What is Noonan Syndrome with Multiple Lentigines. How does NSML differ from Noonan syndrome. What are the main symptoms of LEOPARD syndrome. How is NSML diagnosed and treated. What genetic factors contribute to the development of this rare disorder. Where can patients and families find support for LEOPARD syndrome.

Understanding Noonan Syndrome with Multiple Lentigines (NSML)

Noonan Syndrome with Multiple Lentigines (NSML), formerly known as LEOPARD syndrome, is an exceptionally rare inherited disorder that affects various parts of the body. This condition is characterized by a distinctive set of symptoms that primarily impact the skin, head, face, inner ear, heart, and sometimes the genitals.

The acronym LEOPARD stands for the main features of this syndrome:

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

Is NSML the same as Noonan syndrome? While NSML shares similarities with Noonan syndrome, the presence of lentigines (skin markings) is the primary distinguishing factor between the two conditions.

Genetic Basis and Inheritance of NSML

NSML is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the abnormal gene from either parent to develop the condition. This inheritance pattern has significant implications for families affected by NSML.

Are there specific genes associated with NSML? Research has identified mutations in several genes, including PTPN11, RAF1, and BRAF, as potential causes of NSML. These genes play crucial roles in cell growth and division, which explains the wide-ranging effects of the syndrome on various body systems.

Clinical Manifestations of LEOPARD Syndrome

Skin Abnormalities

The most striking feature of NSML is the presence of lentigines, which are dark, freckle-like spots on the skin. These markings typically appear in childhood and increase in number as the person ages. They are most commonly found on the neck and upper chest but can occur all over the body.

How do lentigines differ from regular freckles? Unlike freckles, lentigines are not influenced by sun exposure and are present year-round. They are also generally larger and more numerous than typical freckles.

Cardiac Involvement

Heart problems are a significant concern in NSML. These can include:

• Electrocardiograph conduction abnormalities
• Pulmonary valve stenosis
• Hypertrophic cardiomyopathy

Why is cardiac monitoring crucial for NSML patients? Regular cardiac evaluations are essential because heart problems can develop or worsen over time, even if they’re not present at birth.

Facial and Skeletal Features

Individuals with NSML often have distinctive facial features, including:

• Widely spaced eyes (ocular hypertelorism)
• Low-set ears
• Broad or webbed neck

Skeletal abnormalities may also be present, such as pectus excavatum (sunken chest) or pectus carinatum (protruding chest).

Growth and Developmental Issues

NSML can affect a person’s growth and development in several ways:

• Short stature
• Delayed bone age
• Mild intellectual disability in some cases

How does NSML impact a child’s growth trajectory? Children with NSML may experience slower growth rates and delayed puberty compared to their peers.

Hearing Loss

Hearing impairment is a common feature of NSML, ranging from mild to severe. The type of hearing loss can be sensorineural, conductive, or mixed.

Diagnostic Approach to NSML

Diagnosing NSML involves a comprehensive evaluation that includes:

1. Physical examination
2. Family history assessment
3. Cardiac evaluations (ECG and echocardiogram)
4. Hearing tests
5. Imaging studies (CT scan of the brain, skull x-ray)
6. EEG to assess brain function
7. Blood tests for hormone levels
8. Skin biopsy

Why is early diagnosis important for NSML patients? Early identification allows for prompt management of potential complications and enables better long-term outcomes through targeted interventions.

Management Strategies for LEOPARD Syndrome

Treatment for NSML is primarily symptomatic and supportive, focusing on addressing specific issues as they arise. Key aspects of management include:

Cardiac Care

Regular cardiac monitoring and intervention when necessary are crucial. This may involve medication, catheter-based procedures, or surgery for severe cardiac abnormalities.

Hearing Support

Hearing aids or other assistive devices may be recommended for individuals with hearing impairment. Early intervention is essential to support language development and communication skills.

Growth and Endocrine Management

Hormone therapy may be necessary at the expected time of puberty to induce normal developmental changes. Growth hormone treatment might be considered in cases of significant short stature.

Dermatological Interventions

While lentigines are benign, some individuals may seek treatment for cosmetic reasons. Options include:

• Laser therapy
• Cryosurgery (freezing)
• Bleaching creams

Are these treatments permanent solutions for lentigines? It’s important to note that these interventions may provide temporary improvement, but lentigines can recur over time.

