Skin appendage disorders · 2026
Nail Changes in Congenital Insensitivity to Pain with Anhidrosis: A Case Report.
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.
Najeeb Aysha, Gaurav Vishal, Verma Kaushal K
Аннотация
INTRODUCTION: Nail changes often reflect underlying systemic disease and may be the presenting manifestation of rare genetic disorders. Here, we report 2 siblings with congenital insensitivity to pain with anhidrosis (CIPA) with prominent nail findings.
CASE REPORT: We report two brothers who presented with prominent nail abnormalities including dystrophy, brachyonychia, anonychia, paronychia, and pseudo-clubbing, along with acro-osteolysis of distal phalanges. Subsequent evaluation revealed insensitivity to pain and temperature, intellectual disability, recurrent fractures, self-mutilation, and anhidrosis, leading to a diagnosis of CIPA. Genetic analysis confirmed a novel homozygous NTRK1 gene deletion.
CONCLUSION: This report highlights the importance of nail manifestations as potential diagnostic indicators of CIPA.
CASE REPORT: We report two brothers who presented with prominent nail abnormalities including dystrophy, brachyonychia, anonychia, paronychia, and pseudo-clubbing, along with acro-osteolysis of distal phalanges. Subsequent evaluation revealed insensitivity to pain and temperature, intellectual disability, recurrent fractures, self-mutilation, and anhidrosis, leading to a diagnosis of CIPA. Genetic analysis confirmed a novel homozygous NTRK1 gene deletion.
CONCLUSION: This report highlights the importance of nail manifestations as potential diagnostic indicators of CIPA.