What is LEOPARD syndrome. How does it affect the body. Can LEOPARD syndrome be treated. What are the main symptoms of LEOPARD syndrome. How is LEOPARD syndrome diagnosed. What causes LEOPARD syndrome. Where can people find support for LEOPARD syndrome.

Unraveling the Mystery of LEOPARD Syndrome

LEOPARD syndrome, now more commonly known as Noonan syndrome with multiple lentigines (NSML), is a rare inherited disorder that affects various parts of the body. This condition is characterized by a unique set of symptoms that impact the skin, face, heart, and other organs. Understanding NSML is crucial for both medical professionals and those affected by the condition.

The Origin of the Name “LEOPARD Syndrome”

The term “LEOPARD” is an acronym that describes the main features of the syndrome:

• Lentigines – multiple freckle-like skin markings
• Electrocardiograph conduction abnormalities
• Ocular hypertelorism – widely spaced eyes
• Pulmonary valve stenosis
• Abnormalities of the genitals
• Retardation of growth
• Deafness

While the acronym is no longer preferred due to its potentially stigmatizing nature, it remains a useful mnemonic for understanding the key aspects of the condition.

Genetic Underpinnings of NSML

NSML is an autosomal dominant disorder, meaning that a person only needs to inherit one copy of the abnormal gene from either parent to develop the condition. This genetic trait distinguishes NSML from some other inherited disorders that require two copies of the affected gene.

The Role of Genetic Testing

Genetic testing plays a crucial role in diagnosing NSML. By identifying specific mutations associated with the syndrome, healthcare providers can confirm the diagnosis and offer appropriate genetic counseling to affected families. How is genetic testing performed for NSML? Typically, a blood sample is taken and analyzed for mutations in genes known to be associated with the condition, such as PTPN11, RAF1, and BRAF.

Recognizing the Symptoms of LEOPARD Syndrome

The symptoms of NSML can vary widely between individuals, but some key features are commonly observed:

1. Lentigines: These are dark, freckle-like spots that appear on the skin, particularly on the neck and upper chest.
2. Heart abnormalities: Issues with the heart’s electrical system and structure, including pulmonary valve stenosis.
3. Facial features: Widely spaced eyes (ocular hypertelorism) and other distinctive facial characteristics.
4. Growth delays: Slower than average growth and development.
5. Hearing loss: Ranging from mild to severe.
6. Genital abnormalities: Such as undescended testicles in males.

Distinguishing NSML from Noonan Syndrome

NSML shares many similarities with Noonan syndrome, another genetic disorder affecting multiple body systems. What sets NSML apart from Noonan syndrome? The primary distinguishing feature is the presence of lentigines in NSML, which are typically absent in classic Noonan syndrome.

Diagnostic Approaches for LEOPARD Syndrome

Diagnosing NSML involves a comprehensive approach that combines clinical evaluation, physical examination, and various diagnostic tests. Healthcare providers may employ the following methods:

• Physical examination: To assess characteristic facial features and skin markings
• Cardiac evaluation: ECG and echocardiogram to detect heart abnormalities
• Hearing tests: To identify any hearing loss
• Imaging studies: CT scans of the brain and skull X-rays may be performed
• EEG: To evaluate brain function
• Blood tests: To check hormone levels
• Skin biopsy: Examination of skin tissue to confirm lentigines

These diagnostic tools help healthcare providers piece together the complex puzzle of NSML and develop an appropriate management plan.

Treatment Strategies for LEOPARD Syndrome

While there is no cure for NSML, treatment focuses on managing symptoms and improving quality of life. The multifaceted nature of the syndrome requires a comprehensive approach to care:

Cardiac Care

Heart abnormalities are a significant concern in NSML. How are cardiac issues addressed in patients with LEOPARD syndrome? Treatment may include medications to manage heart rhythm problems, surgical interventions for structural defects, and regular monitoring to track cardiac health over time.

Growth and Development Support

Growth delays are common in NSML. Hormone therapy may be recommended at the onset of puberty to promote normal physical development. Additionally, early intervention with physical and occupational therapy can help address developmental delays.

Hearing Assistance

For individuals with hearing loss, hearing aids or other assistive devices may be necessary. Early detection and intervention are crucial for minimizing the impact on language development and social interactions.

Dermatological Interventions

While lentigines are not harmful, some individuals may seek treatment for cosmetic reasons. Options for managing skin markings include:

• Laser therapy
• Cryosurgery (freezing)
• Bleaching creams

These treatments can help lighten the appearance of lentigines, potentially improving self-esteem and body image for those affected.

