Frontiers in medicine · 2026
Case Report: A case of Rothmund-Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Huang Chuhan, Liu Qingwu, Yang Dingquan
Аннотация
BACKGROUND: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis typically associated with mutations in the RECQL4 gene. However, some clinically diagnosed cases lack such variants, indicating genetic heterogeneity. ANAPC1, encoding a subunit of the anaphase-promoting complex (APC/C), has been implicated in RTS type 1, but its involvement in hair disorders remains unexplored.
CASE PRESENTATION: We report the case of a 29-year-old man who presented with lifelong sparse, fine scalp hair, bilateral malar erythema, soft fingernails, and dental anomalies (malocclusion with multiple caries). Routine laboratory tests were unremarkable except for reduced vitamins B1, B2, B6, and B9 (November 2024). Whole-exome sequencing (approximately 20,000 genes) identified a variant of uncertain significance in ANAPC1 (NM_022662.4:c.4907T>C, p.Val1636Ala); no reportable variants were found in ACMG-recommended secondary findings genes. Combination therapy (trazodone 50 mg qn, tanshinone capsules 1 g qid, isotretinoin 20 mg qod, topical halcinonide 10 mL mixed with minoxidil 60 mL 1 mL bid, and multivitamins 2 tablets tid) was initiated in November 2024. After 6 months, follow-up trichoscopy (May 2025) showed increased hair density and shaft thickness.
CONCLUSION: We describe a patient with a Rothmund-Thomson syndrome-like phenotype who carried a heterozygous ANAPC1 variant of uncertain significance (VUS) and showed trichoscopic improvement after combination therapy. This singular observation hints at a possible phenotypic expansion associated with ANAPC1 but cannot establish a new genotype-phenotype correlation. The clinical improvement underscores that symptomatic management can be beneficial in complex genodermatoses, even in the absence of a definitive molecular diagnosis. The pathogenicity of the ANAPC1 VUS remains unconfirmed, necessitating functional validation and segregation studies in future research.
CASE PRESENTATION: We report the case of a 29-year-old man who presented with lifelong sparse, fine scalp hair, bilateral malar erythema, soft fingernails, and dental anomalies (malocclusion with multiple caries). Routine laboratory tests were unremarkable except for reduced vitamins B1, B2, B6, and B9 (November 2024). Whole-exome sequencing (approximately 20,000 genes) identified a variant of uncertain significance in ANAPC1 (NM_022662.4:c.4907T>C, p.Val1636Ala); no reportable variants were found in ACMG-recommended secondary findings genes. Combination therapy (trazodone 50 mg qn, tanshinone capsules 1 g qid, isotretinoin 20 mg qod, topical halcinonide 10 mL mixed with minoxidil 60 mL 1 mL bid, and multivitamins 2 tablets tid) was initiated in November 2024. After 6 months, follow-up trichoscopy (May 2025) showed increased hair density and shaft thickness.
CONCLUSION: We describe a patient with a Rothmund-Thomson syndrome-like phenotype who carried a heterozygous ANAPC1 variant of uncertain significance (VUS) and showed trichoscopic improvement after combination therapy. This singular observation hints at a possible phenotypic expansion associated with ANAPC1 but cannot establish a new genotype-phenotype correlation. The clinical improvement underscores that symptomatic management can be beneficial in complex genodermatoses, even in the absence of a definitive molecular diagnosis. The pathogenicity of the ANAPC1 VUS remains unconfirmed, necessitating functional validation and segregation studies in future research.