What is Laugier-Hunziker Syndrome?
Laugier-Hunziker syndrome (also known as Laugier-Gerbig-Hunziker syndrome, Laugier-Hunziker-Baran syndrome or idiopathic lenticular mucocutaneous pigmentation) is a hereditary condition that causes unique color changes or pigmentation in the mucosa (mucous membrane), nails, and specific parts of the skin like hands and feet.
This condition is actually harmless, but there have been a few cases where it has been connected with other health conditions such as increased pigmentation in the esophagus, actinic lichen planus (chronic inflammation on the skin due to exposure to ultraviolet light), hypocellular bone marrow (a condition where the bone marrow doesn’t produce enough blood cells), and thrombocytopenia (low platelet count in the blood).
Because Laugier-Hunziker syndrome can look very similar to other more serious conditions like Addison disease, Peutz-Jeghers syndrome (a disorder that can cause polyps in the digestive tract), Cronkhite-Canada syndrome (a rare condition that can cause polyps in the stomach and intestines), and lentiginosis profusa (a skin condition featuring widespread lentigines, which are small pigmented spots on the skin), doctors usually only diagnose this syndrome once they’ve ruled out these other possibilities.
What Causes Laugier-Hunziker Syndrome?
This condition, known as a syndrome, is believed to occur when there are changes to melanocytes (skin cells that produce the pigment responsible for color) in the outer layer of your skin. Dendritic melanocytes, a type of melanocyte with many branches, appear and react to a certain substance called L-3,4 dihydroxyphenylalanine. As a result, these cells can produce more melanin, the pigment that gives your skin, hair, and eyes their color. In other words, the production of color or pigmentation in the skin increases due to these changes in the skin cells.
Risk Factors and Frequency for Laugier-Hunziker Syndrome
Laugier-Hunziker syndrome is more often found in the Asian population, especially in China. Cases have also shown up in European countries like France and Italy. Women are more likely to have this syndrome than men. In families, it can be passed down through dominant or recessive traits. However, there are also many instances where it randomly shows up in individuals.
Signs and Symptoms of Laugier-Hunziker Syndrome
The severity of a certain disease varies between juvenile and adult cases, with adults often experiencing increased severity. Juveniles with the disease are generally reported between 10 and 22 years of age, whereas adult cases typically fall between age 43 and 55. The unique characteristics of the disease can be better understood by considering the specific sites affected:
- Mucosal involvement: Characterized by small, well-defined light brown to brown-black spots on oral and genital areas. In the mouth, these spots can be found on the inside of the lips, cheeks, the roof of the mouth, tongue, and back of the throat. Genital lesions appear on the penis in males and vulva in females. Isolated tongue pigmentation has also been reported.
- Acral or cutaneous involvement: This refers to skin symptoms, often appearing as sharp-edged light brown to black spots and patches, usually found on the last two-thirds of all digits of the hand and both sole of the feet. The spots may also extend to involve the edges of the digits.
- Nail involvement: Seen in about two-thirds of cases. There are four types of nail pigmentation, which can all appear in one patient:
- Single 1 to 2 mm longitudinal streaks
- Double 2 to 3 mm longitudinal streaks on the lateral parts
- Homogeneous pigmentation involving one half side of the nail
- Complete nail pigmentation
One notable feature of nail involvement is nail fold pigmentation, also known as pseudo-Hutchinson’s sign.
- Rare cases have reported unique pigmentation patterns: This includes instances of isolated tongue pigmentation, pigmentation of the conjunctiva (the membrane that covers the white part of the eye), pigmentation on the neck and trunk, and overall diffuse pigmentation. The more frequently observed symptoms, however, are oral and acral involvements.
Testing for Laugier-Hunziker Syndrome
Laugier-Hunziker syndrome is a health condition that often goes unnoticed because it doesn’t show strong signs or symptoms. Many people don’t even realize they have it until much later after it develops. Therefore, if your doctor suspects that you might have this syndrome, they may start by asking about any changes in your energy levels, weight, gut health, and medications you might be taking.
They may also conduct a complete physical examination follow by various tests, specifically to rule out other illnesses. This examination might involve collecting blood samples for certain hormone tests, like corticotrophin, adrenocorticotrophic hormone and serum cortisol levels. They might also check the balance of minerals or ‘electrolytes’ in your blood and how well your liver is functioning.