Living with NSML: Psychosocial Considerations

The impact of NSML extends beyond physical symptoms. Individuals with this condition may face various psychosocial challenges, including:

• Body image concerns
• Social stigma
• Educational difficulties
• Emotional and behavioral issues

How can families support the emotional well-being of individuals with NSML? Providing a supportive environment, encouraging open communication, and seeking professional counseling when needed can be beneficial.

Research and Future Directions

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

• Gene therapy approaches
• Novel pharmaceutical interventions
• Improved diagnostic techniques

What potential breakthroughs are on the horizon for NSML treatment? While it’s difficult to predict specific outcomes, advancements in genetic medicine hold promise for more personalized and effective therapies in the future.

Support Resources for NSML Patients and Families

Several organizations provide information, support, and resources for individuals affected by NSML and their families:

• National Organization for Rare Disorders (NORD)
• Noonan Syndrome Foundation
• RASopathies Network

These organizations offer valuable services such as:

• Educational materials
• Patient registries
• Support groups
• Research updates

How can connecting with these organizations benefit NSML patients and families? Engaging with support networks can provide emotional support, practical advice, and opportunities to participate in research studies that may advance understanding and treatment of the condition.

In conclusion, Noonan Syndrome with Multiple Lentigines is a complex disorder that requires a multidisciplinary approach to management. While challenges exist, ongoing research and support networks offer hope for improved outcomes and quality of life for individuals affected by this rare condition. As our understanding of NSML continues to evolve, so too will our ability to provide more targeted and effective care for those living with this unique 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.

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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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].

17. Kalidas K, Shaw AC, Crosby AH, Newbury-Ecob R, Greenhalgh L, Temple IK, et al. Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. J Hum Genet. 2005. 50(1):21-5. [QxMD MEDLINE Link].

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23. Jurko T, Jurko A Jr, Krsiakova J, Jurko A, Minarik M, Mestanik M. Importance of cardiovascular examination in patients with multiple lentigines: two cases of LEOPARD syndrome with hypertrophic cardiomyopathy. Acta Clin Belg. 2018 May 2. 1-4. [QxMD MEDLINE Link].

24. Bujaldon AR. LEOPARD syndrome: what are café noir spots?. Pediatr Dermatol. 2008 Jul-Aug. 25(4):444-8. [QxMD MEDLINE Link].

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

A.P. Efremov

Leopards, like many other spotted cats, 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 that 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 skin pH pathogen, 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 pink spot that is not very inflamed and 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. It is better to do this in spring or summer, when spots become more noticeable under the influence of sunlight.

Hellebore water was also effective in the treatment of seborrhea. The fact is that this disease is caused by the same type of yeast fungus. Previously, it was isolated as an independent species Malassezia ovalis (Pityrosporum ovale) .

Hellebore water is stored at room temperature in a dark place, out of the reach of children and lovers of alcohol, as Hellebore is very poisonous! Even a small amount taken orally can cause fatal poisoning!

When using hellebore water, precautions should be taken – do not allow the drug to get into the eyes, open wounds, mucous membranes of the nasal cavity and mouth. In case of contact, rinse thoroughly with running water.

Wash your hands thoroughly with soap and water after each treatment.

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

Uneven coloration of the skin, reminiscent of 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

Marbling of the skin, 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. Skin color changes are formed in conditions of vasculopathy (vascular pathologies) due to:

• vasospasm,

• hypercoagulable conditions, thrombosis,

• increased blood viscosity

• or embolism in vessels,

90 081

as well as 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 spotty with a purple tint, as if covered with a mesh pattern with clear boundaries.

See also

When 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. In this case, no action is needed, the marbling resolves spontaneously without any treatment.

Top Causes of Marbling in Health Problems

Sometimes, overt marbling can also indicate a serious health problem, as well as a side effect 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.

Read also

Circulatory problems and the appearance of marbling

Since these are circulatory disorders, one of the leading causes of the appearance of such a spotted pattern is existing diseases, pathologies and conditions in which blood flow in the veins or arteries is impaired . 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 frequent 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, long-term 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.