A condition, known commonly as "black urine disease" or Alkaptonuria is a rare genetic disorder involving protein metabolism, and it has its root in the mutation of the homogentisate 1,2-dioxygenase gene, which in turn causes homogentisic acid accumulation in the body. The appearance of dark urine after exposure to air is due to this kind of accumulation; however, a variety of symptoms can be expected, such as joint stiffness, changes in pigmentation, and other long-term health complications. Although the prevalence has been estimated to be between 1 in 250,000 and 1 in 1 million people in the United States, its effects are indeed high on those affected.

Alkaptonuria is an autosomal recessive disease, meaning that the child must inherit a defective copy of the HGD gene from both parents. If both parents are carriers, their offspring have a 25% chance of inheriting two faulty genes and developing alkaptonuria. The condition is genetic but is often not diagnosed for years because it progresses slowly and its early symptoms appear to be harmless.

Symptoms of Alkaptonuria

The most characteristic and common initial symptom of alkaptonuria is dark urine. The reason for this is due to the fact that excess HGA is excreted in the urine and upon oxidation in the presence of air, it gives the urine a brown or black color. Though it is often considered cosmetic, the long-term accumulation of HGA within the connective tissues produces more complicated health problems.

Progressive joint pain and stiffness: The accumulation of HGA in cartilage leads to early-onset osteoarthritis, making movement increasingly difficult over time.

Skin and eye pigmentation changes: Affected individuals may develop bluish or grayish discoloration of the sclera (white part of the eye) and the skin, particularly in areas exposed to friction.

Cardiovascular and respiratory problems: With age, HGA accumulation can lead to valve calcifications in the heart and stiffening of connective tissues in the respiratory tract, which can cause problems in middle and old age.

Decreased mobility and spinal problems: The spine may become stiff and painful due to chronic cartilage degeneration.

These symptoms usually begin to manifest during adulthood, leading to severe complications in a person's 40s or 50s and significantly affecting the quality of their life.

How is Alkaptonuria Diagnosed?

Because of its rarity, alkaptonuria is often mistaken or overlooked early in life. However, there are several ways to confirm the condition:

Urine Testing: The gold standard in the diagnosis is the testing of urine samples for high levels of homogentisic acid via gas chromatography. In case of oxidation, which changes the color of urine to black, it is indicative of alkaptonuria.

Genetic Testing: Confirmatory genetic testing reveals mutations of the HGD gene to diagnose the condition conclusively.

Blood Tests: High levels of HGA in the blood can be used as further evidence.

Imaging Studies: X-rays and MRIs will expose cartilage and joint damage characteristic of alkaptonuria.

Management of Alkaptonuria: Is There A Cure?

At present, there is no cure for alkaptonuria; however, various treatment approaches can reduce its symptoms and slow the disease's progress:

Nitisinone Therapy: Nitisinone is a drug that inhibits the production of HGA. It has been shown to reduce HGA levels and slow tissue damage. However, it needs to be taken under close medical supervision because of potential side effects.

Low-Protein Diet: Since HGA is a byproduct of protein metabolism, reducing protein intake—especially foods rich in tyrosine and phenylalanine—may help decrease HGA production.

Pain Management: OTC pain relievers and anti-inflammatory medications can be used to relieve joint pain and stiffness.

Physical Therapy: Exercise regularly, as it may improve mobility and strengthen muscles, thus reducing strain on affected joints.

Surgical Interventions: Most people with alkaptonuria develop severe osteoarthritis necessitating joint replacement in their old age. Also, some may require heart valve replacement surgery if cardiovascular complications develop.

Life with Alkaptonuria

Although alkaptonuria is not fatal, it severely affects the quality of life. The progressive deterioration of the joints and associated symptoms can make everyday activities difficult, requiring lifestyle changes and medical interventions. The disease may cause premature aging of the joints, requiring walking aids and mobility assistance earlier than expected.

Ongoing research will continue to work on improving the treatment options by focusing on gene therapy and alternative enzyme replacement therapies. However, because of its rarity, the clinical trials and research remain sparse.

As genetic research advances, more hope for better management and possible curative approaches for alkaptonuria exists. Scientists are searching extensively for enzyme replacement therapies and innovative drugs that can target the root cause of the disorder. Being aware and being diagnosed early helps individuals better their condition and ultimately have better long-term health outcomes.

Alkaptonuria is a striking example of how one gene mutation can have widespread effects on the body. Though still a rare and often misunderstood condition, growing awareness and advances in treatment are paving the way for better care. If you or a loved one suspect symptoms of alkaptonuria, it is essential to seek early diagnosis and medical guidance to manage the disease effectively and preserve quality of life.

Doctors in India’s southern state of Tamil Nadu surgically removed a fully developed canine tooth from the upper eyelid region of a 16-year-old boy. They described the case as the first reported instance of an ectopic tooth in the upper part of the eye socket.

