Further insights in trichothiodistrophy: A clinical, microscopic, and ultrastructural study of 20 cases and literature review

Juan Ferrando, José M. Mir-Bonafé, Rodrigo Cepeda-Valdés, Anna Domínguez, Jorge Ocampo-Candiani, Javier García-Veigas, Minerva Gómez-Flores, Julio C. Salas-Alanis

Research output: Contribution to journalLiterature review

7 Citations (Scopus)

Abstract

Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article, we study clinical, microscopic, and ultrastructural findings of 20 patients with TTD with the aim to add further insights regarding to this rare condition. Additionally, analyses of our results are compared with those extracted from the literature in order to enhance its comprehensibility. Materials and Methods: Twenty cases of TTD were included: 7 from Mexico and 14 from Spain. Clinical, microscopic, scanning electron microscopy (SEM) studies and X-ray microanalysis (XrMa) were carried out in all of them. Genetic studies were performed in all seven Mexican cases. Patients with xeroderma pigmentosum and xeroderma pigmentosum/TTD-complex were excluded. Results: Cuticular changes and longitudinal crests of the hair shaft were demonstrated. These crests were irregular, disorganized, following the hair longest axis. Hair shaft sulfur deficiency was disposed discontinuously and intermittently rather than uniformly. This severe decrease of sulfur contents was located close to the trichoschisis areas. Only five patients did not show related disturbances. Micro-dolichocephaly was observed in five cases and represented the most frequent facial dysmorphism found. It is also remarkable that all patients with urologic malformations also combined diverse neurologic disorders. Moreover, three Mexican sisters demonstrated the coexistence of scarce pubic vellus hair, developmental delay, onychodystrophy, and maxillar/mandibullar hypoplasia. Conclusions: TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, blindness, lamellar ichthyosis and gonadal malformations. Herein, a multisystem study should be performed mandatorily in patients diagnosed with TTD.
Original languageEnglish
Pages (from-to)158-163
Number of pages6
JournalInternational Journal of Trichology
DOIs
Publication statusPublished - 1 Jul 2012
Externally publishedYes

Fingerprint

Hair
Sulfur
Xeroderma Pigmentosum
Lamellar Ichthyosis
Nervous System Malformations
Electron Probe Microanalysis
Blindness
Mexico
Nervous System Diseases
Spain
Siblings
Phenotype

Cite this

Ferrando, J., Mir-Bonafé, J. M., Cepeda-Valdés, R., Domínguez, A., Ocampo-Candiani, J., García-Veigas, J., ... Salas-Alanis, J. C. (2012). Further insights in trichothiodistrophy: A clinical, microscopic, and ultrastructural study of 20 cases and literature review. International Journal of Trichology, 158-163. https://doi.org/10.4103/0974-7753.100075
Ferrando, Juan ; Mir-Bonafé, José M. ; Cepeda-Valdés, Rodrigo ; Domínguez, Anna ; Ocampo-Candiani, Jorge ; García-Veigas, Javier ; Gómez-Flores, Minerva ; Salas-Alanis, Julio C. / Further insights in trichothiodistrophy: A clinical, microscopic, and ultrastructural study of 20 cases and literature review. In: International Journal of Trichology. 2012 ; pp. 158-163.
@article{af95912dbace4ef7b1633c3ce77d73c9,
title = "Further insights in trichothiodistrophy: A clinical, microscopic, and ultrastructural study of 20 cases and literature review",
abstract = "Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article, we study clinical, microscopic, and ultrastructural findings of 20 patients with TTD with the aim to add further insights regarding to this rare condition. Additionally, analyses of our results are compared with those extracted from the literature in order to enhance its comprehensibility. Materials and Methods: Twenty cases of TTD were included: 7 from Mexico and 14 from Spain. Clinical, microscopic, scanning electron microscopy (SEM) studies and X-ray microanalysis (XrMa) were carried out in all of them. Genetic studies were performed in all seven Mexican cases. Patients with xeroderma pigmentosum and xeroderma pigmentosum/TTD-complex were excluded. Results: Cuticular changes and longitudinal crests of the hair shaft were demonstrated. These crests were irregular, disorganized, following the hair longest axis. Hair shaft sulfur deficiency was disposed discontinuously and intermittently rather than uniformly. This severe decrease of sulfur contents was located close to the trichoschisis areas. Only five patients did not show related disturbances. Micro-dolichocephaly was observed in five cases and represented the most frequent facial dysmorphism found. It is also remarkable that all patients with urologic malformations also combined diverse neurologic disorders. Moreover, three Mexican sisters demonstrated the coexistence of scarce pubic vellus hair, developmental delay, onychodystrophy, and maxillar/mandibullar hypoplasia. Conclusions: TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, blindness, lamellar ichthyosis and gonadal malformations. Herein, a multisystem study should be performed mandatorily in patients diagnosed with TTD.",
author = "Juan Ferrando and Mir-Bonaf{\'e}, {Jos{\'e} M.} and Rodrigo Cepeda-Vald{\'e}s and Anna Dom{\'i}nguez and Jorge Ocampo-Candiani and Javier Garc{\'i}a-Veigas and Minerva G{\'o}mez-Flores and Salas-Alanis, {Julio C.}",
year = "2012",
month = "7",
day = "1",
doi = "10.4103/0974-7753.100075",
language = "English",
pages = "158--163",
journal = "International Journal of Trichology",
issn = "0974-7753",
publisher = "Medknow Publications and Media Pvt. Ltd",