Living with LEOPARD Syndrome: Challenges and Coping Strategies

NSML presents unique challenges for affected individuals and their families. Understanding these challenges and developing effective coping strategies is essential for maintaining a good quality of life.

Emotional and Psychological Impact

The visible symptoms of NSML, such as distinctive facial features and skin markings, can lead to self-esteem issues and social challenges. How can individuals with LEOPARD syndrome cope with these psychological effects? Counseling, support groups, and cognitive-behavioral therapy can be valuable resources for developing resilience and positive self-image.

Educational Considerations

Children with NSML may face learning difficulties due to developmental delays or hearing loss. Individualized education plans (IEPs) and appropriate accommodations in the classroom can help ensure academic success.

Long-term Health Management

Regular medical check-ups are crucial for monitoring the various aspects of NSML. This includes cardiac evaluations, hearing tests, and developmental assessments. A coordinated care approach involving multiple specialists can help manage the diverse symptoms of the syndrome effectively.

Research and Future Prospects for LEOPARD Syndrome

Ongoing research into NSML aims to deepen our understanding of the condition and develop more targeted treatments. Current areas of focus include:

• Genetic studies to identify additional genes associated with NSML
• Development of gene therapies to address the root cause of the syndrome
• Exploration of novel treatments for specific symptoms, such as cardiac abnormalities
• Investigation of potential interactions between NSML and other related disorders

As research progresses, there is hope for more personalized and effective treatments for individuals with NSML.

Support and Resources for LEOPARD Syndrome

For individuals and families affected by NSML, access to support and information is crucial. Several organizations provide valuable resources:

• National Organization for Rare Disorders (NORD): Offers comprehensive information on LEOPARD syndrome and connects patients with support services.
• Noonan Syndrome Foundation: Provides educational materials and support for individuals with Noonan syndrome and related disorders, including NSML.
• RASopathies Network: Focuses on a group of related genetic conditions, including NSML, offering resources and promoting research.

These organizations play a vital role in raising awareness, supporting research, and connecting affected individuals with the resources they need.

The Importance of Community

Building connections with others who understand the challenges of living with NSML can be incredibly beneficial. Support groups, both online and in-person, offer opportunities to share experiences, exchange coping strategies, and find emotional support.

LEOPARD syndrome, or Noonan syndrome with multiple lentigines, is a complex genetic disorder that affects multiple body systems. While it presents significant challenges, advances in medical understanding and treatment options continue to improve outcomes for affected individuals. By raising awareness, supporting research, and fostering a strong community, we can work towards better management and quality of life for those living with NSML.

LEOPARD syndrome Information | Mount Sinai

Multiple lentigines syndrome; LEOPARD syndrome; NSML

Noonan syndrome with multiple lentigines (NSML) is a very rare inherited disorder. People with this condition have problems with the skin, head and face, inner ear, and heart. The genitals may also be affected.

Noonan syndrome with multiple lentigines was formerly known as LEOPARD syndrome.

Causes

NSML is inherited as an autosomal dominant trait. This means the person only needs the abnormal gene from one parent in order to inherit the disease.

Symptoms

The former name of NSML of LEOPARD stands for the different problems (signs and symptoms) of this disorder:

• Lentigines — large number of brown or black freckle-like skin markings that mainly affect the neck and upper chest but can appear all over the body
• Electrocardiograph conduction abnormalities — problems with the electrical and pumping functions of the heart
• Ocular hypertelorism — eyes that are spaced wide apart
• Pulmonary valve stenosis — narrowing of the pulmonary heart valve, resulting in less blood flow to the lungs and causing shortness of breath
• Abnormalities of the genitals — such as undescended testicles
• Retardation of growth (delayed growth) — including bone growth problems of the chest and spine
• Deafness — hearing loss may vary between mild and severe

NSML is similar to Noonan syndrome. However, the main symptom that tells apart the two conditions is that people with NSML have lentigines.

Exams and Tests

The health care provider will perform a physical exam and listen to the heart with a stethoscope. 

Tests that may be done include:

• ECG and echocardiogram to check the heart
• Hearing test
• CT scan of the brain
• Skull x-ray
• EEG to check the brain’s function
• Blood tests to check certain hormone levels
• Removing a small amount of skin for examination (skin biopsy)

Treatment

Symptoms are treated as appropriate. A hearing aid may be needed. Hormone treatment may be necessary at the expected time of puberty to cause the normal changes to occur.

Laser, cryosurgery (freezing), or bleaching creams may help lighten some of the brown spots on the skin.