The case was reported by specialists at Aravind Eye Hospital in Madurai in the journal Ophthalmology.

What Did The Doctors Find?

The teenager visited the hospital with painless swelling of his left upper eyelid that had lasted a month. He had no history of injury to the area.

During the examination, doctors noticed two firm, whitish projections beneath the swollen area near the inner side of the upper eyelid, the experts shared in the paper.

A computed tomography (CT) scan revealed a dense structure resembling a tooth, with a crown and root, originating from the roof of the left eye socket. It extended towards the tissues in front of the orbital septum, a thin barrier separating the eyelid from the deeper eye socket, and protruded outwards with two tooth-like points on its surface.

The projections' appearance and texture raised the possibility that they were teeth. Dr. Meghana Tanwar, a medical consultant at Aravind Eye Hospital, told Live Science that they had a “fairly smooth surface and were hard on palpation.”

The doctors surgically removed the structure. Examination confirmed that it was a mature canine tooth without teratomatous elements, consistent with an ectopic tooth in the upper part of the eye socket.

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What Is An Ectopic Tooth?

An ectopic tooth develops or emerges in an abnormal location. Some remain within the mouth but appear outside their usual positions in the dental arch, while others develop outside the normal arrangement of teeth.

The latter is particularly unusual. In this teenager's case, the tooth was located in the upper orbital region rather than within the normal dental arch.

Before confirming the diagnosis, doctors considered whether the projections could be associated with a teratoma, a type of tumor that can contain different tissues, including bone and tooth tissue. They also considered whether a foreign object might be lodged in the eyelid.

Imaging and examination of the removed structure helped establish that it was a mature tooth rather than tissue associated with a teratoma.

Why Is This Case Unusual?

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Ectopic teeth have been documented in several locations, including the nasal cavity, chin and maxillary sinus, an air-filled cavity within the cheekbone. Previous reports have also described teeth in the lower part of the eye socket.

However, the doctors said they could not find an earlier report of an ectopic tooth in the superior orbit, the upper region of the eye socket.

“To the best of our knowledge this is the first and only ectopic tooth reported in the superior orbit,” Tanwar told Live Science.

“This was a first not just for us but the world over,” she said of the case. “We were very surprised by it.”

What Causes Ectopic Teeth?

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The doctors could not determine why the tooth developed in this unusual location.

Possible explanations for ectopic tooth development include abnormalities during development, genetic factors, infections and physical trauma. However, the cause in this case remains unknown.

Imaging did not reveal any additional ectopic teeth. Tanwar said the likelihood of the teenager developing another such tooth was low.

Beth Dobbin, who represented Great Britain at the Tokyo Olympics in 2021, now spends more than 22 hours a day in bed.

The 32-year-old retired from athletics in April 2026, describing her illness as “serious” and “life-changing.” She was later diagnosed with myalgic encephalomyelitis (ME), a chronic condition with no known cure or specific treatment.

Dobbin reached the 200m semi-finals at the Tokyo Olympics and won bronze in the 4x200m relay with Scotland at the 2022 Commonwealth Games in Birmingham.

“It's life-decimating like I can't even put into words,” she said. “I feel like I've lost everything.”

Beth Dobbin's Diagnosis with ME

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Dobbin’s health began deteriorating after back-to-back COVID-19 and glandular fever infections in the winter of 2021-22, the BBC

reported.

She experienced worsening fatigue, slower running times and soreness in the glands in her neck and armpits. Initial tests by British Athletics doctors failed to identify the cause.

Despite her symptoms, she continued training in 2022. At the European Championships, she false-started after losing all feeling in her legs while in the starting blocks.

Her condition subsequently worsened. She struggled to stand and spent most of her time in bed. After consulting four or five specialists, she was diagnosed with ME.

Dobbin has been confined to her house and bed since then. She gets out of bed only to eat and use the bathroom. Even conversations, bright lights or loud sounds can trigger a “crash” lasting days or, in severe cases, months. She has left the house just five times this year, the report said.

She now leaves home mainly for medical appointments and blood tests. Even conversations, bright lights and loud sounds can trigger a “crash” that lasts days or, in severe cases, months. She has left home just five times this year, according to the report.

What Is ME?

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ME, also known as chronic fatigue syndrome (CFS), is a complex, chronic illness that can cause severe fatigue, pain, sleep disturbances and problems with thinking and memory. Symptoms do not improve simply with rest, and there is no established cure.

Dobbin rejects the term “chronic fatigue syndrome” because she believes it understates the severity of the condition.

“I wish it was just fatigue, that would be a walk in the park,” she said. “It's so much more than that. If I thought of fatigue in my top 20 symptoms it might just make the cut.”

She described the illness as feeling as though her entire body “is shutting down; it feels like you are a few days from death”.

More than 400,000 people in the UK are thought to have ME, although some estimates put the number above one million. The illness varies in severity, with some people continuing to work or study while others require extensive care.

