandowsky syndrome. Report of the first pediatric case in Cuba |
| title_full | Jadassohn-Lewandowsky syndrome. Report of the first pediatric case in Cuba |
| title_fullStr | Jadassohn-Lewandowsky syndrome. Report of the first pediatric case in Cuba |
| title_full_unstemmed | Jadassohn-Lewandowsky syndrome. Report of the first pediatric case in Cuba |
| title_short | Jadassohn-Lewandowsky syndrome. Report of the first pediatric case in Cuba |
| title_sort | jadassohn lewandowsky syndrome report of the first pediatric case in cuba |
| topic | paquioniquia congénita queratodermia queratosis leucoplasia bucal enfermedades raras |
| url | http://medisur.sld.cu/index.php/medisur/article/view/5556 |
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