Support Groups

More information and support for people with LEOPARD syndrome and their families can be found at:

• National Organization for Rare Disorders – rarediseases.org/rare-diseases/leopard-syndrome
• Noonan Syndrome Foundation – www.teamnoonan.org/information
• Rasopathies Network – rasopathiesnet.org/

Possible Complications

Complications vary and include:

• Deafness
• Delayed puberty
• Heart problems
• Infertility

When to Contact a Medical Professional

Call your provider if there are symptoms of this disorder.

Call for an appointment with your provider if you have a family history of this disorder and plan to have children.

Prevention

Genetic counseling is recommended for people with a family history of NSLM who want to have children.

James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM. Melanocytic nevi and neoplasms. In: James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM, eds. Andrews’ Diseases of the Skin: Clinical Dermatology. 13th ed. Philadelphia, PA: Elsevier; 2020:chap 30.

Paller AS, Mancini AJ. Disorders of pigmentation. In: Paller AS, Mancini AJ, eds. Paller and Mancini – Hurwitz Clinical Pediatric Dermatology. 6th ed. Philadelphia, PA: Elsevier; 2022:chap 11.

Last reviewed on: 4/14/2021

Reviewed by: Elika Hoss, MD, Senior Associate Consultant, Mayo Clinic, Scottsdale, AZ. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

LEOPARD Syndrome: Background, Pathophysiology, Etiology

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Thrombosis, hangover and 5 more reasons why a marble pattern appears on the skin

• Health

The skin can become marble on the arms, legs, stomach. Livedo, angiitis or, more simply, marbling of the skin is familiar to many, for example, occurs in children when freezing. We understand when this condition is dangerous.

June 11, 2022

Source:

iStockphoto

Irregular coloration of the skin, resembling a pattern on marble, is called in medicine a fancy term – “livedo”. These are the features of the response of blood vessels in the area of ​​the skin and subcutaneous tissue, arising from disruptions in the functioning of the autonomic nervous system. As a result, some of the vessels are too dilated, there is too much blood inside them, while the neighboring ones are in spasm and are not filled with blood at all.

Outwardly, it looks like patches of pale and red color, cyanotic, purple, reddish-blue, intricately combined with each other. They can be subtle or very pronounced, appear only occasionally or are quite persistent. “Doctor Peter” talked about the reasons for this condition with Nikolai Zherdev, a cardiovascular surgeon at the ABIA clinic.

Not always vasospasm

Skin marbling, also known as livedo reticularis, is commonly thought to be caused by spasm of blood vessels close to the surface of the skin.

But to be more precise, such skin coloration occurs due to impaired blood flow in small and medium-sized vessels – capillaries, arterioles. Changes in skin coloration are formed in conditions of vasculopathy (vascular pathologies) due to:

• vasospasm,

• hypercoagulable conditions, thrombosis,

• increased blood viscosity

• or vascular embolism,

• and also in combination with existing vasculitis (inflammation of the vascular walls).

Due to disturbances in the normal blood flow within the vessels, the skin, usually on the legs, looks mottled with a purple tint, as if covered with a mesh pattern with clear boundaries.

See also

If it’s cold, spots appear

Often, marbling of the skin appears as a result of simple hypothermia, or vice versa, severe overheating. Surely, many of you have observed marbling of the skin after going to the bath or sauna, and also noticed how the color of the hands changes after a long stay in the cold without gloves or mittens.

In this case, the body reacts in this way to a sharp change in ambient temperature. No action is needed in this case, the marbling resolves spontaneously without any treatment.

Top Causes of Marbling in Health Problems

Occasionally, outright marbling can also indicate the presence of serious health problems, as well as the side effects of certain medications. Let’s highlight some of the most common causes of pathological marbling of the skin:

1. As a reaction to certain drugs such as catecholamines, amantadine or interferon.

2. Raynaud’s phenomenon or syndrome.

3. Antiphospholipid syndrome.

4. Infections, such as hepatitis C.

5. Paralysis due to stroke.

6. Venous thrombosis.

See also

Circulatory problems and marbling

Since these are circulatory disorders, one of the leading causes of such a spotted pattern is existing diseases, pathologies and conditions in which blood flow in the veins or arteries is disturbed . In the development of livedo, a decrease in the tone of the veins and stagnation of a small volume of blood in them plays a certain role. Especially often the blood stagnates in the legs and in the area of ​​the saphenous veins. Against the background of low ambient temperatures, an increasingly bright pattern appears on the skin.

