Ferrando Juan, Mir-Bonafé José M, Cepeda-Valdés Rodrigo, Domínguez Anna, Ocampo-Candiani Jorge, García-Veigas Javier, Gómez-Flores Minerva, Salas-Alanis Julio C
Department of Dermatology, Hospital Clinic, Barcelona, Spain.
Int J Trichology. 2012 Jul;4(3):158-63. doi: 10.4103/0974-7753.100075.
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.
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.
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.
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.
毛发硫营养不良症（TTD）是一种罕见的常染色体隐性疾病，其特征是由于硫缺乏导致特定的先天性毛干发育异常，并伴有广泛的多系统异常。在本文中，我们研究了20例TTD患者的临床、显微镜和超微结构表现，旨在进一步深入了解这种罕见疾病。此外，我们将研究结果与从文献中提取的结果进行分析比较，以提高其可理解性。
纳入20例TTD患者：7例来自墨西哥，14例来自西班牙。对所有患者进行了临床、显微镜、扫描电子显微镜（SEM）研究和X射线微分析（XrMa）。对所有7例墨西哥患者进行了基因研究。排除患有色素性干皮病和色素性干皮病/TTD复合体的患者。
观察到毛干的角质层变化和纵向嵴。这些嵴不规则、无序，沿着毛发的最长轴分布。毛干硫缺乏呈间断性和间歇性分布，而非均匀分布。硫含量的严重降低位于毛发分裂区域附近。只有5例患者未出现相关异常。5例患者观察到小头畸形，这是最常见的面部畸形。同样值得注意的是，所有泌尿系统畸形患者还合并了多种神经系统疾病。此外，墨西哥的三姐妹表现出阴毛稀少、发育迟缓、甲营养不良以及上颌骨/下颌骨发育不全并存。
TTD的表型差异很大，从非常轻微的形式到严重的改变，如神经异常、失明、板层状鱼鳞病和性腺畸形。在此，对于诊断为TTD的患者，必须进行多系统研究。
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