What is LEOPARD syndrome. How does it affect the body. What are the main symptoms of LEOPARD syndrome. How is LEOPARD syndrome diagnosed and treated. What genetic factors contribute to LEOPARD syndrome. How does LEOPARD syndrome differ from Noonan syndrome. Where can patients 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 presents a unique set of challenges for those affected, impacting the skin, head, face, inner ear, heart, and in some cases, the genitals. Understanding this complex syndrome is crucial for proper diagnosis and management.

The LEOPARD Acronym: Decoding the Symptoms

The term “LEOPARD” was originally coined as an acronym to describe the main features of the syndrome:

• Lentigines: Numerous brown or black freckle-like skin markings
• Electrocardiograph conduction abnormalities: Heart electrical and pumping issues
• Ocular hypertelorism: Widely spaced eyes
• Pulmonary valve stenosis: Narrowed pulmonary heart valve
• Abnormalities of the genitals: Such as undescended testicles
• Retardation of growth: Delayed bone and overall growth
• Deafness: Varying degrees of hearing loss

While this acronym is no longer the preferred name for the condition, it provides a helpful mnemonic for remembering the key symptoms associated with NSML.

Genetic Underpinnings of LEOPARD Syndrome

LEOPARD syndrome 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 aspect plays a crucial role in understanding the inheritance pattern and potential risk factors for future generations.

The Role of Genetic Mutations

Research has identified specific gene mutations associated with LEOPARD syndrome. These mutations primarily affect genes involved in the RAS-MAPK signaling pathway, which is critical for cell growth and division. Understanding these genetic factors can aid in genetic counseling and potentially lead to targeted therapies in the future.

Diagnosing LEOPARD Syndrome: A Multifaceted Approach

Diagnosing LEOPARD syndrome requires a comprehensive evaluation by healthcare professionals. The process typically involves a combination of physical examinations, medical history reviews, and various diagnostic tests.

Key Diagnostic Tests

Healthcare providers may recommend the following tests to confirm a diagnosis of LEOPARD syndrome:

1. ECG and echocardiogram to assess heart function
2. Hearing tests to evaluate auditory capabilities
3. CT scan of the brain to check for any structural abnormalities
4. Skull x-rays to examine bone structure
5. EEG to assess brain function
6. Blood tests to check hormone levels
7. Skin biopsy to examine lentigines

These tests, combined with a thorough physical examination and consideration of the patient’s symptoms, help healthcare providers make an accurate diagnosis.

Treatment Strategies for LEOPARD Syndrome

While there is no cure for LEOPARD syndrome, various treatment options are available to manage symptoms and improve quality of life for affected individuals.

Symptom-Specific Treatments

Treatment approaches for LEOPARD syndrome are tailored to address specific symptoms:

• Hearing aids may be recommended for those with hearing loss
• Hormone therapy might be necessary during puberty to promote normal development
• Laser therapy, cryosurgery, or bleaching creams can help lighten lentigines
• Cardiac issues may require ongoing monitoring and potential surgical intervention
• Physical and occupational therapy can assist with growth and developmental delays

A multidisciplinary approach involving various medical specialists is often necessary to provide comprehensive care for individuals with LEOPARD syndrome.

LEOPARD Syndrome vs. Noonan Syndrome: Understanding the Distinction

LEOPARD syndrome shares many similarities with Noonan syndrome, leading to potential confusion in diagnosis. However, there is a key distinguishing factor between the two conditions.

The Lentigines Difference

The primary feature that sets LEOPARD syndrome apart from Noonan syndrome is the presence of lentigines. These distinctive skin markings are typically absent in individuals with Noonan syndrome. This difference in skin manifestation serves as a crucial diagnostic marker for healthcare providers.

Living with LEOPARD Syndrome: Challenges and Coping Strategies

Individuals with LEOPARD syndrome face various challenges in their daily lives, from managing physical symptoms to dealing with potential social and emotional impacts.

Navigating Physical Challenges

Physical challenges associated with LEOPARD syndrome may include:

• Cardiac issues requiring ongoing medical attention
• Hearing impairment affecting communication and learning
• Growth delays impacting physical development
• Skin manifestations potentially affecting self-esteem

Developing coping strategies and accessing appropriate medical care are essential for managing these physical challenges effectively.