In addition, they may perform procedures such as an endoscopy or colonoscopy. These involve inserting a small camera into your body to look for any abnormalities in your digestive tract. An ultrasound, which uses sound waves to create images of the inside of your body, might also be used.
Your doctor might also suggest checks for thyroid function to see how well your thyroid gland is working, as well as a test for HIV, which is a virus that affects the immune system. They might also arrange barium studies, which involve you swallowing a substance called barium, followed by X-ray imaging to examine parts of your digestive system.
In some recent cases, this syndrome has been linked to cancer, hence in certain adults, the doctor might recommend additional cancer screening tests.
Treatment Options for Laugier-Hunziker Syndrome
Laugier-Hunziker syndrome, a condition that often results in spots or changes in skin color, is primarily treated for aesthetic or cosmetic reasons. In other words, the treatments are intended to improve the look of the skin but are not necessary for health reasons.
Various treatment options are available, including cryotherapy, which uses extreme cold to remove skin lesions. Also, several types of specialised medical lasers can be used for treatment, such as the Q-switched Nd:YAG laser, the Q-switched alexandrite laser, the erbium: YAG laser, the CO2 laser, and the diode laser. Each uses a specific type of light beam to treat skin concerns.
What else can Laugier-Hunziker Syndrome be?
The following are different conditions that a doctor considers when making a diagnosis, and the factors that help them distinguish between these conditions:
- Addison’s disease: This disease can be either primary or secondary, and it results from inadequate levels of a hormone called adrenocorticotrophic hormone. Symptoms often include an increase in skin pigmentation, especially in areas exposed to the sun and recent scars. Some cases have also included vitiligo. Usually, skin changes are noticed before other symptoms like fatigue, body aches, nausea, change in personality, and low blood pressure.
- Peutz-Jeghers syndrome: This is a hereditary condition that increases the risk of developing tumors and is characterized by intestinal polyps. The skin changes in Peutz-Jeghers syndrome include pigmentation that crosses the border of the lips, which is different from Laugier-Hunziker syndrome. This syndrome does not involve nail pigmentation.
- McCune-Albright syndrome: This disorder is characterized by café-au-lait spots on the skin, which are different from the pigmented spots found in Laugier-Hunziker syndrome. Other symptoms include deformities in the bone and early onset of puberty.
- Cronkhite-Canada syndrome: This sporadic disorder is characterized by polyps in the gastrointestinal tract, loss of smell, and distorted taste. The skin pigmentation seen in Cronkhite-Canada syndrome affects more the upper body (arms, legs) compared to Laugier-Hunziker syndrome.
- Lentiginosis profusa and Leopard syndrome: These are hereditary conditions characterized by multiple small, pigmented spots, abnormally wide-set eyes, hearing loss, and heart problems.
- Carney syndrome: This hereditary condition is characterized by pigmented spots, hormonal problems, and an increased risk of developing tumors.
- Bandler syndrome: This condition also involves skin changes similar to Laugier-Hunziker syndrome, but it also involves intestinal vascular malformations.
- Acquired immunodeficiency syndrome (AIDS): In advanced stages, individuals may develop widespread pigmentation.
- Other disorders: These include diseases like lichen planus, smoker’s melanosis, and benign racial pigmentation, as well as conditions like nail stripe pigmentation, darkening of the skin after inflammation, nutritional deficiencies (like vitamin B12 and folate), and heavy metal poisoning.
- Drug-induced pigmentation: Certain drugs like minocycline, phenothiazine, antimalarials, zidovudine, amiodarone, oral contraceptives, and chemotherapy drugs can cause general increased pigmentation.
- Pseudo-Hutchinson sign related disorders: These include Peutz-Jeghers syndrome, subungual hematoma, Bowen disease, and AIDS, while the true Hutchinson sign is specific to melanoma.
What to expect with Laugier-Hunziker Syndrome
The skin discoloration seen in Laugier-Hunziker syndrome typically doesn’t respond well to treatment, and it often comes back. It’s worth noting that avoiding sunlight after successful treatment has shown to lower the chances of the condition returning.
