Werner syndrome

Japanese: ウェルナー症候群 - ウェルナーしょうこうぐん（英語表記）Werner syndrome

What is the disease?

Premature aging ( Souroushou ) It is a typical disease that exhibits various symptoms similar to physiological aging.

What is the cause?

It is caused by genetic abnormalities in enzymes involved in the replication, repair, recombination, and transcription of DNA (deoxyribonucleic acid).

How symptoms manifest

1) Characteristic body shape (short stature, thin limbs, beer barrel-like body shape, etc.), 2) Signs of premature aging (gray hair, arteriosclerosis, hoarse voice, Cataracts ( Disclaimer ) etc.), ③ Scleroderma ( Publicity ) It is characterized by 4) hardening of the skin similar to that of rheumatoid arthritis, and 5) endocrinological symptoms (diabetes, sexual dysfunction, azoospermia, infertility, etc.).

The skin on the extremities becomes shiny, hard, and cannot be lifted. Similar changes occur on the face, Point ( Toga ) From the swollen nose and protruding eyeballs, Facial features ( Hard work ) Also called corns. Localized hyperkeratosis (corns) develops on the soles and sides of the feet. The feet are prone to developing intractable ulcers. Hair loss and graying of the hair occurs early. Localized calcifications develop in the Achilles tendons and knees ( Knee ) , elbow ( Elbow ) , ankle joint Ligaments ( Constitution ) etc.

Testing and diagnosis

Epidermis, dermis atrophy ( Ishku ) There is fibrosis in the dermis collagen. Vitrification ( Poor ) Atrophy of the subcutaneous fat tissue and skin appendages is also evident.

Treatment methods

Skin ulcers tend to recur and are difficult to treat. sarcoma ( Meat ) Because the incidence of thyroid cancer and malignant melanoma is high, life prognosis will vary depending on the treatment for these conditions.

What to do if you notice an illness

I will visit a dermatologist and an internal medicine doctor.

Atsushi Utani

Source: Houken “Sixth Edition Family Medicine Encyclopedia” Information about the Sixth Edition Family Medicine Encyclopedia

Japanese:

どんな病気か

　早老症(そうろうしょう)の代表的疾患で、さまざまな生理的老化に似た症状を示します。

原因は何か

　DNA（デオキシリボ核酸）の複製、修復、組み換え、転写などに関わる酵素に遺伝子の異常があることが原因です。

症状の現れ方

　①特徴的体型（低身長、細い四肢、ビヤ樽のような体型など）、②早期老化の徴候（白髪、動脈硬化、しわがれ声、白内障(はくないしょう)など）、③強皮症(きょうひしょう)に似た皮膚の硬化、④内分泌学的症状（糖尿病、性機能不全、無精子症、不妊症など）が特徴です。

　四肢末梢部の皮膚は光沢があり、硬く、つまみ上げることができません。顔面でも同様の変化が起こり、尖(とが)った鼻、飛び出したように見える眼球から、鳥様顔貌(がんぼう)とも呼ばれます。限局性の角質増殖（いわゆる、うおのめ）が足の底や側縁部にできます。足は難治性潰瘍を生じやすくなります。脱毛、白毛が早期から現れます。限局性の石灰化が、アキレス腱、膝(ひざ)、肘(ひじ)、足関節の靭帯(じんたい)などにみられます。