Sabinas syndrome in monozygotic twins

D. R. López-García, J. C. Salas-Alanis, A. M. Christiano, J. Ocampo-Candiani, M. Gómez-Flores

Resultado de la investigación

1 Cita (Scopus)

Resumen

A pair of 2-year-old female monozygotic twins presented with short and brittle hair. There was marked reduction in hair density, and excessive curving of the eyelashes. Onychodystrophy was also evident. They also had developmental delay in verbal and motor skills. Neither their parents nor other relatives were known to be affected, and there was no history of consanguinity. Examination of the hair shaft under light microscopy showed trichoschisis, which was more evident under electron microscopy. Under polarized light, the hair shafts showed the pathognomonic 'tiger-tail' pattern. The level of sulphur in the hair was low. Both patients were negative for TTDN1 mutation. Clinical correlation was performed and the diagnosis of Sabinas syndrome was made. Sabinas syndrome is a very rare autosomal recessive disorder first described in a group of patients from a small community in north-eastern Mexico. It is diagnosable at birth, and its major symptoms include brittle hair, mental retardation and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy. © 2009 British Association of Dermatologists.
Idioma originalEnglish
PublicaciónClinical and Experimental Dermatology
DOI
EstadoPublished - 1 jul 2009
Publicado de forma externa

Huella dactilar

Monozygotic Twins
Hair
Light
Electron Microscopy
Eyelashes
Tigers
Consanguinity
Motor Skills
Nails
Mexico
Sabinas brittle hair syndrome
Sulfur
Intellectual Disability
Tail
Microscopy
Parents
Parturition
Mutation

All Science Journal Classification (ASJC) codes

  • Dermatology

Citar esto

López-García, D. R., Salas-Alanis, J. C., Christiano, A. M., Ocampo-Candiani, J., & Gómez-Flores, M. (2009). Sabinas syndrome in monozygotic twins. Clinical and Experimental Dermatology. https://doi.org/10.1111/j.1365-2230.2008.03197.x
López-García, D. R. ; Salas-Alanis, J. C. ; Christiano, A. M. ; Ocampo-Candiani, J. ; Gómez-Flores, M. / Sabinas syndrome in monozygotic twins. En: Clinical and Experimental Dermatology. 2009.
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title = "Sabinas syndrome in monozygotic twins",
abstract = "A pair of 2-year-old female monozygotic twins presented with short and brittle hair. There was marked reduction in hair density, and excessive curving of the eyelashes. Onychodystrophy was also evident. They also had developmental delay in verbal and motor skills. Neither their parents nor other relatives were known to be affected, and there was no history of consanguinity. Examination of the hair shaft under light microscopy showed trichoschisis, which was more evident under electron microscopy. Under polarized light, the hair shafts showed the pathognomonic 'tiger-tail' pattern. The level of sulphur in the hair was low. Both patients were negative for TTDN1 mutation. Clinical correlation was performed and the diagnosis of Sabinas syndrome was made. Sabinas syndrome is a very rare autosomal recessive disorder first described in a group of patients from a small community in north-eastern Mexico. It is diagnosable at birth, and its major symptoms include brittle hair, mental retardation and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy. {\circledC} 2009 British Association of Dermatologists.",
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López-García, DR, Salas-Alanis, JC, Christiano, AM, Ocampo-Candiani, J & Gómez-Flores, M 2009, 'Sabinas syndrome in monozygotic twins', Clinical and Experimental Dermatology. https://doi.org/10.1111/j.1365-2230.2008.03197.x

Sabinas syndrome in monozygotic twins. / López-García, D. R.; Salas-Alanis, J. C.; Christiano, A. M.; Ocampo-Candiani, J.; Gómez-Flores, M.

En: Clinical and Experimental Dermatology, 01.07.2009.

Resultado de la investigación

TY - JOUR

T1 - Sabinas syndrome in monozygotic twins

AU - López-García, D. R.

AU - Salas-Alanis, J. C.

AU - Christiano, A. M.

AU - Ocampo-Candiani, J.

AU - Gómez-Flores, M.

PY - 2009/7/1

Y1 - 2009/7/1

N2 - A pair of 2-year-old female monozygotic twins presented with short and brittle hair. There was marked reduction in hair density, and excessive curving of the eyelashes. Onychodystrophy was also evident. They also had developmental delay in verbal and motor skills. Neither their parents nor other relatives were known to be affected, and there was no history of consanguinity. Examination of the hair shaft under light microscopy showed trichoschisis, which was more evident under electron microscopy. Under polarized light, the hair shafts showed the pathognomonic 'tiger-tail' pattern. The level of sulphur in the hair was low. Both patients were negative for TTDN1 mutation. Clinical correlation was performed and the diagnosis of Sabinas syndrome was made. Sabinas syndrome is a very rare autosomal recessive disorder first described in a group of patients from a small community in north-eastern Mexico. It is diagnosable at birth, and its major symptoms include brittle hair, mental retardation and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy. © 2009 British Association of Dermatologists.

AB - A pair of 2-year-old female monozygotic twins presented with short and brittle hair. There was marked reduction in hair density, and excessive curving of the eyelashes. Onychodystrophy was also evident. They also had developmental delay in verbal and motor skills. Neither their parents nor other relatives were known to be affected, and there was no history of consanguinity. Examination of the hair shaft under light microscopy showed trichoschisis, which was more evident under electron microscopy. Under polarized light, the hair shafts showed the pathognomonic 'tiger-tail' pattern. The level of sulphur in the hair was low. Both patients were negative for TTDN1 mutation. Clinical correlation was performed and the diagnosis of Sabinas syndrome was made. Sabinas syndrome is a very rare autosomal recessive disorder first described in a group of patients from a small community in north-eastern Mexico. It is diagnosable at birth, and its major symptoms include brittle hair, mental retardation and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy. © 2009 British Association of Dermatologists.

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López-García DR, Salas-Alanis JC, Christiano AM, Ocampo-Candiani J, Gómez-Flores M. Sabinas syndrome in monozygotic twins. Clinical and Experimental Dermatology. 2009 jul 1. https://doi.org/10.1111/j.1365-2230.2008.03197.x