Noonan syndrome with multiple lentigines (NSML) is a rare inherited disorder VSports手机版. 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 (V体育安卓版)
NSML is inherited as an autosomal dominant trait. This means the person only needs an abnormal gene from one parent in order to inherit the disorder V体育ios版.
"VSports app下载" 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
- VSports在线直播 - 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 ("V体育官网入口" 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 V体育平台登录. However, the main symptom that tells apart the two conditions is that people with NSML have lentigines.
Exams and Tests (V体育官网)
Your health care provider will perform a physical exam and listen to the heart with a stethoscope. VSports注册入口.
Tests that may be done include:
- Electrocardiogram (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 (VSports app下载)
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 V体育官网入口.
Laser, cryosurgery (freezing), or bleaching creams may help lighten some of the brown spots on the skin.
VSports - 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/
- Rasopathies Network -- rasopathiesnet.org/
"VSports注册入口" Possible Complications
Complications vary and include:
- Deafness
- Delayed puberty
- Heart problems
- Infertility
V体育平台登录 - When to Contact a Medical Professional
Contact your provider if there are symptoms of this disorder.
Contact your provider for an appointment if you have a family history of this disorder and plan to have children.
VSports在线直播 - Prevention
Genetic counseling is recommended for people with a family history of NSLM who want to have children.
VSports最新版本 - Alternative Names
Multiple lentigines syndrome; LEOPARD syndrome; NSML
References (V体育2025版)
James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM V体育安卓版. 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 V体育ios版. Paller and Mancini – Hurwitz Clinical Pediatric Dermatology. 6th ed. Philadelphia, PA: Elsevier; 2022:chap 11.
V体育安卓版 - Review Date 5/31/2023
Updated by: Ramin Fathi, MD, FAAD, Director, Phoenix Surgical Dermatology Group, Phoenix, AZ VSports最新版本. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A. D. A. M. Editorial team.