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.

In today’s digital age, screens have become almost inseparable from daily life—even for very young children. While technology offers convenience and learning opportunities, increasing clinical observations have raised concerns about a phenomenon often referred to as “virtual autism." In an interview with Health and Me, Dr Aarti Javeri Manek, Paediatric Neurologist at Sir HN Reliance Foundation Hospital, explained what virtual autism is and the impact of screen time on children's brain health.

What is “virtual autism”?

Virtual autism is not a formally recognised medical diagnosis but rather a descriptive term used for children—typically toddlers—who exhibit autism-like features in the context of excessive screen exposure, particularly during critical periods of brain development. These children may show reduced eye contact, delayed speech, poor social interaction, and limited responsiveness to their environment.

Also Read: Cancer Is The 10th Leading Cause Of Death In Indian Children: Study

However, it is crucial to distinguish this entity from clinical Autism Spectrum Disorder (ASD). ASD is a neurodevelopmental condition, often with a strong underlying genetic and biological basis, present in addition to exogenous influences. External stimulus exposure may not even be apparent. In contrast, children with virtual autism often demonstrate significant improvement when screen time is reduced and replaced with real-world, interactive experiences. This reversibility is a key differentiating factor.

Read more: Is My Child Shy Or Autistic? Psychiatrist Shares Tips To Help Parents Spot Early Signs

What early signs should parents watch for?

From a neurological perspective, early childhood is a period of rapid synaptic growth, heavily influenced by sensory and social input. When screens replace human interaction, this can impact language acquisition, attention, and social interaction.

Some red flags that may suggest screen-related developmental delays include:

1. Limited or absent eye contact
2. Reduced response to name
3. Delayed speech or loss of previously acquired words
4. Preference for screens over people
5. Decreased or limited gestures (not pointing, showing, or sharing interest)
6. Repetitive behaviours such as watching the same videos excessively or viewing the same rhyme persistently
7. Irritability or meltdowns when screens are removed

While these signs overlap with autism, the context is important. A history of prolonged, unsupervised screen exposure, often exceeding 3–4 hours per day in toddlers, should prompt consideration of environmental impact.

Read more: Can Cell Therapy Be The Future Of Autism Treatment?

Are toddlers at greater risk compared to older children?

Yes, significantly so. The first three years of life are critical for brain development, particularly for language, social bonding, and emotional regulation. During this period, the brain relies heavily on serve-and-return interactions—a child babbles, a caregiver responds; a child points, and a parent names the object. These exchanges build neural circuits essential for communication and cognition.

Screens, even educational ones, are inherently passive. They do not adapt in real time to a child’s cues in the same way a human does. Excessive exposure during this sensitive window can therefore displace meaningful interactions, leading to significant developmental delays.

Older children, while not immune, are generally more resilient, as they have already established foundational social and language skills. However, excessive screen time in this group may still contribute to attention difficulties, behavioural issues, and reduced social engagement.

What can parents do?

The encouraging aspect of virtual autism is its potential reversibility if it is identified early. Reducing screen exposure, especially in children under 2 years, and reintroducing interactive play, storytelling, and face-to-face communication may lead to noticeable improvements. Ultimately, screens are tools and not substitutes for relationships. In early childhood, it is these relationships that shape the developing brain most profoundly.

For some people, getting inked is more than a passion—it is a form of self-expression. And tattoos are nothing short of an addiction; it is not easy to stop at one. Despite being a painful procedure that requires a great deal of caution—using fresh needles and safe ink, for instance—several incidents come to light where getting a tattoo goes wrong in irreversible ways. In a recent case, a man developed a weeping, black ulcer of dead flesh on his neck months after getting a tattoo. In this case, doctors blamed this reaction on the colour of the tattoo ink—it may have triggered inflammation that caused the skin to blacken and die.

A reaction from the tattoo ink

A 20-year-old man had a red cross tattoo on the base of his neck. After three months, it faded away spontaneously and was replaced by scars and bumps on either side of the neck, accompanied by a necrotic ulcer. In this case, when the tissue blackens and dies, it results in a painful wound. The unnamed man was hospitalised five months after getting his first tattoo. Doctors examining the patient found that the lymph nodes, which help fight infections, were swollen and hard. Doctors also examined a large crusted ulcer, which had spread across the base of the neck and had seeped into deeper layers of skin.