Dobbin’s illness has also taken an emotional toll on her family.

“I'm just so desperate to help her but I can't because there is nothing. I'd take her anywhere, I'd take her to America if I had to, but there's nothing,” her father, Jim, said.

Beth Dobbin Aims To Raise ME Awareness

Dobbin describes her future as “very bleak” but hopes that greater awareness will lead to better treatment options.

The emergence of long COVID, which shares some symptoms with ME, has brought renewed attention to the illness and increased research funding.

She also wants to highlight the experiences of patients who are dismissed or disbelieved.

“A lot of people that have this illness that I've spoken to have said to me 'I don't get believed, people think I'm lazy'. I've never experienced one person that doesn't believe me and that's because, why would an athlete just suddenly stop after 20 years?”

Infections accounted for an estimated 2.3 million new cancer cases worldwide in 2024, or about 12% of all cancers diagnosed that year, according to a September 2026 study published in The Lancet Oncology. Among these, Helicobacter pylori (H. pylori), a bacterium that infects the stomach, was associated with an estimated 760,000 cancer cases.

A 2025 study by the International Agency for Research on Cancer (IARC), part of the World Health Organization (WHO), estimated that 76% of the 15.6 million stomach cancer cases expected over the lifetimes of people born between 2008 and 2017 could be attributable to H. pylori infection if prevention efforts do not improve.

Although infections can contribute to cancer development, they are not the only cause. Genetics, age and non-infectious factors also play a role, Dr. Vivek Kaul, Professor of Medicine in the Gastroenterology & Hepatology Division at the University of Rochester Medical Center, told HealthandMe in an exclusive interview.

“I think, generally speaking, I think H. pylori is a well-known carcinogen, mostly responsible for the development of gastric cancer,” Kaul said.

Is Cancer Increasingly Linked To Infections?

The findings highlight the contribution of infectious agents to the global cancer burden. However, Kaul cautioned against concluding that cancer is increasingly being driven by infections.

“But I don't think it's fair to say that, you know, we are moving towards a more infectious etiology for cancer,” he said.

“Cancer is a multifactorial disease state that develops, most commonly develops from genetic and from non-infectious causes,” Kaul added.

He explained that cancer development also depends on the ability of cells to defend themselves against external threats and genetic mutations.

“In many cases, cancer development comes primarily from genetic and age-related issues and boils down to the individual cell's ability, you know, to fight external attacks, such as from H. pylori type of agents or from genetic mutations,” he said.

Kaul also noted that other infectious agents have been implicated in cancer development.

How Does H. pylori Raise Stomach Cancer Risk?

H. pylori is a bacterium that infects the stomach lining and can persist for years. The infection can cause chronic inflammation and damage to stomach tissue, increasing the risk of gastric cancer.

According to scientists at the International Agency for Research on Cancer (IARC), part of the World Health Organization (WHO), H. pylori infection is responsible for an estimated 76% of stomach cancer cases worldwide. The infection often causes no noticeable symptoms, although some people may experience digestive complaints.

The bacterium can spread through contaminated food or water and close contact with infected individuals. In some cases, the infection can cause stomach ulcers. Because many infected people have no symptoms, testing may be needed to identify it.

Can H. pylori Infection Be Prevented From Progressing To Cancer?

The World Gastroenterology Organisation's global guidelines state that eradicating H. pylori before precancerous changes develop can help prevent gastric cancer. This evidence supports test-and-treat screening programmes for young adults in countries with a high disease burden and sufficient resources.

Testing can involve blood, breath or stool tests, depending on the clinical context. People diagnosed with the infection can receive treatment to eradicate the bacterium. Follow-up testing can then confirm whether treatment has worked.

Nobel laureate and gastroenterologist Dr Barry Marshall has also highlighted the potential for early treatment to reduce cancer risk.

“H. pylori is much more than an ulcer organism. If the infection persists for many years, it can cause chronic inflammation in the stomach and increase the risk of gastric cancer. That gives us an opportunity because this is a potentially preventable cause of cancer,” Marshall told PTI.

He stressed the need for wider testing, appropriate treatment and follow-up to ensure the infection has been cleared.

Other Digestive Cancers Are Also A Growing Concern

Beyond infection-associated cancers, Kaul highlighted the rising incidence of several digestive cancers.

“We know that esophageal squamous cancer is another example where we will be close to a million cases by 2035,” he said, pointing to the burden in East Asia, sub-Saharan Africa and South America, including India.

Kaul also identified liver cancer as a growing concern and noted the rise in colorectal cancer among younger people in Western countries. The increase in colorectal cancer among younger adults in the US contributed to recommendations to begin average-risk screening at age 45 rather than 50.

These trends underline the need to address infectious causes of cancer alongside other risk factors, while improving access to prevention, early detection and appropriate care.