More often complaints of spotting or marbling occur in people who suffer from heart failure, have episodes of increased pressure. Local changes in skin color are possible with prolonged standing on your feet, with sedentary work. A sharp change in the color of the limb with the appearance of marbling can give fat or air embolism, thrombosis.

Read also

Drank, smoked – turned pale

Against the background of smoking, marbling of the skin on the arms or legs often occurs as a result of the reaction of blood vessels to the effects of toxins – nicotine and combustion products, including carbon monoxide. Therefore, longtime smokers often have pale, marbled skin due to vascular problems.

The intake of alcohol, followed by the formation of its decomposition products, also has a negative effect on blood vessels. Against the background of taking strong drinks, the vessels first expand, but then they can sharply narrow. This gives the effect of marbling. Especially it can be expressed in the morning, against the background of a hangover syndrome.

See also

When should you see a doctor?

There are a number of situations in which you should not delay a visit to the doctor. These are:

• Marbling does not disappear after warming or normalizing the temperature around.

• Painful lumps and nodules are felt in the skin.

• Ulcers began to appear on the skin.

• In addition to the marbling of the skin, you have other complaints and symptoms.

• You already know that there are some problems with the vessels of the extremities.

• You are already seeing a rheumatologist for systemic lupus erythematosus or another systemic disease.

Text author: Alena Paretskaya

Leopard skin | WEBSITE OF THE HERBALIST EFREMOV A.P.

A.P. Efremov

Leopards, like many other cats with spotted coloration, look very impressive and attractive. In addition, the spotted coloration helps them to camouflage themselves well in the environment while hunting. But what is good for leopards is not always good for humans. So the spotty coloration of the skin not only does not decorate a person, but, on the contrary, causes a hostile feeling in many. The culprit of the “leopard skin” in humans is a microscopic yeast fungus Malassezia furfur (aka Pityrosporum orbiculare) , and the disease it provokes is called pityriasis versicolor or sun lichen.

This disease is ubiquitous, but more common in countries with hot and humid climates. They usually get sick at a young age. This fungus lives on the skin of almost all people, but only causes disease in some.

The risk of developing pityriasis versicolor increases in people suffering from excessive sweating, a certain chemical composition of sweat that is favorable for the causative agent pH of the skin, with concomitant diseases: endocrine disorders (diabetes mellitus), chronic diseases of the gastrointestinal tract, and immunodeficiency. In recent years, information has emerged about the genetic predisposition of some people to develop pityriasis versicolor. Often this disease develops against the background of pulmonary tuberculosis, lymphogranulomatosis, since these diseases are often accompanied by excessive sweating.

This disease is not contagious and does not cause any discomfort, except for moral discomfort. However, it can form an inferiority complex in young people, especially girls, and generally affect their behavior and even fate. As a rule, people with such a skin defect are embarrassed to expose their body on the beach, which makes their vacation at sea inferior and does not bring pleasure. And where, if not on the beach, you can still demonstrate your young beautiful body.

One of the common causes of this disease in perfectly healthy people is sunburn of the skin, which leads to a sharp drop in its protective properties. “Lucky” and I was ill with this disease in my younger years. Before the end of military service in Georgia, I decided to get a demobilization tan and lay under the scorching southern sun for almost a whole day. The result was a severe skin burn, after which I turned into a young leopard.

Pityriasis versicolor begins, as a rule, with the appearance of a small, not very inflamed and pink spot that does not rise above the surface of the skin. Sometimes the color may be yellowish or coffee-colored. Gradually, the spot is overgrown with “brothers”, they merge into bizarre outlines, forming “geographical” patterns. Elements of pityriasis versicolor are located on the skin of the chest, upper back, neck, shoulders.

Spots look lighter against the background of tanned skin. Spots tend to merge to form large foci, but can exist in isolation. Inflammatory phenomena are absent, there is a slight pityriasis peeling.

Upon returning home, I had to go to a dermatovenerological dispensary, where I was prescribed an alcohol solution of salicylic acid with resorcinol. A long-term and unsuccessful struggle with lichen began. For a while, there was an improvement, and then the skin was again colored with leopard spots. Years later, when I already became well versed in medicinal plants, I finally found a radical and affordable remedy for pityriasis versicolor, thanks to which I quickly got rid of this disease. It turned out to be hellebore water, which is sold in any pharmacy. Hellebore water is a tincture of hellebore roots Lobel (Veratrum lobelianum).

The treatment is very simple: it is necessary for 10-15 days (3-5 procedures are enough) in the evening with a cotton swab moistened with hellebore water to lubricate the areas of skin affected by lichen.