Addressing Emotional and Social Aspects

The emotional and social impact of living with a rare genetic condition should not be underestimated. Individuals with LEOPARD syndrome may benefit from:

• Psychological support to address self-esteem and body image concerns
• Educational accommodations to support learning needs
• Social support networks to connect with others facing similar challenges
• Family counseling to help loved ones understand and support the affected individual

Building a strong support system and accessing appropriate resources can significantly improve the quality of life for those living with LEOPARD syndrome.

Research and Future Prospects for LEOPARD Syndrome

Ongoing research into LEOPARD syndrome holds promise for improved understanding and potential new treatment options. Scientists are exploring various avenues to enhance our knowledge of this rare condition.

Current Research Directions

Some areas of focus in LEOPARD syndrome research include:

• Genetic studies to identify additional mutations and their effects
• Investigation of potential targeted therapies based on genetic insights
• Development of improved diagnostic tools for early detection
• Exploration of novel treatments for specific symptoms, such as cardiac issues

As research progresses, it may lead to more personalized and effective treatment approaches for individuals with LEOPARD syndrome.

Support and Resources for LEOPARD Syndrome Patients and Families

For individuals and families affected by LEOPARD syndrome, accessing reliable information and support is crucial. Several organizations provide valuable resources and community connections.

Key Support Organizations

Some notable organizations offering support for LEOPARD syndrome include:

• National Organization for Rare Disorders (NORD): Provides comprehensive information and resources for rare diseases, including LEOPARD syndrome
• Noonan Syndrome Foundation: Offers support and information for individuals with Noonan syndrome and related conditions, including LEOPARD syndrome
• RASopathies Network: Focuses on supporting individuals and families affected by RAS pathway disorders, including LEOPARD syndrome

These organizations offer valuable resources such as educational materials, support groups, and connections to medical experts specializing in LEOPARD syndrome.

Leveraging Online Communities

In addition to formal organizations, online communities and social media groups can provide peer support and a platform for sharing experiences. These virtual networks allow individuals with LEOPARD syndrome and their families to connect with others facing similar challenges, exchange coping strategies, and stay informed about the latest developments in research and treatment.

The Importance of Awareness and Education in LEOPARD Syndrome

Raising awareness about LEOPARD syndrome is crucial for improving diagnosis rates, enhancing public understanding, and promoting research efforts. Education plays a vital role in this process, benefiting not only affected individuals and their families but also healthcare providers and the broader community.

Strategies for Increasing Awareness

Several approaches can be employed to boost awareness of LEOPARD syndrome:

• Educational campaigns targeting healthcare professionals to improve recognition and diagnosis
• Public awareness initiatives to increase understanding and reduce stigma
• Collaboration with rare disease organizations to amplify the voice of the LEOPARD syndrome community
• Engagement with media outlets to share stories and information about the condition

By increasing awareness, we can foster a more supportive environment for individuals with LEOPARD syndrome and drive advancements in research and treatment.

The Role of Genetic Counseling in LEOPARD Syndrome

Given the hereditary nature of LEOPARD syndrome, genetic counseling plays a crucial role in helping individuals and families understand the condition and make informed decisions about family planning.

Benefits of Genetic Counseling

Genetic counseling offers several advantages for those affected by or at risk of LEOPARD syndrome:

• Explanation of the genetic basis and inheritance patterns of the condition
• Assessment of individual and familial risk factors
• Discussion of available genetic testing options
• Guidance on family planning and reproductive choices
• Emotional support and resources for coping with a genetic diagnosis

By providing comprehensive information and support, genetic counselors empower individuals and families to make informed decisions about their health and future.

Advancements in Treatment and Management of LEOPARD Syndrome

As our understanding of LEOPARD syndrome grows, so do the options for treatment and management. Recent advancements have led to more targeted and effective approaches to addressing the various symptoms associated with the condition.

Emerging Treatment Modalities

Some of the latest developments in LEOPARD syndrome treatment include:

• Improved cardiac interventions for managing heart-related complications
• Advanced hearing aid technologies for addressing hearing loss
• Novel dermatological treatments for managing lentigines
• Tailored educational interventions to support cognitive development
• Potential targeted therapies based on genetic insights

These advancements offer hope for improved quality of life and better long-term outcomes for individuals with LEOPARD syndrome.