Read more: Tattoos May Increase Cancer Risk, Study Suggests

Doctors also performed an MRI and found large lumps around the ulcer that measured up to 5 cm. There were two blood clots in the jugular vein as well. Two biopsies were taken of the necrotic ulcer, but they did not reveal what may have triggered the necrosis. The team was then concerned about the scan results and how fast the patient's condition was progressing. He was then rushed into surgery, where doctors removed the ulcer along with masses on the neck. His neck was then reconstructed using fat from the thighs. The patient was then diagnosed with necrotising granulomatous lymphadenitis.

What is necrotising granulomatous lymphadenitis?

Necrotising granulomatous lymphadenitis is an inflammatory condition wherein the lymph node tissues die and form clumps of immune cells known as granulomas. This can develop in response to an injury, and in this case, doctors said that the tattoo was to blame.

Doctors said that heavy metals like cadmium and mercury in organic tattoo ink can result in an immune response. From surgery to recovery, the patient's case is published in the journal JAMA Otolaryngology. Experts say that this is only the second known case of necrosis after a tattoo.

What are the riskiest spots for a tattoo?

Getting a tattoo can be painful, but for some people, the pain is worth it. However, according to experts, there are some spots that are not ideal for getting a tattoo. These are:

1. Eyes—can lead to partial or complete blindness
2. Genitals – heightened risk of contracting sexually transmitted diseases and infections
3. Spine – a tattoo on the spine is extremely painful, and if it goes wrong, there could be irreversible repercussions

As winter transitions into warmer summer months, many people notice a sudden worsening of dandruff. During colder months, dandruff often appears as dry, fine flakes due to scalp dryness. However, as temperatures rise and humidity increases, dandruff can become oily and sticky because of increased sweating and sebum production. This seasonal shift highlights that dandruff is not limited to a particular time of year; rather, changes in climate can disrupt scalp balance and trigger flare-ups. Dr. Anupriya Goel, MBBS, MD, DPD (UK) – Dermatology, answered this for us.

Why does dandruff recur?

Many people struggle to understand why dandruff keeps recurring. It is often treated as a temporary cosmetic concern, but in reality, dandruff is a chronic scalp condition that requires consistent care and appropriate treatment. The primary cause of dandruff is a yeast called Malassezia globosa, which naturally resides on the scalp. This microorganism feeds on sebum (the natural oils produced by the scalp). As it breaks down these oils, it releases by-products that can irritate the scalp, leading to inflammation, itching, and visible flaking.

Seasonal factors further aggravate this process. In winter, cold air, low humidity, indoor heating, and frequent hot showers can strip the scalp of its natural moisture and weaken the skin barrier, resulting in dryness and flaking. In contrast, summer brings increased sweat and oil production. The combination of humidity, sweat, and sebum creates an ideal environment for Malassezia to multiply, which can worsen dandruff symptoms.

Read here: Simple Secrets To Establishing The Right Winter Hair Care Routine

What are the external factors responsible for dandruff?

Environmental factors such as pollution can also settle on the scalp and contribute to irritation. In addition, daily habits like wearing helmets for long hours, tying up damp hair, or not cleansing the scalp regularly can further disrupt scalp health. The transition period between seasons is often the most challenging, as the scalp has limited time to adapt to changing environmental conditions.

Because dandruff is often mistaken for a temporary issue, many people rely on occasional treatments or home remedies. However, effective management typically requires regular scalp-focused care using clinically proven active ingredients.

Treating dandruff

One such ingredient commonly used in anti-dandruff formulations is Piroctone Olamine, an antifungal agent that helps control the growth of Malassezia on the scalp. By reducing fungal proliferation, it helps address the underlying cause of dandruff and can assist in decreasing flaking, itching, and scalp irritation. It also helps cleanse the scalp by removing excess oil and buildup while being relatively gentle on the hair and scalp.

Read more: 7 Ayurvedic Hair Health Tips You Should Try For Healthy Locks

For optimal results, individuals experiencing recurrent dandruff may benefit from incorporating an anti-dandruff shampoo containing Piroctone Olamine into their regular hair care routine. Consistent use is important for maintaining scalp balance. During periods of increased sweating, such as in hot and humid weather, washing frequency may be increased as needed. Maintaining hygiene practices such as regularly cleaning helmets, pillowcases, and hair accessories can also help minimise recurrence.

In addition to controlling dandruff, well-formulated shampoos containing Piroctone Olamine are often combined with conditioning and moisturising ingredients that help maintain hair softness and scalp comfort while supporting long-term scalp balance.