}

Ferrando, J, Mir-Bonafé, JM, Cepeda-Valdés, R, Domínguez, A, Ocampo-Candiani, J, García-Veigas, J, Gómez-Flores, M & Salas-Alanis, JC 2012, 'Further insights in trichothiodistrophy: A clinical, microscopic, and ultrastructural study of 20 cases and literature review', International Journal of Trichology, pp. 158-163. https://doi.org/10.4103/0974-7753.100075

Further insights in trichothiodistrophy: A clinical, microscopic, and ultrastructural study of 20 cases and literature review. / Ferrando, Juan; Mir-Bonafé, José M.; Cepeda-Valdés, Rodrigo; Domínguez, Anna; Ocampo-Candiani, Jorge; García-Veigas, Javier; Gómez-Flores, Minerva; Salas-Alanis, Julio C.

In: International Journal of Trichology, 01.07.2012, p. 158-163.

Research output: Contribution to journalLiterature review

TY - JOUR

T1 - Further insights in trichothiodistrophy: A clinical, microscopic, and ultrastructural study of 20 cases and literature review

AU - Ferrando, Juan

AU - Mir-Bonafé, José M.

AU - Cepeda-Valdés, Rodrigo

AU - Domínguez, Anna

AU - Ocampo-Candiani, Jorge

AU - García-Veigas, Javier

AU - Gómez-Flores, Minerva

AU - Salas-Alanis, Julio C.

PY - 2012/7/1

Y1 - 2012/7/1

N2 - Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article, we study clinical, microscopic, and ultrastructural findings of 20 patients with TTD with the aim to add further insights regarding to this rare condition. Additionally, analyses of our results are compared with those extracted from the literature in order to enhance its comprehensibility. Materials and Methods: Twenty cases of TTD were included: 7 from Mexico and 14 from Spain. Clinical, microscopic, scanning electron microscopy (SEM) studies and X-ray microanalysis (XrMa) were carried out in all of them. Genetic studies were performed in all seven Mexican cases. Patients with xeroderma pigmentosum and xeroderma pigmentosum/TTD-complex were excluded. Results: Cuticular changes and longitudinal crests of the hair shaft were demonstrated. These crests were irregular, disorganized, following the hair longest axis. Hair shaft sulfur deficiency was disposed discontinuously and intermittently rather than uniformly. This severe decrease of sulfur contents was located close to the trichoschisis areas. Only five patients did not show related disturbances. Micro-dolichocephaly was observed in five cases and represented the most frequent facial dysmorphism found. It is also remarkable that all patients with urologic malformations also combined diverse neurologic disorders. Moreover, three Mexican sisters demonstrated the coexistence of scarce pubic vellus hair, developmental delay, onychodystrophy, and maxillar/mandibullar hypoplasia. Conclusions: TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, blindness, lamellar ichthyosis and gonadal malformations. Herein, a multisystem study should be performed mandatorily in patients diagnosed with TTD.

AB - Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article, we study clinical, microscopic, and ultrastructural findings of 20 patients with TTD with the aim to add further insights regarding to this rare condition. Additionally, analyses of our results are compared with those extracted from the literature in order to enhance its comprehensibility. Materials and Methods: Twenty cases of TTD were included: 7 from Mexico and 14 from Spain. Clinical, microscopic, scanning electron microscopy (SEM) studies and X-ray microanalysis (XrMa) were carried out in all of them. Genetic studies were performed in all seven Mexican cases. Patients with xeroderma pigmentosum and xeroderma pigmentosum/TTD-complex were excluded. Results: Cuticular changes and longitudinal crests of the hair shaft were demonstrated. These crests were irregular, disorganized, following the hair longest axis. Hair shaft sulfur deficiency was disposed discontinuously and intermittently rather than uniformly. This severe decrease of sulfur contents was located close to the trichoschisis areas. Only five patients did not show related disturbances. Micro-dolichocephaly was observed in five cases and represented the most frequent facial dysmorphism found. It is also remarkable that all patients with urologic malformations also combined diverse neurologic disorders. Moreover, three Mexican sisters demonstrated the coexistence of scarce pubic vellus hair, developmental delay, onychodystrophy, and maxillar/mandibullar hypoplasia. Conclusions: TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, blindness, lamellar ichthyosis and gonadal malformations. Herein, a multisystem study should be performed mandatorily in patients diagnosed with TTD.

U2 - 10.4103/0974-7753.100075

DO - 10.4103/0974-7753.100075

M3 - Literature review

SP - 158

EP - 163

JO - International Journal of Trichology

JF - International Journal of Trichology

SN - 0974-7753

ER -