The Impact of LEOPARD Syndrome on Daily Life

Living with LEOPARD syndrome can present unique challenges that affect various aspects of daily life. Understanding these impacts is crucial for developing effective support strategies and improving overall quality of life for affected individuals.

Areas of Daily Life Affected

LEOPARD syndrome can influence several areas of daily functioning:

• Physical activities may be limited due to cardiac issues or developmental delays
• Social interactions might be affected by visible skin markings or hearing impairment
• Educational experiences may require special accommodations
• Emotional well-being can be impacted by the challenges of living with a rare condition
• Career choices and workplace accommodations may need consideration

Addressing these areas holistically can significantly improve the overall well-being of individuals with LEOPARD syndrome.

The Global Perspective: LEOPARD Syndrome Around the World

LEOPARD syndrome affects individuals across different cultures and geographical regions. Understanding the global perspective of this condition is essential for promoting international collaboration in research and support efforts.

International Research Initiatives

Several international research initiatives are underway to advance our understanding of LEOPARD syndrome:

• Collaborative genetic studies involving multiple countries
• Global patient registries to gather comprehensive data
• International clinical trials for potential new treatments
• Cross-cultural studies on the impact of LEOPARD syndrome

These global efforts contribute to a more comprehensive understanding of LEOPARD syndrome and pave the way for improved care worldwide.

Empowering Individuals with LEOPARD Syndrome

Empowerment plays a crucial role in helping individuals with LEOPARD syndrome lead fulfilling lives. By providing the right tools, resources, and support, we can enable affected individuals to overcome challenges and achieve their full potential.

Strategies for Empowerment

Several approaches can be employed to empower individuals with LEOPARD syndrome:

• Promoting self-advocacy skills to navigate healthcare and educational systems
• Encouraging participation in support groups and community activities
• Providing access to adaptive technologies and assistive devices
• Offering vocational training and career counseling
• Fostering independence in daily living activities

By focusing on empowerment, we can help individuals with LEOPARD syndrome build resilience and lead more independent and fulfilling lives.

The Future of LEOPARD Syndrome: Promising Horizons

As we look to the future, there is reason for optimism in the field of LEOPARD syndrome research and treatment. Ongoing scientific advancements and increasing awareness are paving the way for improved outcomes and quality of life for affected individuals.

Future Directions in LEOPARD Syndrome Care

Several promising areas of development are on the horizon:

• Potential gene therapies targeting the underlying genetic mutations
• Advancement in personalized medicine approaches
• Improved early detection and intervention strategies
• Development of more effective symptom management techniques
• Enhanced support systems and resources for affected individuals and families

These future directions offer hope for more effective treatments and better overall care for individuals with LEOPARD syndrome.

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.

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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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11. Kontaridis MI, Swanson KD, David FS, Barford D, Neel BG. PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. J Biol Chem. 2006 Mar 10. 281(10):6785-92. [QxMD MEDLINE Link].

12. Wang Y, Chen C, Wang DW. Leopard syndrome caused by heterozygous missense mutation of Tyr 279 Cys in the PTPN11 gene in a sporadic case of Chinese Han. Int J Cardiol. 2014 Jul 1. 174(3):e101-4. [QxMD MEDLINE Link].

13. Begic F, Tahirovic H, Kardaševic M, Kalev I, Muru K. Leopard syndrome: a report of five cases from one family in two generations. Eur J Pediatr. 2014 Jun. 173(6):819-22. [QxMD MEDLINE Link].

14. Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V, et al. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet. 2006 Feb. 78(2):279-90. [QxMD MEDLINE Link].

15. Ucar C, Calyskan U, Martini S, Heinritz W. Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). J Pediatr Hematol Oncol. 2006 Mar. 28(3):123-5. [QxMD MEDLINE Link].

16. Laux D, Kratz C, Sauerbrey A. Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome. J Pediatr Hematol Oncol. 2008 Aug. 30(8):602-4. [QxMD MEDLINE Link].

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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.