11 research outputs found
Further insights in trichothiodistrophy: A clinical, microscopic, and ultrastructural study of 20 cases and literature review
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
[Translated article] Immediate-Onset Linear Effluvium Associated With High-Density Hair Transplantation: A Series of 28 Case
We describe 28 patients who experienced effluvium with previously unreported features shortly after hair transplant surgery. Notable features were as follows: (a) a linear morphology; (b) immediate onset (1–3 days); (c) association with dense-pack grafting in areas of receding hairline at the temples (Mickey Mouse pattern); (d) a progressive increase in the diameter of the hair loss line (wave-like pattern); (e) in some cases, subsequent concentric linear effluvium on the crown (donut pattern); and (f) other forms of previously unreported immediate-onset effluvium. The linear morphology could be the result of dense packing, which can cause perilesional hypoxia and loss of miniaturized hairs around the recipient area. Since linear hair loss can cause patient concern about graft failure, we recommend taking images of transplanted and nontransplanted areas immediately after surgery and warning patients in advance about these transient effects, which are fully reversed in 3 months. Resumen: Describimos 28 pacientes que desarrollaron una forma de efluvio postrasplante capilar con características no descritas en la literatura: a) morfología lineal; b) aparición inmediata (uno a tres días); c) asociación con «dense packing» en entradas («signo de Mickey Mouse»); d) progresión del diámetro de la línea (patrón «wave-like»); e) posible adición posterior de efluvio lineal concéntrico a vértex («signo del donut»), y f) además de otros efluvios tampoco publicados por su inmediatez de aparición. La morfología lineal podría ser el resultado de la alta densidad colocada en nuestros pacientes, provocando hipoxia perilesional y efluvio de las unidades foliculares miniaturizadas que rodean la zona receptora. Debido a que la línea alopécica provoca inseguridad a los pacientes sobre una posible no colocación de injertos, recomendamos iconografía postoperatoria inmediata demostrando unión de áreas trasplantada y no trasplantada, así como la explicación previa al paciente de este fenómeno transitorio y completamente reversible en tres meses
Efluvio en línea de aparición inmediata asociado a trasplante capilar de alta densidad: descripción de 28 casos
Resumen: Describimos 28 pacientes que desarrollaron una forma de efluvio postrasplante capilar con características no descritas en la literatura: a) morfología lineal; b) aparición inmediata (1-3 días); c) asociación con ‘dense packing’ en entradas (‘signo de Mickey Mouse’); d) progresión del diámetro de la línea (patrón ‘wave-like’); e) posible adición posterior de efluvio lineal concéntrico a vértex (‘signo del Donut’), y f) además de otros efluvios tampoco publicados por su inmediatez de aparición. La morfología lineal podría ser el resultado de la alta densidad colocada en nuestros pacientes, provocando hipoxia perilesional y efluvio de las unidades foliculares miniaturizadas que rodean la zona receptora. Debido a que la línea alopécica provoca inseguridad a los pacientes sobre una posible no colocación de injertos, recomendamos iconografía postoperatoria inmediata demostrando unión de áreas trasplantada y no trasplantada, así como la explicación previa al paciente de este fenómeno transitorio y completamente reversible en 3 meses. Abstract: We describe 28 patients who experienced effluvium with previously unreported features shortly after hair transplant surgery. Notable features were as follows: a) a linear morphology; b) immediate onset (1-3 days); c) association with dense-pack grafting in areas of receding hairline at the temples (Mickey Mouse pattern); d) a progressive increase in the diameter of the hair loss line (wave-like pattern); e) in some cases, subsequent concentric linear effluvium on the crown (donut pattern); and f) other forms of previously unreported immediate-onset effluvium. The linear morphology could be the result of dense packing, which can cause perilesional hypoxia and loss of miniaturized hairs around the recipient area. Since linear hair loss can cause patient concern about graft failure, we recommend taking images of transplanted and nontransplanted areas immediately after surgery and warning patients in advance about these transient effects, which are fully reversed in 3 months
Comment on “Secukinumab drug survival in patients with psoriasis: A multicenter, real-world, retrospective study”
Comment on ‘Baseline patients’ characteristics as predictors for therapeutic survival and response in patients with psoriasis on biological treatments'
Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review
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